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 OR10S1 219873 broad.mit.edu 37 11 123848231 123848231 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:123848231G>A ENST00000531945.1 - 1 257 c.168C>T c.(166-168)ctC>ctT p.L56L NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GGAGGATGAGGAGATTCCCAG 0.527000 6 8 0 0 1 0 0 CD1B 910 broad.mit.edu 37 1 158299826 158299826 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:158299826G>A ENST00000368168.3 - 3 530 c.423C>T c.(421-423)ttC>ttT p.F141F NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 141 antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding p.F141F(1) breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) TGACACTCAGGAAATCCAATC 0.483000 52 83 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220315923 220315923 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:220315923C>T ENST00000312358.7 + 5 2311 c.2179C>T c.(2179-2181)Ccc>Tcc p.P727S SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Missense_Mutation_p.P623S NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 727 Ig-like 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GTTTGAGATCCCCCTGCAGAA 0.602000 33 57 0 0 1 0 0 TRPM7 54822 broad.mit.edu 37 15 50926685 50926685 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:50926685G>A ENST00000313478.7 - 8 1182 c.901C>T c.(901-903)Ctt>Ttt p.L301F TRPM7_ENST00000560955.1_Missense_Mutation_p.L301F NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 301 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) AGGTATTCAAGAACTGTGAGG 0.428000 6 25 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16232340 16232340 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:16232340C>T ENST00000399408.2 + 31 4617 c.4442C>T c.(4441-4443)aCc>aTc p.T1481I ABCC1_ENST00000346370.5_Missense_Mutation_p.T1415I|ABCC1_ENST00000351154.5_Missense_Mutation_p.T1412I|ABCC1_ENST00000349029.5_Missense_Mutation_p.T1356I|ABCC1_ENST00000399410.3_Missense_Mutation_p.T1471I|ABCC1_ENST00000345148.5_Intron P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 1471 ABC transporter 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) ATCCAGTCCACCATCCGGACA 0.612000 11 11 0 0 1 0 0 ZNF585A 199704 broad.mit.edu 37 19 37643951 37643951 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:37643951G>A ENST00000356958.4 - 5 1108 c.850C>T c.(850-852)Cat>Tat p.H284Y ZNF585A_ENST00000355533.2_Missense_Mutation_p.H229Y|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.H229Y|ZNF585A_ENST00000392157.2_Missense_Mutation_p.H229Y Q6P3V2 Z585A_HUMAN zinc finger protein 585A 284 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GCAATCAAATGGGTCTTCTGG 0.423000 113 73 0 0 1 0 0 PICALM 8301 broad.mit.edu 37 11 85711762 85711762 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:85711762G>A ENST00000526033.1 - 11 1394 c.1078C>T c.(1078-1080)Cct>Tct p.P360S PICALM_ENST00000532317.1_Missense_Mutation_p.P360S|PICALM_ENST00000528398.1_Missense_Mutation_p.P309S|PICALM_ENST00000393346.3_Missense_Mutation_p.P360S|PICALM_ENST00000356360.5_Missense_Mutation_p.P360S NM_001206946.1|NM_007166.3 NP_001193875.1|NP_009097.2 Q13492 PICAL_HUMAN phosphatidylinositol binding clathrin assembly protein 360 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) GTGGATACAGGAGAGGCTGCA 0.438000 T """MLLT10, MLL""" """TALL, AML, """ 24 29 0 0 1 0 0 OR5P3 120066 broad.mit.edu 37 11 7846635 7846635 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:7846635C>T ENST00000328375.1 - 1 884 c.885G>A c.(883-885)aaG>aaA p.K295K RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCTTAATCTCCTTGTTCCTGA 0.393000 12 21 0 0 1 0 0 RDH8 50700 broad.mit.edu 37 19 10131441 10131441 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:10131441G>A ENST00000591589.1 + 4 748 c.559G>A c.(559-561)Gaa>Aaa p.E187K RDH8_ENST00000171214.1_Missense_Mutation_p.E167K Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 167 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) GGGATTCTTCGAAAGCCTCGC 0.582000 11 15 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201191880 201191880 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:201191880C>T ENST00000335211.4 + 20 10345 c.10215C>T c.(10213-10215)ttC>ttT p.F3405F IGFN1_ENST00000295591.8_Silent_p.F565F|RP11-567E21.3_ENST00000453155.1_RNA NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GTCCCAAGTTCCTCGTGGACT 0.602000 OREG0014073 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 20 0 0 1 0 0 AQR 9716 broad.mit.edu 37 15 35261781 35261781 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:35261781C>T ENST00000156471.5 - 1 259 c.34G>A c.(34-36)Gcc>Acc p.A12T NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 12 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) ACCGTAGGGGCCACGATCTTC 0.632000 OREG0023038 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 10 0 0 1 0 0 IGLV3-27 28791 broad.mit.edu 37 22 23011165 23011165 + RNA SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr22:23011165C>T ENST00000390304.2 + 0 266 CCTCAGGGATCCCTGAGCGAT 0.562000 10 19 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16875888 16875888 + Missense_Mutation SNP T T G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:16875888T>G ENST00000524140.2 + 10 2713 c.2295T>G c.(2293-2295)atT>atG p.I765M NWD1_ENST00000379808.3_Missense_Mutation_p.I765M|NWD1_ENST00000339803.6_Missense_Mutation_p.I630M|NWD1_ENST00000552788.1_Missense_Mutation_p.I765M|NWD1_ENST00000549814.1_Missense_Mutation_p.I765M|NWD1_ENST00000523826.1_Missense_Mutation_p.I559M NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 765 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CTGGGGGCATTGAAGACCTGC 0.622000 29 45 0 0 1 0 0 SETD7 80854 broad.mit.edu 37 4 140432999 140432999 + Splice_Site SNP T T C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:140432999T>C ENST00000274031.3 - 8 1557 c.e8-2 SETD7_ENST00000506866.2_Intron NM_030648.2 NP_085151.1 Q8WTS6 SETD7_HUMAN SET domain containing (lysine methyltransferase) 7 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus histone-lysine N-methyltransferase activity|p53 binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 8 all_hematologic(180;0.156) TGGACAAACCTAAACATCAAG 0.567000 20 24 0 0 1 0 0 HMGCR 3156 broad.mit.edu 37 5 74646089 74646089 + Missense_Mutation SNP C C G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:74646089C>G ENST00000287936.4 + 8 826 c.670C>G c.(670-672)Cgg>Ggg p.R224G HMGCR_ENST00000343975.5_Missense_Mutation_p.R224G|HMGCR_ENST00000511206.1_Missense_Mutation_p.R224G NM_000859.2 NP_000850.1 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-CoA reductase 224 cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 20 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) GTAGCTTTCTCGGGAAAGCCG 0.418000 7 12 0 0 1 0 0 INTS8 55656 broad.mit.edu 37 8 95869014 95869014 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:95869014C>T ENST00000523731.1 + 15 1895 c.1762C>T c.(1762-1764)Cat>Tat p.H588Y INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.H588Y NM_017864.2 NP_060334.2 Q75QN2 INT8_HUMAN integrator complex subunit 8 588 snRNA processing integrator complex protein binding breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 28 Breast(36;1.05e-06) GGACTTTTCCCATGCTAAACA 0.428000 42 91 0 0 1 0 0 RIN3 79890 broad.mit.edu 37 14 93154522 93154522 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:93154522G>A ENST00000216487.7 + 10 3042 c.2883G>A c.(2881-2883)cgG>cgA p.R961R RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 961 Ras-associating. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) TTGTCTACCGGCCCCTGGACG 0.731000 5 6 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19666685 19666685 + Nonsense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr21:19666685C>T ENST00000284885.3 - 21 2421 c.2388G>A c.(2386-2388)tgG>tgA p.W796* NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 796 Peptidase S1. 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 CAACCCAGGGCCAGGCCCCTT 0.527000 42 41 0 0 1 0 0 FSCB 84075 broad.mit.edu 37 14 44975202 44975202 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:44975202G>A ENST00000340446.4 - 1 1280 c.989C>T c.(988-990)cCt>cTt p.P330L NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 330 Pro-rich. cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) AATTTCAGCAGGAAACTCCAC 0.512000 14 27 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26949289 26949289 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:26949289C>T ENST00000539517.2 - 3 658 c.341G>A c.(340-342)gGa>gAa p.G114E NOVA1_ENST00000267422.7_5'UTR|NOVA1_ENST00000574031.1_Missense_Mutation_p.G114E|NOVA1_ENST00000465357.2_Missense_Mutation_p.G114E|NOVA1_ENST00000547619.1_Missense_Mutation_p.G114E|NOVA1_ENST00000344429.5_Missense_Mutation_p.G114E NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 117 KH 1. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) TGCAATGAATCCATGAACTGC 0.438000 22 33 0 0 1 0 0 LIX1 167410 broad.mit.edu 37 5 96443145 96443145 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:96443145G>A ENST00000274382.4 - 3 601 c.306C>T c.(304-306)tcC>tcT p.S102S CTD-2215E18.1_ENST00000509481.1_Intron NM_153234.4 NP_694966.3 Q8N485 LIX1_HUMAN Lix1 homolog (chicken) 102 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1) 10 all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.0733) CATTGAAGAGGGAGTTGATCA 0.517000 15 30 0 0 1 0 0 MASP2 10747 broad.mit.edu 37 1 11105495 11105495 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:11105495C>T ENST00000400897.3 - 4 529 c.514G>A c.(514-516)Gtc>Atc p.V172I MASP2_ENST00000400898.3_Missense_Mutation_p.V172I NM_006610.3 NP_006601.2 O00187 MASP2_HUMAN mannan-binding lectin serine peptidase 2 172 EGF-like; calcium-binding. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) CGGTGCAGGACGTAGCCTGCG 0.677000 3 21 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18793653 18793653 + Splice_Site SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:18793653C>T ENST00000440756.2 - 2 124 c.e2-1 PSD3_ENST00000520789.1_Splice_Site|PSD3_ENST00000327040.8_Splice_Site Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) ATGTCTCTGCCTGCAAAATAA 0.333000 31 41 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43912676 43912676 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:43912676C>T ENST00000562955.1 + 65 8952 c.8952C>T c.(8950-8952)caC>caT p.H2984H SZT2_ENST00000372442.1_Silent_p.H2142H NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 3041 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 ACCTGATGCACGTGCACTCGT 0.597000 8 8 0 0 1 0 0 GDF5 8200 broad.mit.edu 37 20 34025333 34025333 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:34025333C>T ENST00000374372.1 - 3 879 c.376G>A c.(376-378)Gga>Aga p.G126R GDF5_ENST00000374369.3_Missense_Mutation_p.G126R P43026 GDF5_HUMAN growth differentiation factor 5 126 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) GGAAGCTGTCCTTTTGGGGTC 0.647000 28 46 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913210 77913210 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:77913210G>A ENST00000321110.1 - 2 1003 c.708C>T c.(706-708)ttC>ttT p.F236F NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 236 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 ATTGCAGGGGGAAATCTGTAG 0.502000 3 2 0 0 1 0 0 FCRL1 115350 broad.mit.edu 37 1 157771884 157771884 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:157771884G>A ENST00000358292.3 - 5 758 c.707C>T c.(706-708)cCt>cTt p.P236L FCRL1_ENST00000368176.3_Missense_Mutation_p.P236L|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.P236L NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 236 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CAGGATCGGAGGAGAGCCTCT 0.607000 15 24 0 0 1 0 0 SMOC2 64094 broad.mit.edu 37 6 168999536 168999536 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:168999536G>A ENST00000354536.5 + 8 929 c.709G>A c.(709-711)Gaa>Aaa p.E237K SMOC2_ENST00000356284.2_Missense_Mutation_p.E226K NM_022138.2 NP_071421.1 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 226 Thyroglobulin type-1 2. signal transduction basement membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) TGCCCTGGAGGAAGCCAAGCA 0.607000 25 45 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41201724 41201724 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:41201724G>A ENST00000263413.3 - 3 500 c.236C>T c.(235-237)cCc>cTc p.P79L C6_ENST00000337836.5_Missense_Mutation_p.P79L NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 79 TSP type-1 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GCAGTTGATGGGGCATCTTTG 0.433000 18 21 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141622683 141622683 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:141622683G>A ENST00000442267.2 - 2 290 c.216C>T c.(214-216)tcC>tcT p.S72S NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 72 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) AGTAGACCAGGGAGTCTGGAG 0.498000 7 13 0 0 1 0 0 GP6 51206 broad.mit.edu 37 19 55526069 55526069 + Missense_Mutation SNP C C T rs150807394 by1000genomes TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:55526069C>T ENST00000310373.3 - 8 1271 c.1244G>A c.(1243-1245)gGa>gAa p.G415E CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000333884.2_3'UTR|GP6_ENST00000417454.1_3'UTR|CTC-550B14.7_ENST00000593060.1_RNA NM_001083899.1 NP_001077368.1 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) 33 enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) CAGATTCCTTCCATCCCAAAT 0.567000 32 22 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10100179 10100179 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:10100179C>T ENST00000264828.3 - 25 2097 c.2012G>A c.(2011-2013)gGa>gAa p.G671E NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 671 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GCCTGGAATTCCTGGGTTTCC 0.567000 13 25 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52321401 52321401 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:52321401G>A ENST00000356297.4 - 17 2883 c.2783C>T c.(2782-2784)cCc>cTc p.P928L PXDNL_ENST00000543296.1_Missense_Mutation_p.P928L NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 928 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CTTTCCGGAGGGAGGCCAAGG 0.647000 14 19 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146480582 146480582 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:146480582G>A ENST00000392299.2 + 3 1269 c.799G>A c.(799-801)Gag>Aag p.E267K GRM1_ENST00000355289.4_Missense_Mutation_p.E267K|GRM1_ENST00000492807.2_Missense_Mutation_p.E267K|GRM1_ENST00000361719.2_Missense_Mutation_p.E267K|GRM1_ENST00000507907.1_Missense_Mutation_p.E267K|GRM1_ENST00000282753.1_Missense_Mutation_p.E267K Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 267 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CAACGCTGGGGAGAAGAGCTT 0.547000 21 24 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140407044 140407044 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:140407044C>T ENST00000286349.3 + 3 1711 c.1520C>T c.(1519-1521)cCc>cTc p.P507L NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 507 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CTGCCCTCCCCCTACCCCGTG 0.572000 17 32 0 0 1 0 0 EMILIN2 84034 broad.mit.edu 37 18 2885091 2885091 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr18:2885091C>T ENST00000254528.3 + 3 546 c.387C>T c.(385-387)ctC>ctT p.L129L NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 129 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) TGAAGACCCTCCGCCCCACGC 0.512000 11 28 0 0 1 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140803045 140803045 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:140803045C>T ENST00000398587.2 + 1 2284 c.2251C>T c.(2251-2253)Ctg>Ttg p.L751L PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGGCTTTCCTGCAAACCTA 0.577000 24 42 0 0 1 0 0 MRPL39 54148 broad.mit.edu 37 21 26976125 26976125 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr21:26976125G>A ENST00000307301.7 - 3 444 c.403C>T c.(403-405)Cca>Tca p.P135S MRPL39_ENST00000352957.4_Missense_Mutation_p.P135S NM_080794.3 NP_542984.2 Q9NYK5 RM39_HUMAN mitochondrial ribosomal protein L39 135 mitochondrial ribosome nucleotide binding endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 10 ACTTCTCCTGGATCACAATCT 0.368000 10 13 0 0 1 0 0 OR51I2 390064 broad.mit.edu 37 11 5475183 5475183 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:5475183C>T ENST00000341449.2 + 1 546 c.465C>T c.(463-465)acC>acT p.T155T AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTTCATCACCCTTTTCCCTC 0.502000 20 37 0 0 1 0 0 SPPL2C 162540 broad.mit.edu 37 17 43922587 43922587 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:43922587G>A ENST00000329196.5 + 1 332 c.315G>A c.(313-315)acG>acA p.T105T MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 105 integral to membrane aspartic-type endopeptidase activity GCTTCCACACGAAAGGCTGGC 0.667000 12 16 0 0 1 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36226038 36226038 + Missense_Mutation SNP G G T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:36226038G>T ENST00000258840.6 - 7 1014 c.624C>A c.(622-624)agC>agA p.S208R RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S208R|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S208R|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S208R Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 208 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CAAGAAAATAGCTTGTGAGAT 0.378000 19 38 2.4624e-09 2.49696e-09 1 1 0 SORCS3 22986 broad.mit.edu 37 10 106970971 106970971 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:106970971G>A ENST00000369701.3 + 17 2565 c.2338G>A c.(2338-2340)Gac>Aac p.D780N SORCS3_ENST00000369699.4_Missense_Mutation_p.D66N NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 780 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CCCATCAAAGGACTGCAGCCT 0.463000 10 12 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41100957 41100957 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:41100957G>A ENST00000373198.3 - 8 1634 c.1399C>T c.(1399-1401)Ccc>Tcc p.P467S PTPRT_ENST00000373187.1_Missense_Mutation_p.P467S|PTPRT_ENST00000373193.3_Missense_Mutation_p.P467S|PTPRT_ENST00000373201.1_Missense_Mutation_p.P467S|PTPRT_ENST00000356100.2_Missense_Mutation_p.P467S|PTPRT_ENST00000373184.1_Missense_Mutation_p.P467S|PTPRT_ENST00000373190.1_Missense_Mutation_p.P467S NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 467 Fibronectin type-III 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CGGCCCTCGGGGTTAGACAGC 0.592000 17 20 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73065184 73065184 + RNA SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:73065184G>A ENST00000429829.1 - 0 7404 NR_001564.2 TGCAAAAAGGGTCTGAGAGTA 0.468000 38 17 0 0 1 0 0 IRAK2 3656 broad.mit.edu 37 3 10261383 10261383 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:10261383C>T ENST00000256458.4 + 8 1013 c.923C>T c.(922-924)cCc>cTc p.P308L NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 308 Protein kinase. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 GACCCCCTCCCCTGGCCCCAG 0.562000 6 11 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1257344 1257344 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:1257344C>T ENST00000348261.5 + 14 3225 c.2977C>T c.(2977-2979)Ctc>Ttc p.L993F CACNA1H_ENST00000565831.1_Missense_Mutation_p.L993F|CACNA1H_ENST00000358590.4_Missense_Mutation_p.L993F NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 993 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) CTGGGCCGCCCTCTACTTCGT 0.647000 5 10 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32259367 32259367 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:32259367G>A ENST00000360482.2 - 12 2644 c.2515C>T c.(2515-2517)Ccc>Tcc p.P839S SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.P332S|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P839S NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 839 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) GGTTCCGTGGGAGACAACTCC 0.582000 36 47 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57829072 57829072 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:57829072C>T ENST00000371030.2 + 5 4308 c.4308C>T c.(4306-4308)ccC>ccT p.P1436P NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1436 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) TGCCTCTACCCCCTGGCAAAG 0.527000 18 28 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55541048 55541048 + Missense_Mutation SNP C C A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:55541048C>A ENST00000220676.1 + 4 4754 c.4606C>A c.(4606-4608)Cca>Aca p.P1536T NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1536 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGCAACACCACCATCTTTAGA 0.313000 12 24 6.40141e-05 6.44041e-05 1 1 0 KIF13B 23303 broad.mit.edu 37 8 28928132 28928132 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:28928132C>T ENST00000524189.1 - 40 5408 c.5370G>A c.(5368-5370)cgG>cgA p.R1790R KIF13B_ENST00000404075.3_Silent_p.R309R NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 1790 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) GGGTGGCGCTCCGGCGGGCCT 0.731000 3 2 0 0 1 0 0 NCF1 653361 broad.mit.edu 37 7 74197917 74197917 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:74197917C>T ENST00000289473.4 + 7 694 c.624C>T c.(622-624)tcC>tcT p.S208S NCF1_ENST00000443956.3_3'UTR NM_000265.4 NP_000256.3 P14598 NCF1_HUMAN neutrophil cytosolic factor 1 208 SH3 1. cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation cytosol|NADPH oxidase complex|soluble fraction electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 TCCCAGCGTCCTTCCTCGAGC 0.637000 9 30 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47855922 47855922 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr21:47855922C>T ENST00000359568.5 + 39 8964 c.8857C>T c.(8857-8859)Cac>Tac p.H2953Y PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2953 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CAGCCGCCTCCACCTAGGTTC 0.632000 38 67 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30349287 30349287 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:30349287C>T ENST00000327564.7 + 1 1264 c.1203C>T c.(1201-1203)ccC>ccT p.P401P LRRC37B_ENST00000543378.2_Silent_p.P292P|LRRC37B_ENST00000584368.1_Silent_p.P386P|LRRC37B_ENST00000341671.7_Silent_p.P374P|LRRC37B_ENST00000394713.3_Silent_p.P374P Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 374 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) TTCAGCCTCCCGAGGAGGCGG 0.537000 27 59 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24226007 24226007 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:24226007G>A ENST00000303531.7 + 17 2044 c.1892G>A c.(1891-1893)cGa>cAa p.R631Q PRKCB_ENST00000321728.7_Intron NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 632 AGC-kinase C-terminal. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) AACTTCGACCGATTTTTCACC 0.423000 15 18 0 0 1 0 0 RGS8 85397 broad.mit.edu 37 1 182636032 182636032 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:182636032G>A ENST00000483095.2 - 4 360 c.103C>T c.(103-105)Cca>Tca p.P35S RGS8_ENST00000367556.1_Missense_Mutation_p.P35S|RGS8_ENST00000367557.4_Missense_Mutation_p.P35S|RGS8_ENST00000258302.4_Missense_Mutation_p.P53S|RGS8_ENST00000491420.2_5'UTR P57771 RGS8_HUMAN regulator of G-protein signaling 8 35 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 5 GGTTTGTCTGGAAGAATAGCT 0.502000 24 25 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40980743 40980743 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:40980743C>T ENST00000373198.3 - 10 1978 c.1743G>A c.(1741-1743)cgG>cgA p.R581R PTPRT_ENST00000373187.1_Silent_p.R581R|PTPRT_ENST00000373193.3_Silent_p.R581R|PTPRT_ENST00000373201.1_Silent_p.R581R|PTPRT_ENST00000356100.2_Silent_p.R581R|PTPRT_ENST00000373184.1_Silent_p.R581R|PTPRT_ENST00000373190.1_Silent_p.R581R NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 581 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGGTGGCAATCCGAGTGGTGA 0.478000 14 29 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73063725 73063725 + RNA SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:73063725G>A ENST00000429829.1 - 0 8863 NR_001564.2 AGGTGATGGGGTATGACCTTA 0.403000 5 4 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44869865 44869865 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:44869865G>A ENST00000372262.3 - 2 687 c.287C>T c.(286-288)gCc>gTc p.A96V CDH22_ENST00000537909.1_Missense_Mutation_p.A96V NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 96 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) GTACTTGATGGCCCCGTCACC 0.597000 4 7 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176762710 176762710 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:176762710C>T ENST00000367662.3 + 20 6199 c.5035C>T c.(5035-5037)Cca>Tca p.P1679S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1679 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.P1679A(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AGTGTGTTCCCCATTGTGTGT 0.458000 12 21 0 0 1 0 0 MOG 4340 broad.mit.edu 37 6 29627144 29627144 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:29627144G>A ENST00000376894.4 + 2 255 c.137G>A c.(136-138)gGg>gAg p.G46E MOG_ENST00000431798.2_Missense_Mutation_p.G46E|MOG_ENST00000376891.4_Missense_Mutation_p.G46E|MOG_ENST00000533330.2_Missense_Mutation_p.G46E|MOG_ENST00000376917.3_Missense_Mutation_p.G46E|MOG_ENST00000494692.1_Missense_Mutation_p.G46E|MOG_ENST00000490427.1_Intron|MOG_ENST00000376898.3_Missense_Mutation_p.G46E|MOG_ENST00000483013.1_Intron|MOG_ENST00000416766.2_Missense_Mutation_p.G46E|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396701.2_Missense_Mutation_p.G46E|MOG_ENST00000396704.3_Missense_Mutation_p.G46E|MOG_ENST00000376888.2_Intron|MOG_ENST00000376902.3_Missense_Mutation_p.G46E Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 46 Ig-like V-type. cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 GCTCTGGTCGGGGATGAAGTG 0.547000 45 94 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34773198 34773198 + Silent SNP C C T rs142551778 byFrequency TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:34773198C>T ENST00000338074.2 + 7 887 c.726C>T c.(724-726)ttC>ttT p.F242F EPB41L1_ENST00000373941.1_Silent_p.F242F|EPB41L1_ENST00000373946.3_Silent_p.F211F|EPB41L1_ENST00000373950.2_Silent_p.F145F|EPB41L1_ENST00000441639.1_Silent_p.F180F|EPB41L1_ENST00000202028.5_Silent_p.F180F NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 242 FERM. cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) AGCTCCGCTTCGCCCCTAACC 0.592000 8 15 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872583 51872583 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:51872583G>A ENST00000371497.5 + 2 3473 c.2586G>A c.(2584-2586)tcG>tcA p.S862S TSHZ2_ENST00000329613.6_Silent_p.S859S|TSHZ2_ENST00000603338.2_Silent_p.S859S|RP4-678D15.1_ENST00000606932.1_RNA NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 862 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AGTTTGCCTCGAGCCTCTTCC 0.483000 7 22 0 0 1 0 0 ZNF600 162966 broad.mit.edu 37 19 53269323 53269323 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:53269323G>A ENST00000338230.3 - 3 1953 c.1686C>T c.(1684-1686)acC>acT p.T562T NM_198457.2 NP_940859.2 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 562 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T562T(1) breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) TGTGACTGAAGGTCTTGCCAC 0.438000 106 90 0 0 1 0 0 BPIFB1 92747 broad.mit.edu 37 20 31887785 31887785 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:31887785C>T ENST00000253354.1 + 8 903 c.742C>T c.(742-744)Ctg>Ttg p.L248L BPIFB1_ENST00000464032.1_3'UTR NM_033197.2 NP_149974.2 Q8TDL5 LPLC1_HUMAN BPI fold containing family B, member 1 248 extracellular space lipid binding TCAGCTCTACCTGGGGGTGAG 0.537000 OREG0025869 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 18 0 0 1 0 0 MYLK3 91807 broad.mit.edu 37 16 46744583 46744583 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:46744583C>T ENST00000394809.4 - 11 2348 c.2233G>A c.(2233-2235)Gac>Aac p.D745N MYLK3_ENST00000562104.1_5'UTR|MYLK3_ENST00000536476.1_Missense_Mutation_p.D404N NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 745 Protein kinase. cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GAAACAAAGTCCTTGGCCTCC 0.507000 51 17 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90428729 90428729 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:90428729G>A ENST00000369393.3 - 42 6193 c.6078C>T c.(6076-6078)tcC>tcT p.S2026S MDN1_ENST00000428876.1_Silent_p.S2026S Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 2026 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AGCTCCCACGGGAAAGGACTG 0.512000 18 25 0 0 1 0 0 URB2 9816 broad.mit.edu 37 1 229794885 229794885 + Missense_Mutation SNP G G T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:229794885G>T ENST00000258243.2 + 10 4552 c.4416G>T c.(4414-4416)gaG>gaT p.E1472D NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1472 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 TGCTGCAGGAGGGCATTTACC 0.537000 43 76 1.97e-11 2.00292e-11 1 1 0 TLL1 7092 broad.mit.edu 37 4 166964455 166964455 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:166964455G>A ENST00000061240.2 + 12 2055 c.1408G>A c.(1408-1410)Gaa>Aaa p.E470K TLL1_ENST00000507499.1_Missense_Mutation_p.E470K NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 470 CUB 2. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) ACGTAAAAATGAAGGACAGAT 0.413000 33 23 0 0 1 0 0 RASEF 158158 broad.mit.edu 37 9 85640715 85640715 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:85640715C>T ENST00000376447.3 - 2 813 c.553G>A c.(553-555)Gaa>Aaa p.E185K NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 185 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 GCCAAATTTTCCATTTCTGTG 0.428000 41 13 0 0 1 0 0 OPLAH 26873 broad.mit.edu 37 8 145111546 145111546 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:145111546C>T ENST00000426825.1 - 13 1900 c.1819G>A c.(1819-1821)Gac>Aac p.D607N OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 607 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) GCCCCGAAGTCCCCCGCACGG 0.672000 12 29 0 0 1 0 0 SNTG2 54221 broad.mit.edu 37 2 1168853 1168853 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:1168853G>A ENST00000308624.5 + 8 704 c.575G>A c.(574-576)gGa>gAa p.G192E SNTG2_ENST00000407292.1_Intron|SNTG2_ENST00000467759.1_3'UTR NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 192 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CATCTGAACGGAAACTCCAGT 0.443000 37 73 0 0 1 0 0 ITSN1 6453 broad.mit.edu 37 21 35195852 35195852 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr21:35195852G>A ENST00000381318.3 + 25 3366 c.3078G>A c.(3076-3078)ggG>ggA p.G1026G ITSN1_ENST00000399349.1_Intron|ITSN1_ENST00000399367.3_Silent_p.G1021G|ITSN1_ENST00000399326.3_Intron|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000381291.4_Silent_p.G1026G|ITSN1_ENST00000381285.4_Silent_p.G1026G|ITSN1_ENST00000399352.1_Silent_p.G1021G|ITSN1_ENST00000437442.2_Silent_p.G1021G|ITSN1_ENST00000399355.2_Intron|ITSN1_ENST00000399353.1_Silent_p.G984G|AP000304.12_ENST00000429238.1_Intron NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 1026 SH3 3. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 TTCAGCAAGGGGATGTGATTT 0.448000 21 34 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152192141 152192141 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:152192141C>T ENST00000368801.2 - 3 2039 c.1964G>A c.(1963-1965)gGa>gAa p.G655E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 655 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCCAGATCCAGAGCCCTG 0.582000 61 151 0 0 1 0 0 SUCLG1 8802 broad.mit.edu 37 2 84658752 84658752 + Missense_Mutation SNP A A T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:84658752A>T ENST00000393868.2 - 7 915 c.705T>A c.(703-705)gaT>gaA p.D235E SUCLG1_ENST00000491123.1_5'UTR NM_003849.3 NP_003840.2 P53597 SUCA_HUMAN succinate-CoA ligase, alpha subunit 235 tricarboxylic acid cycle ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity kidney(4)|large_intestine(4)|lung(2) 10 Succinic acid(DB00139) AGTCAATAAAATCTGTTCCAT 0.363000 19 22 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44952563 44952563 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:44952563G>A ENST00000296125.4 + 12 1788 c.1720G>A c.(1720-1722)Gaa>Aaa p.E574K NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 574 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) GGAGTCTAAGGAAATCATGGC 0.468000 10 36 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207170584 207170584 + Missense_Mutation SNP A A T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:207170584A>T ENST00000374423.3 + 5 1718 c.1332A>T c.(1330-1332)aaA>aaT p.K444N NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 444 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AGAATAATAAATCTTATGTTT 0.333000 5 14 0 0 1 0 0 CAPN9 10753 broad.mit.edu 37 1 230895258 230895258 + Splice_Site SNP G G C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:230895258G>C ENST00000354537.1 + 3 366 c.283_splice c.e3-1 p.G95_splice CAPN9_ENST00000366666.2_Intron|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Splice_Site_p.G95_splice NM_016452.1 NP_057536.1 O14815 CAN9_HUMAN calpain 9 95 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) CATTTTGCAGGAGACTGCTGG 0.488000 18 31 0 0 1 0 0 MLXIPL 51085 broad.mit.edu 37 7 73020076 73020076 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:73020076C>T ENST00000313375.3 - 7 890 c.843G>A c.(841-843)atG>atA p.M281I MLXIPL_ENST00000434326.1_Missense_Mutation_p.M188I|MLXIPL_ENST00000395189.1_Missense_Mutation_p.M188I|MLXIPL_ENST00000414749.2_Missense_Mutation_p.M281I|MLXIPL_ENST00000354613.1_Missense_Mutation_p.M281I|MLXIPL_ENST00000429400.2_Missense_Mutation_p.M281I NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 281 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) CCGGCTGGATCATGTCAGCAT 0.667000 8 12 0 0 1 0 0 SOBP 55084 broad.mit.edu 37 6 107955796 107955796 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:107955796C>T ENST00000317357.5 + 6 2407 c.1748C>T c.(1747-1749)tCc>tTc p.S583F NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 583 metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) CACTCCCTGTCCCCCCGGGAC 0.731000 12 7 0 0 1 0 0 PRDX6 9588 broad.mit.edu 37 1 173456933 173456933 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:173456933C>T ENST00000340385.5 + 5 738 c.606C>T c.(604-606)ttC>ttT p.F202F PRDX6_ENST00000470017.1_3'UTR NM_004905.2 NP_004896.1 P30041 PRDX6_HUMAN peroxiredoxin 6 202 cell redox homeostasis|phospholipid catabolic process cytoplasmic membrane-bounded vesicle|cytosol|lysosome peroxiredoxin activity|phospholipase A2 activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 12 AAAAACTTTTCCCGAAAGGAG 0.468000 12 29 0 0 1 0 0 ARID4A 5926 broad.mit.edu 37 14 58768348 58768348 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:58768348G>A ENST00000355431.3 + 3 430 c.57G>A c.(55-57)aaG>aaA p.K19K ARID4A_ENST00000395168.3_Silent_p.K19K|ARID4A_ENST00000431317.2_Silent_p.K19K|ARID4A_ENST00000348476.3_Silent_p.K19K NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 19 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TCAGTGCCAAGTACCGAGGTG 0.428000 10 8 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142083993 142083993 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:142083993G>A ENST00000264951.4 - 29 3407 c.3290C>T c.(3289-3291)cCt>cTt p.P1097L XRN1_ENST00000392981.2_Missense_Mutation_p.P1097L NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 1097 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 ATCCCGATCAGGAATGACTCC 0.348000 12 26 0 0 1 0 0 ZNF43 7594 broad.mit.edu 37 19 21991463 21991463 + Missense_Mutation SNP C C A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:21991463C>A ENST00000594012.1 - 7 1872 c.1358G>T c.(1357-1359)tGt>tTt p.C453F ZNF43_ENST00000595461.1_Missense_Mutation_p.C453F|ZNF43_ENST00000354959.4_Missense_Mutation_p.C459F|ZNF43_ENST00000598381.1_Missense_Mutation_p.C453F NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) GGCTTTGCCACATACTTCACA 0.383000 29 39 1.32181e-22 1.35342e-22 1 1 0 TM9SF4 9777 broad.mit.edu 37 20 30746296 30746296 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:30746296C>T ENST00000217315.5 + 15 1837 c.1497C>T c.(1495-1497)atC>atT p.I499I TM9SF4_ENST00000398022.2_Silent_p.I516I Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 516 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCATGTTCATCGAGCTCTTCT 0.592000 24 30 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13870977 13870977 + Missense_Mutation SNP G G A rs149609746 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:13870977G>A ENST00000265104.4 - 24 3837 c.3733C>T c.(3733-3735)Cgt>Tgt p.R1245C CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1245 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTAATTGGACGATTTAGTTTC 0.393000 Kartagener syndrome 7 26 0 0 1 0 0 OR52E4 390081 broad.mit.edu 37 11 5906312 5906312 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:5906312C>T ENST00000316987.2 + 1 812 c.790C>T c.(790-792)Cgt>Tgt p.R264C NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TATGACACATCGTTTTGGCCA 0.428000 31 50 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44079944 44079944 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:44079944G>A ENST00000272286.2 + 6 991 c.901G>A c.(901-903)Gtc>Atc p.V301I NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 301 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CCAGCACATGGTCCAGTATTT 0.597000 23 39 0 0 1 0 0 GSDMA 284110 broad.mit.edu 37 17 38133214 38133214 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:38133214C>T ENST00000301659.4 + 12 1359 c.1241C>T c.(1240-1242)tCg>tTg p.S414L NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 414 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 GTGCAGAGATCGGGCCCCCAA 0.592000 23 30 0 0 1 0 0 RWDD1 51389 broad.mit.edu 37 6 116910104 116910104 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:116910104G>A ENST00000466444.2 + 4 586 c.370G>A c.(370-372)Gaa>Aaa p.E124K RWDD1_ENST00000392526.1_Missense_Mutation_p.E28K|RWDD1_ENST00000487832.2_Missense_Mutation_p.E28K NM_015952.2 NP_057036.2 Q9H446 RWDD1_HUMAN RWD domain containing 1 124 TRREEEKKQKE -> LEERRKNKR (in Ref. 1; AAD27733). protein binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1) 12 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161) Tagaagagaagaagaaaagaa 0.294000 5 13 0 0 1 0 0 ZFP14 57677 broad.mit.edu 37 19 36858788 36858788 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:36858788G>A ENST00000270001.7 - 2 122 c.7C>T c.(7-9)Cat>Tat p.H3Y ZFP14_ENST00000589280.1_Missense_Mutation_p.H3Y NM_020917.2 NP_065968.1 Q9HCL3 ZFP14_HUMAN ZFP14 zinc finger protein 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 26 Esophageal squamous(110;0.162) TAACTTACATGGGCCATGGTT 0.368000 11 14 0 0 1 0 0 EXT1 2131 broad.mit.edu 37 8 118832011 118832011 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:118832011G>A ENST00000378204.2 - 6 2246 c.1440C>T c.(1438-1440)ttC>ttT p.F480F NM_000127.2 NP_000118.2 Q16394 EXT1_HUMAN exostosin glycosyltransferase 1 480 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) TGACTGCAGTGAATTTGGAGG 0.522000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 27 105 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100552304 100552304 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:100552304C>T ENST00000319509.7 + 1 1055 c.1055C>T c.(1054-1056)cCc>cTc p.P352L mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 ACTTCTCCTCCCACCACCCCA 0.463000 17 301 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 29 57 0 0 1 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64595853 64595853 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:64595853G>A ENST00000536360.1 - 10 2142 c.1329C>T c.(1327-1329)tcC>tcT p.S443S Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 6 443 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) AAGCAGACCAGGAAAAAGGAT 0.433000 10 14 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142151402 142151402 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:142151402C>T ENST00000519811.1 + 4 672 c.602C>T c.(601-603)tCc>tTc p.S201F DENND3_ENST00000518347.1_Missense_Mutation_p.S201F|DENND3_ENST00000424248.1_Missense_Mutation_p.S121F|DENND3_ENST00000262585.2_Missense_Mutation_p.S121F A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 121 DENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TATTACAACTCCCTCAAGGAC 0.612000 25 104 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196695675 196695675 + Missense_Mutation SNP G G A rs143237092 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:196695675G>A ENST00000367429.4 + 13 2189 c.1949G>A c.(1948-1950)gGa>gAa p.G650E NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 650 Sushi 11. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 GAAGAATATGGACACAGTGAA 0.363000 22 25 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134650321 134650321 + Splice_Site SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:134650321C>T ENST00000368586.5 - 45 6636 c.6536_splice c.e45+1 p.R2179_splice TTC40_ENST00000263170.5_Splice_Site_p.R340_splice NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 340 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 GCGGCTTTACCTGTCCCCTGA 0.602000 35 45 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61986306 61986306 + Silent SNP C C T rs144379684 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr13:61986306C>T ENST00000409186.1 - 5 4031 c.1926G>A c.(1924-1926)aaG>aaA p.K642K PCDH20_ENST00000409204.4_Silent_p.K642K Q8N6Y1 PCD20_HUMAN protocadherin 20 615 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) AGCTGAAGTCCTTGTTGATAA 0.478000 59 11 0 0 1 0 0 LIN7A 8825 broad.mit.edu 37 12 81239603 81239603 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:81239603G>A ENST00000552864.1 - 4 591 c.389C>T c.(388-390)tCc>tTc p.S130F NM_004664.2 NP_004655.1 O14910 LIN7A_HUMAN lin-7 homolog A (C. elegans) 130 PDZ. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 ATAAATGGGGGAATTTTGCTC 0.493000 11 24 0 0 1 0 0 CSF2RB 1439 broad.mit.edu 37 22 37333850 37333850 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr22:37333850C>T ENST00000262825.5 + 14 2235 c.2018C>T c.(2017-2019)tCc>tTc p.S673F CSF2RB_ENST00000403662.3_Missense_Mutation_p.S667F|CSF2RB_ENST00000536485.1_Missense_Mutation_p.S614F|CSF2RB_ENST00000406230.1_Missense_Mutation_p.S673F NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 667 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) GGGAGTCCCTCCCTGGAGTCC 0.682000 5 4 0 0 1 0 0 GLYATL1 92292 broad.mit.edu 37 11 58723296 58723296 + Missense_Mutation SNP G G A rs144071638 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:58723296G>A ENST00000300079.5 + 7 848 c.798G>A c.(796-798)atG>atA p.M266I GLYATL1_ENST00000317391.4_Missense_Mutation_p.M235I|RP11-142C4.6_ENST00000533954.1_RNA NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 235 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) CCTACAGCATGGAAAAATACC 0.493000 15 21 0 0 1 0 0 GRIA4 2893 broad.mit.edu 37 11 105483088 105483088 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:105483088G>A ENST00000393127.2 + 3 620 c.174G>A c.(172-174)tcG>tcA p.S58S GRIA4_ENST00000282499.5_Silent_p.S58S|GRIA4_ENST00000393125.2_Silent_p.S58S|GRIA4_ENST00000525187.1_Silent_p.S58S|GRIA4_ENST00000428631.2_Silent_p.S58S|GRIA4_ENST00000527669.1_Silent_p.S58S|GRIA4_ENST00000530497.1_Silent_p.S58S NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 58 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) CCAATGCGTCGGAAGCTCCTT 0.393000 15 44 0 0 1 0 0 GP1BA 2811 broad.mit.edu 37 17 4837429 4837429 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:4837429G>A ENST00000329125.5 + 2 1605 c.1530G>A c.(1528-1530)ggG>ggA p.G510G NM_000173.5 NP_000164.5 E7ES66 E7ES66_HUMAN glycoprotein Ib (platelet), alpha polypeptide 510 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1) 20 TGCTCCAAGGGCATTTGGAGA 0.502000 26 40 0 0 1 0 0 NUAK2 81788 broad.mit.edu 37 1 205277762 205277762 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:205277762C>T ENST00000367157.3 - 3 577 c.451G>A c.(451-453)Gaa>Aaa p.E151K NM_030952.1 NP_112214.1 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 151 Protein kinase. actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) TGCCTAGCTTCGCGCTCACTG 0.562000 18 28 0 0 1 0 0 LRRC27 80313 broad.mit.edu 37 10 134161528 134161528 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:134161528G>A ENST00000392638.2 + 6 789 c.594G>A c.(592-594)ccG>ccA p.P198P LRRC27_ENST00000432555.2_Silent_p.P71P|LRRC27_ENST00000368610.3_Silent_p.P136P|LRRC27_ENST00000368612.1_Silent_p.P136P|LRRC27_ENST00000344079.5_Silent_p.P198P|LRRC27_ENST00000356571.4_3'UTR|LRRC27_ENST00000368613.4_Silent_p.P198P|LRRC27_ENST00000368614.3_Silent_p.P198P|LRRC27_ENST00000368615.3_Silent_p.P198P Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 198 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) GTGACCTCCCGAGCCCAGGAC 0.557000 41 51 0 0 1 0 0 CARD8 22900 broad.mit.edu 37 19 48734041 48734041 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:48734041G>A ENST00000391898.3 - 6 807 c.765C>T c.(763-765)tcC>tcT p.S255S CARD8_ENST00000520753.1_Silent_p.S255S|CARD8_ENST00000520153.1_Silent_p.S205S|CARD8_ENST00000359009.4_Silent_p.S150S|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000519940.1_Silent_p.S255S|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000447740.2_Silent_p.S205S|CARD8_ENST00000521613.1_Silent_p.S205S|CARD8_ENST00000520015.1_Silent_p.S255S NM_001184900.1 NP_001171829.1 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 150 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 15 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) TACCTTGGAGGGAGATGAAGT 0.627000 20 50 0 0 1 0 0 DPF3 8110 broad.mit.edu 37 14 73137924 73137924 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:73137924C>T ENST00000541685.1 - 9 1006 c.994G>A c.(994-996)Gat>Aat p.D332N DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Intron|DPF3_ENST00000546183.1_Missense_Mutation_p.D342N NM_012074.3 NP_036206.3 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 160 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1) 22 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) TCTTCCAAATCGTCCTCATCA 0.572000 11 14 0 0 1 0 0 MICALCL 84953 broad.mit.edu 37 11 12316171 12316171 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:12316171C>T ENST00000256186.2 + 3 1484 c.1193C>T c.(1192-1194)tCc>tTc p.S398F NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 398 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) TCACTTTTTTCCTCCCTCAGA 0.453000 40 65 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 94120310 94120310 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:94120310C>T ENST00000369303.4 - 3 925 c.741G>A c.(739-741)agG>agA p.R247R EPHA7_ENST00000369297.1_Silent_p.R247R NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 247 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TGCAGTGCATCCTGGGGGCGT 0.473000 15 24 0 0 1 0 0 UBE3D 90025 broad.mit.edu 37 6 83667033 83667033 + Nonsense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:83667033G>A ENST00000369747.3 - 9 1269 c.1147C>T c.(1147-1149)Cag>Tag p.Q383* NM_198920.1 NP_944602.1 Q7Z6J8 UB2CB_HUMAN ubiquitin protein ligase E3D 383 HECT-like. cytoplasm ligase activity TTGCTCACCTGAAAGGAATTC 0.463000 15 25 0 0 1 0 0 SLC22A9 114571 broad.mit.edu 37 11 63176257 63176257 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:63176257G>A ENST00000279178.3 + 9 1756 c.1507G>A c.(1507-1509)Gga>Aga p.G503R SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 503 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 GATCATCTATGGAGTCTTCCC 0.488000 13 32 0 0 1 0 0 IGHG2 3501 broad.mit.edu 37 14 106110061 106110061 + RNA SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:106110061G>A ENST00000390545.2 - 0 556 GTGCACGACGGTGAGGACGCT 0.562000 77 98 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176011635 176011635 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:176011635C>T ENST00000510636.1 + 19 2627 c.2353C>T c.(2353-2355)Ccc>Tcc p.P785S CDHR2_ENST00000261944.5_Missense_Mutation_p.P785S|CDHR2_ENST00000506348.1_Missense_Mutation_p.P785S NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 785 Cadherin 7. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 GAACCCAGACCCCCAGGGGGG 0.607000 14 51 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6681979 6681979 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:6681979C>T ENST00000245907.6 - 35 4415 c.4323G>A c.(4321-4323)agG>agA p.R1441R NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1441 Properdin-binding. complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TGAGGGTGTTCCTATCGGAGA 0.532000 63 68 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57597027 57597027 + Nonsense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:57597027G>A ENST00000243077.3 + 69 11241 c.10775G>A c.(10774-10776)tGg>tAg p.W3592* NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3592 LDL-receptor class A 27. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCGGGGCGCTGGAAATGCGAT 0.667000 3 13 0 0 1 0 0 AP5Z1 9907 broad.mit.edu 37 7 4830461 4830461 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:4830461C>T ENST00000348624.4 + 16 2190 c.2096C>T c.(2095-2097)aCc>aTc p.T699I AP5Z1_ENST00000490487.1_3'UTR NM_014855.2 NP_055670.1 O43299 K0415_HUMAN adaptor-related protein complex 5, zeta 1 subunit 699 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding CAGGTGGTCACCGTGCTGATG 0.642000 5 8 0 0 1 0 0 KRT71 112802 broad.mit.edu 37 12 52942524 52942524 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:52942524C>T ENST00000267119.5 - 4 843 c.774G>A c.(772-774)atG>atA p.M258I NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 258 Coil 1B.|Rod. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) TCTCCTGGTCCATGGATTCCA 0.522000 26 40 0 0 1 0 0 PTBP1 5725 broad.mit.edu 37 19 804073 804073 + Missense_Mutation SNP C C G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:804073C>G ENST00000356948.6 + 4 576 c.153C>G c.(151-153)agC>agG p.S51R PTBP1_ENST00000394601.4_Missense_Mutation_p.S51R|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000349038.4_Missense_Mutation_p.S51R NM_002819.4 NP_002810.1 P26599 PTBP1_HUMAN polypyrimidine tract binding protein 1 51 negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4) 19 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AAGGTGACAGCCGAAGTGCAG 0.587000 22 26 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23523409 23523409 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:23523409G>A ENST00000296682.3 + 9 1074 c.892G>A c.(892-894)Ggg>Agg p.G298R NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 298 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GATCACCAAGGGGAGAAACTG 0.438000 HNSCC(3;0.000094) 10 20 0 0 1 0 0 MAGEA11 4110 broad.mit.edu 37 X 148797546 148797546 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:148797546G>A ENST00000355220.5 + 5 502 c.400G>A c.(400-402)Ggc>Agc p.G134S MAGEA11_ENST00000333104.4_Missense_Mutation_p.G105S NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 134 cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) AGAAGACCTGGGCCTGGTGGG 0.567000 18 9 0 0 1 0 0 BAZ1B 9031 broad.mit.edu 37 7 72892164 72892164 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:72892164G>A ENST00000339594.4 - 7 1965 c.1627C>T c.(1627-1629)Cgg>Tgg p.R543W BAZ1B_ENST00000404251.1_Missense_Mutation_p.R543W NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 543 Lys-rich. ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) TATTCTTTCCGTTGTTCTTCA 0.388000 56 87 0 0 1 0 0 PACSIN1 29993 broad.mit.edu 37 6 34497610 34497610 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:34497610G>A ENST00000538621.1 + 6 1025 c.780G>A c.(778-780)gaG>gaA p.E260E PACSIN1_ENST00000244458.2_Silent_p.E260E|PACSIN1_ENST00000374043.2_Silent_p.E218E NM_001199583.1 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 260 endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 ACCTGGCTGAGAACAGCAGGT 0.587000 6 7 0 0 1 0 0 SEMA3A 10371 broad.mit.edu 37 7 83640353 83640353 + Missense_Mutation SNP A A C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:83640353A>C ENST00000265362.3 - 9 1294 c.980T>G c.(979-981)gTg>gGg p.V327G SEMA3A_ENST00000436949.1_Missense_Mutation_p.V327G NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 327 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 AGTCGTAAACACTCCATATAC 0.294000 4 25 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105356087 105356087 + Missense_Mutation SNP G G C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:105356087G>C ENST00000453495.1 + 13 4206 c.3978G>C c.(3976-3978)gaG>gaC p.E1326D CEP170B_ENST00000556508.1_Missense_Mutation_p.E1255D|CEP170B_ENST00000418279.1_Missense_Mutation_p.E1220D|CEP170B_ENST00000414716.3_Missense_Mutation_p.E1290D centrosomal protein 170B AGATTGCGGAGATTGCCAGGT 0.632000 14 36 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167000049 167000049 + Nonsense_Mutation SNP A A C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:167000049A>C ENST00000392766.2 - 19 2454 c.2114T>G c.(2113-2115)tTa>tGa p.L705* ZBBX_ENST00000392764.1_Nonsense_Mutation_p.L676*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.L705*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.L744*|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.L744* NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 705 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 CAGCACTTGTAATTCTTTTTC 0.333000 15 25 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63157006 63157006 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:63157006G>A ENST00000449996.3 + 6 474 c.402G>A c.(400-402)ggG>ggA p.G134G RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000443584.3_Silent_p.G134G|RGS9_ENST00000262406.9_Silent_p.G134G NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 134 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 AAAAGAAAGGGATTTTGGAAG 0.388000 30 28 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065041 9065041 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:9065041C>T ENST00000397910.4 - 3 22608 c.22405G>A c.(22405-22407)Gag>Aag p.E7469K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7471 Ser-rich.|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 TGAATTTTCTCCGTATCTGTG 0.483000 58 83 0 0 1 0 0 C6orf62 81688 broad.mit.edu 37 6 24718839 24718839 + Missense_Mutation SNP T T C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:24718839T>C ENST00000378119.4 - 1 2225 c.58A>G c.(58-60)Aga>Gga p.R20G C6orf62_ENST00000378102.3_Intron|C6orf62_ENST00000540769.1_Intron NM_030939.4 NP_112201.1 Q9GZU0 CF062_HUMAN chromosome 6 open reading frame 62 20 intracellular endometrium(2)|kidney(3)|large_intestine(2)|lung(3) 10 TTTTTCTTTCTAAGCTGAGCA 0.383000 17 31 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61831375 61831375 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:61831375C>T ENST00000280772.1 - 37 9455 c.9264G>A c.(9262-9264)gaG>gaA p.E3088E ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3088 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AAGTTTTTATCTCTTTCCCTC 0.423000 8 78 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124383294 124383294 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:124383294C>T ENST00000409039.3 + 55 9244 c.9219C>T c.(9217-9219)atC>atT p.I3073I NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3073 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AGCAGAAGATCGTGCTGGCGG 0.652000 6 4 0 0 1 0 0 LRRC32 2615 broad.mit.edu 37 11 76372417 76372417 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:76372417C>T ENST00000407242.2 - 3 462 c.220G>A c.(220-222)Gca>Aca p.A74T LRRC32_ENST00000404995.1_Missense_Mutation_p.A74T|LRRC32_ENST00000260061.5_Missense_Mutation_p.A74T|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 74 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 TGACGAAGTGCTGTGTAGAAG 0.617000 14 21 0 0 1 0 0 PIWIL2 55124 broad.mit.edu 37 8 22140610 22140610 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:22140610C>T ENST00000356766.6 + 5 637 c.489C>T c.(487-489)atC>atT p.I163I PIWIL2_ENST00000521356.1_Silent_p.I163I|PIWIL2_ENST00000454009.2_Silent_p.I163I NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 163 DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) CAGGTGGTATCAGCAGAGAAG 0.557000 7 14 0 0 1 0 0 RASSF9 9182 broad.mit.edu 37 12 86198822 86198822 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:86198822C>T ENST00000361228.3 - 2 1334 c.966G>A c.(964-966)ttG>ttA p.L322L NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 322 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity p.L322F(2) endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGCTTTTCTCCAAATCACACT 0.373000 47 86 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261715 39261715 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:39261715C>T ENST00000391415.1 + 1 132 c.75C>T c.(73-75)tgC>tgT p.C25C NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 25 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 AGACCTGCTGCCGCCCCAGCT 0.642000 17 18 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34961028 34961028 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:34961028C>T ENST00000329357.5 + 1 116 c.80C>T c.(79-81)tCc>tTc p.S27F NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 27 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 AAACCGCCTTCCAAGTACTTC 0.622000 9 15 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148855984 148855984 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:148855984C>T ENST00000367467.3 + 16 2517 c.2042C>T c.(2041-2043)cCg>cTg p.P681L NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 681 SAM 1. protein binding p.P681Q(1) breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) ATCAGGGACCCGGAACACAGA 0.488000 16 21 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108135721 108135721 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:108135721C>T ENST00000273353.3 - 30 4002 c.3946G>A c.(3946-3948)Gaa>Aaa p.E1316K NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1316 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TTGCTCTTTTCCCTGGAAAGT 0.418000 21 39 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153190772 153190772 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:153190772C>T ENST00000285900.5 + 16 3051 c.2708C>T c.(2707-2709)gCc>gTc p.A903V GRIA1_ENST00000340592.5_Missense_Mutation_p.A903V|GRIA1_ENST00000518783.1_Missense_Mutation_p.A913V|GRIA1_ENST00000518142.1_Missense_Mutation_p.A823V|GRIA1_ENST00000521843.2_Missense_Mutation_p.A834V|GRIA1_ENST00000448073.4_Missense_Mutation_p.A913V NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 903 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CCCTTGGGAGCCACGGGATTG 0.572000 11 13 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43433819 43433819 + RNA SNP T T G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:43433819T>G ENST00000446844.3 - 0 573 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) ACAGCCTCCGTGGCCTCCCTG 0.532000 119 71 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55152105 55152105 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:55152105C>T ENST00000414150.2 + 15 2973 c.2695C>T c.(2695-2697)Ccc>Tcc p.P899S MROH7_ENST00000409996.1_Missense_Mutation_p.P467S|MROH7_ENST00000395690.2_Missense_Mutation_p.P899S|MROH7_ENST00000339553.5_Missense_Mutation_p.P899S|MROH7_ENST00000454855.2_Missense_Mutation_p.P417S|MROH7_ENST00000421030.2_Missense_Mutation_p.P899S|MROH7_ENST00000545244.1_Missense_Mutation_p.P467S maestro heat-like repeat family member 7 ACAGCCCTCTCCCTTCGTACC 0.622000 13 19 0 0 1 0 0 NMUR1 10316 broad.mit.edu 37 2 232393194 232393194 + Nonsense_Mutation SNP G G A rs141278960 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:232393194G>A ENST00000305141.4 - 2 671 c.538C>T c.(538-540)Cga>Tga p.R180* NM_006056.4 NP_006047.3 Q9HB89 NMUR1_HUMAN neuromedin U receptor 1 180 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1) 24 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) CCAAGCACTCGGCGCACATGG 0.687000 16 7 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11648221 11648221 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:11648221C>T ENST00000262442.3 + 31 6287 c.6219C>T c.(6217-6219)tcC>tcT p.S2073S DNAH9_ENST00000454412.2_Silent_p.S2073S NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2073 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) TGATGCGCTCCTTGCGGGATT 0.612000 10 24 0 0 1 0 0 FAM49A 81553 broad.mit.edu 37 2 16769331 16769331 + Missense_Mutation SNP G G C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:16769331G>C ENST00000381323.3 - 3 277 c.57C>G c.(55-57)ttC>ttG p.F19L FAM49A_ENST00000355549.2_Missense_Mutation_p.F19L|FAM49A_ENST00000406434.1_Missense_Mutation_p.F19L NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 19 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) CAAAATCCAGGAAAAAGTGTG 0.318000 4 13 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152080416 152080416 + Silent SNP C C T rs71585886 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:152080416C>T ENST00000368804.1 - 2 5276 c.5277G>A c.(5275-5277)agG>agA p.R1759R NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1759 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGTTCTTCCCTTTCCGGAC 0.602000 24 43 0 0 1 0 0 CLEC17A 388512 broad.mit.edu 37 19 14705358 14705358 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:14705358G>A ENST00000547437.1 + 5 384 c.307G>A c.(307-309)Gca>Aca p.A103T CLEC17A_ENST00000417570.1_Missense_Mutation_p.A103T|CLEC17A_ENST00000397439.2_Missense_Mutation_p.A86T NM_207390.3 NP_997273.3 Q6ZS10 CL17A_HUMAN C-type lectin domain family 17, member A 103 cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity ACCTCCAAGGGCAGGTGAGTT 0.582000 11 9 0 0 1 0 0 MKRN3 7681 broad.mit.edu 37 15 23812054 23812054 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:23812054G>A ENST00000314520.3 + 1 1601 c.1125G>A c.(1123-1125)gaG>gaA p.E375E MKRN3_ENST00000564592.1_Silent_p.E135E|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000568252.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 375 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) TTCCCAGTGAGTTCTGGGTGG 0.517000 17 60 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166924575 166924575 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:166924575G>A ENST00000061240.2 + 6 1312 c.665G>A c.(664-666)gGa>gAa p.G222E TLL1_ENST00000513213.1_Missense_Mutation_p.G222E|TLL1_ENST00000507499.1_Missense_Mutation_p.G222E NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 222 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) CGAGGAAATGGACCTCAGGCA 0.448000 15 7 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41033256 41033256 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:41033256C>T ENST00000399564.4 - 23 2698 c.2248G>A c.(2248-2250)Gat>Aat p.D750N MROH2B_ENST00000506092.2_Missense_Mutation_p.D305N NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B ATTTGCAGATCCATGTCCTAA 0.428000 3 10 0 0 1 0 0 SULT1C3 442038 broad.mit.edu 37 2 108875273 108875273 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:108875273G>A ENST00000329106.2 + 5 610 c.610G>A c.(610-612)Gat>Aat p.D204N SULT1C3_ENST00000376700.1_Missense_Mutation_p.D204N NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 204 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 CTTCTACGAGGATATTAAAAA 0.453000 14 13 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138555970 138555970 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:138555970G>A ENST00000440172.1 - 13 4532 c.4484C>T c.(4483-4485)cCg>cTg p.P1495L KIAA1549_ENST00000242365.4_Missense_Mutation_p.P1445L|KIAA1549_ENST00000422774.1_Missense_Mutation_p.P1495L NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1495 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 GGGAGGTGCCGGGATCGGCTG 0.567000 O BRAF pilocytic astrocytoma 20 20 0 0 1 0 0 OR6N1 128372 broad.mit.edu 37 1 158736386 158736386 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:158736386G>A ENST00000335094.2 - 1 106 c.87C>T c.(85-87)ctC>ctT p.L29L NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) GAAGCAACAAGAGGAAGAGAT 0.502000 17 21 0 0 1 0 0 ADIPOQ 9370 broad.mit.edu 37 3 186570910 186570910 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:186570910G>A ENST00000412955.2 + 2 204 c.63G>A c.(61-63)acG>acA p.T21T ADIPOQ_ENST00000444204.2_Silent_p.T21T|ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Silent_p.T21T Q15848 ADIPO_HUMAN adiponectin, C1Q and collagen domain containing 21 brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2) 16 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) AGGAAACCACGACTCAAGGGC 0.627000 29 27 0 0 1 0 0 LCE1D 353134 broad.mit.edu 37 1 152770383 152770383 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:152770383C>T ENST00000326233.6 + 2 156 c.113C>T c.(112-114)tCc>tTc p.S38F NM_178352.2 NP_848129.1 Q5T752 LCE1D_HUMAN late cornified envelope 1D 38 Cys-rich. cellular response to calcium ion|keratinization cornified envelope|perinuclear region of cytoplasm large_intestine(1) 1 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGTCTCTTCCTGCTGCAGT 0.667000 45 7 0 0 1 0 0 LILRA2 11027 broad.mit.edu 37 19 55086453 55086453 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:55086453C>T ENST00000251377.3 + 5 741 c.608C>T c.(607-609)cCc>cTc p.P203L LILRA2_ENST00000391738.3_Missense_Mutation_p.P203L|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.P191L|LILRA2_ENST00000251376.3_Missense_Mutation_p.P203L leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) TCGAACTCTCCCTATGTGTGG 0.582000 32 92 0 0 1 0 0 ZNF157 7712 broad.mit.edu 37 X 47272283 47272283 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:47272283G>A ENST00000377073.3 + 4 897 c.811G>A c.(811-813)Gag>Aag p.E271K NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 271 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 TCACACAGGGGAGAAACCCTA 0.433000 7 12 0 0 1 0 0 SLC6A17 388662 broad.mit.edu 37 1 110740902 110740902 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:110740902C>T ENST00000331565.4 + 12 2505 c.2020C>T c.(2020-2022)Cgc>Tgc p.R674C NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 674 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) CGATGAGACCCGCTTCATCCT 0.607000 13 25 0 0 1 0 0 KRT81 3887 broad.mit.edu 37 12 52681465 52681465 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:52681465G>A ENST00000327741.5 - 6 1009 c.941C>T c.(940-942)aCc>aTc p.T314I KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron NM_002281.3 NP_002272.2 Q14533 KRT81_HUMAN keratin 81 314 Coil 2.|Rod. keratin filament protein binding|structural molecule activity breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1) 16 BRCA - Breast invasive adenocarcinoma(357;0.189) GCGGCGCAGGGTCTCCCCGTG 0.587000 18 15 0 0 1 0 0 FBXO43 286151 broad.mit.edu 37 8 101157299 101157299 + Missense_Mutation SNP T T C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:101157299T>C ENST00000428847.2 - 1 381 c.65A>G c.(64-66)aAg>aGg p.K22R NM_001029860.3 NP_001025031.2 Q4G163 FBX43_HUMAN F-box protein 43 22 meiosis zinc ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) TCTTGAGCTCTTAGATGTCAA 0.338000 4 9 0 0 1 0 0 CYP4F22 126410 broad.mit.edu 37 19 15654797 15654797 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:15654797G>A ENST00000269703.2 + 9 1154 c.955G>A c.(955-957)Gaa>Aaa p.E319K CYP4F22_ENST00000601005.2_Missense_Mutation_p.E319K NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 319 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 AGATGGAAAGGAACTGTCAGA 0.557000 25 29 0 0 1 0 0 QRSL1 55278 broad.mit.edu 37 6 107102702 107102702 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:107102702C>T ENST00000369046.4 + 8 1051 c.947C>T c.(946-948)tCc>tTc p.S316F NM_018292.4 NP_060762.3 Q9H0R6 QRSL1_HUMAN glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 316 translation ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248) Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152) BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176) ATTGAAGTATCCCTTCCTCAC 0.423000 31 42 0 0 1 0 0 LRRC16B 90668 broad.mit.edu 37 14 24527380 24527380 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:24527380C>T ENST00000342740.5 + 17 1493 c.1339C>T c.(1339-1341)Ctc>Ttc p.L447F LRRC16B_ENST00000334420.7_5'UTR NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 447 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) GCTTCAGGGCCTCTCCCTCAA 0.657000 OREG0022615 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 15 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52321402 52321402 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:52321402G>A ENST00000356297.4 - 17 2882 c.2782C>T c.(2782-2784)Ccc>Tcc p.P928S PXDNL_ENST00000543296.1_Missense_Mutation_p.P928S NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 928 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.P127S(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TTTCCGGAGGGAGGCCAAGGA 0.647000 15 19 0 0 1 0 0 ZNF260 339324 broad.mit.edu 37 19 37005917 37005917 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:37005917C>T ENST00000523638.1 - 3 1345 c.224G>A c.(223-225)aGa>aAa p.R75K ZNF260_ENST00000592282.1_Missense_Mutation_p.R75K|ZNF260_ENST00000588993.1_Missense_Mutation_p.R75K|ZNF260_ENST00000593142.1_Missense_Mutation_p.R75K NM_001166036.1|NM_001166037.1|NM_001166038.1 NP_001159508.1|NP_001159509.1|NP_001159510.1 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 75 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8) 15 Esophageal squamous(110;0.162) TGTGTGACTTCTAAGGTGTAG 0.398000 55 40 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85600096 85600096 + Missense_Mutation SNP G G A rs138848829 by1000genomes TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:85600096G>A ENST00000322366.6 - 64 10479 c.10072C>T c.(10072-10074)Cgg>Tgg p.R3358W WDFY3_ENST00000295888.4_Missense_Mutation_p.R3375W Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 3375 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CTGTAATTCCGCACCTCAATG 0.507000 26 33 0 0 1 0 0 LY75 4065 broad.mit.edu 37 2 160755548 160755548 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:160755548G>A ENST00000263636.4 - 2 144 c.117C>T c.(115-117)gtC>gtT p.V39V LY75-CD302_ENST00000505052.1_Silent_p.V39V|LY75_ENST00000554112.1_Silent_p.V39V|LY75_ENST00000553424.1_Silent_p.V39V|LY75-CD302_ENST00000504764.1_Silent_p.V39V NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) TATTTCCATGGACGATGGTGA 0.507000 20 57 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56702302 56702302 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:56702302G>A ENST00000586855.2 - 4 956 c.643C>T c.(643-645)Ccg>Tcg p.P215S ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.P215S A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 215 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TTGGGTCTCGGAGAGTTTGGG 0.502000 25 60 0 0 1 0 0 PQBP1 10084 broad.mit.edu 37 X 48759695 48759695 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:48759695G>A ENST00000218224.4 + 4 732 c.478G>A c.(478-480)Gat>Aat p.D160N PQBP1_ENST00000447146.2_Missense_Mutation_p.D160N|PQBP1_ENST00000396763.1_Missense_Mutation_p.D160N|PQBP1_ENST00000376566.4_Intron|PQBP1_ENST00000247140.4_Intron|PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000376563.1_Missense_Mutation_p.D160N NM_005710.2 NP_005701.1 O60828 PQBP1_HUMAN polyglutamine binding protein 1 160 7 X 2 AA tandem repeats of [DE]-R.|Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|transcription coactivator activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2) 11 CAGGGAACGGGATCGGGACCG 0.622000 7 8 0 0 1 0 0 RBM42 79171 broad.mit.edu 37 19 36128155 36128155 + Nonsense_Mutation SNP A A T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:36128155A>T ENST00000262633.4 + 9 1336 c.1231A>T c.(1231-1233)Aag>Tag p.K411* RBM42_ENST00000588161.1_Nonsense_Mutation_p.K381*|RBM42_ENST00000589871.1_Nonsense_Mutation_p.K389*|RBM42_ENST00000360475.4_Nonsense_Mutation_p.K382*|RBM42_ENST00000589559.1_Intron|RBM42_ENST00000586618.1_Nonsense_Mutation_p.K115*|RBM42_ENST00000592202.1_Nonsense_Mutation_p.K357* NM_024321.3 NP_077297.2 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 411 Necessary for interaction with HNRNPK (By similarity).|RRM. cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCTTAAGGCCAAGGTGATCCG 0.582000 25 19 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16142124 16142124 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:16142124C>T ENST00000399408.2 + 10 1519 c.1344C>T c.(1342-1344)ccC>ccT p.P448P ABCC1_ENST00000346370.5_Silent_p.P448P|ABCC1_ENST00000351154.5_Silent_p.P448P|ABCC1_ENST00000349029.5_Silent_p.P448P|ABCC1_ENST00000399410.3_Silent_p.P448P|ABCC1_ENST00000345148.5_Silent_p.P448P P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 448 ABC transmembrane type-1 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GGTCAGCCCCCCTGCAAGTCA 0.552000 9 38 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262838 140262838 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:140262838C>T ENST00000289272.2 + 1 985 c.985C>T c.(985-987)Cca>Tca p.P329S PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P329S|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGAAATATTCCAATGGCGGG 0.398000 11 31 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39553645 39553645 + Missense_Mutation SNP C C A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:39553645C>A ENST00000251645.2 - 1 199 c.147G>T c.(145-147)gaG>gaT p.E49D NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 49 Head. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) TGAAGGAGCCCTCGCAGAACC 0.647000 4 68 1 1 1 1 0 ZNF790 388536 broad.mit.edu 37 19 37309404 37309404 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:37309404C>T ENST00000356725.4 - 5 1962 c.1842G>A c.(1840-1842)gaG>gaA p.E614E CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA NM_001242802.1|NM_206894.3 NP_001229731.1|NP_996777.2 Q6PG37 ZN790_HUMAN zinc finger protein 790 614 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 32 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CATAGGATTTCTCAAAAGTGT 0.323000 28 25 0 0 1 0 0 IGHM 3507 broad.mit.edu 37 14 106320606 106320606 + RNA SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:106320606C>T ENST00000390559.2 - 0 1203 CATTCCTCTTCGGACACGGTC 0.652000 12 20 0 0 1 0 0 MAGEA11 4110 broad.mit.edu 37 X 148797547 148797547 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:148797547G>A ENST00000355220.5 + 5 503 c.401G>A c.(400-402)gGc>gAc p.G134D MAGEA11_ENST00000333104.4_Missense_Mutation_p.G105D NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 134 cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GAAGACCTGGGCCTGGTGGGT 0.572000 18 9 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71743363 71743363 + Missense_Mutation SNP C C G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:71743363C>G ENST00000258104.3 + 8 1123 c.846C>G c.(844-846)atC>atG p.I282M DYSF_ENST00000410020.3_Missense_Mutation_p.I314M|DYSF_ENST00000409582.3_Missense_Mutation_p.I313M|DYSF_ENST00000409744.1_Missense_Mutation_p.I283M|DYSF_ENST00000409366.1_Missense_Mutation_p.I283M|DYSF_ENST00000394120.2_Missense_Mutation_p.I283M|DYSF_ENST00000429174.2_Missense_Mutation_p.I282M|DYSF_ENST00000409762.1_Missense_Mutation_p.I313M|DYSF_ENST00000410041.1_Missense_Mutation_p.I314M|DYSF_ENST00000409651.1_Missense_Mutation_p.I314M|DYSF_ENST00000413539.2_Missense_Mutation_p.I313M NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 282 C2 2. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 ATGAGCCCATCTTTATCACGG 0.488000 12 19 0 0 1 0 0 FOXG1 2290 broad.mit.edu 37 14 29237522 29237522 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:29237522C>T ENST00000382535.3 + 2 1406 c.1037C>T c.(1036-1038)aCt>aTt p.T346I FOXG1_ENST00000313071.4_Missense_Mutation_p.T346I P55316 FOXG1_HUMAN forkhead box G1 346 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) TCCGTGTTGACTCAGAACTCG 0.647000 49 63 0 0 1 0 0 DHRS4 10901 broad.mit.edu 37 14 24435492 24435492 + Splice_Site SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:24435492G>A ENST00000313250.5 + 6 735 c.531_splice c.e6-1 p.G178_splice DHRS4_ENST00000382761.3_Intron|DHRS4_ENST00000308178.8_Intron|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000421831.1_Splice_Site_p.G126_splice|DHRS4_ENST00000558263.1_Intron|DHRS4_ENST00000397075.3_Intron|DHRS4_ENST00000558581.1_Splice_Site_p.G144_splice|DHRS4_ENST00000543741.2_Intron|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000559632.1_Intron NM_021004.2 NP_066284.2 Q9BTZ2 DHRS4_HUMAN dehydrogenase/reductase (SDR family) member 4 178 mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) CTTTCTCCAGGGCTTCAGTCC 0.478000 20 47 0 0 1 0 0 TPRA1 131601 broad.mit.edu 37 3 127298867 127298867 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:127298867G>A ENST00000355552.3 - 2 499 c.123C>T c.(121-123)tcC>tcT p.S41S TPRA1_ENST00000489960.1_Silent_p.S41S|TPRA1_ENST00000296210.7_Silent_p.S41S|TPRA1_ENST00000450633.2_Silent_p.S41S NM_001136053.1 NP_001129525.1 Q86W33 TPRA1_HUMAN transmembrane protein, adipocyte asscociated 1 41 aging|lipid metabolic process integral to membrane G-protein coupled receptor activity endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 9 TGCCTCACCTGGAGGTGCCAA 0.612000 24 40 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16142123 16142123 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:16142123C>T ENST00000399408.2 + 10 1518 c.1343C>T c.(1342-1344)cCc>cTc p.P448L ABCC1_ENST00000346370.5_Missense_Mutation_p.P448L|ABCC1_ENST00000351154.5_Missense_Mutation_p.P448L|ABCC1_ENST00000349029.5_Missense_Mutation_p.P448L|ABCC1_ENST00000399410.3_Missense_Mutation_p.P448L|ABCC1_ENST00000345148.5_Missense_Mutation_p.P448L P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 448 ABC transmembrane type-1 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TGGTCAGCCCCCCTGCAAGTC 0.547000 9 39 0 0 1 0 0 KCTD21 283219 broad.mit.edu 37 11 77885272 77885272 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:77885272G>A ENST00000340067.3 - 2 607 c.329C>T c.(328-330)gCc>gTc p.A110V KCTD21-AS1_ENST00000600795.1_RNA NM_001029859.1 NP_001025030.1 Q4G0X4 KCD21_HUMAN potassium channel tetramerization domain containing 21 110 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2) 11 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.46e-24) GTTGAGCATGGCATTCTTCTC 0.602000 19 24 0 0 1 0 0 HNRNPLL 92906 broad.mit.edu 37 2 38800437 38800437 + Missense_Mutation SNP A A G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:38800437A>G ENST00000449105.2 - 8 1346 c.1007T>C c.(1006-1008)gTt>gCt p.V336A HNRNPLL_ENST00000409636.1_Missense_Mutation_p.V331A|HNRNPLL_ENST00000409328.1_Missense_Mutation_p.V302A|HNRNPLL_ENST00000378915.3_Missense_Mutation_p.V302A NM_138394.3 NP_612403.2 heterogeneous nuclear ribonucleoprotein L-like AACCATTACAACTGAACCAGA 0.388000 16 14 0 0 1 0 0 TC2N 123036 broad.mit.edu 37 14 92251698 92251698 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:92251698G>A ENST00000435962.2 - 11 1493 c.1170C>T c.(1168-1170)ttC>ttT p.F390F TC2N_ENST00000360594.5_Silent_p.F390F|TC2N_ENST00000556018.1_Silent_p.F326F|TC2N_ENST00000340892.5_Silent_p.F390F NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 390 C2. nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) CCACCTTCACGAAAAAACCTA 0.323000 52 65 0 0 1 0 0 PLA2G2E 30814 broad.mit.edu 37 1 20248868 20248868 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:20248868C>T ENST00000375116.3 - 3 266 c.209G>A c.(208-210)gGg>gAg p.G70E NM_014589.1 NP_055404.1 Q9NZK7 PA2GE_HUMAN phospholipase A2, group IIE 70 inflammatory response|lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1) 10 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CTCCAGACGCCCGTAGCAGCA 0.607000 10 7 0 0 1 0 0 FAM105B 90268 broad.mit.edu 37 5 14687733 14687733 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:14687733C>T ENST00000284274.4 + 5 650 c.572C>T c.(571-573)tCc>tTc p.S191F NM_138348.4 NP_612357.4 Q96BN8 F105B_HUMAN family with sequence similarity 105, member B 191 breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 14 Lung NSC(4;0.00696) ATTAAAGAGTCCCTTACTCTG 0.423000 28 49 0 0 1 0 0 HERC2P2 400322 broad.mit.edu 37 15 23335584 23335584 + RNA SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:23335584G>A ENST00000560464.1 - 0 556 TCGTTATTATGGTTCTCCAAA 0.368000 8 31 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50686468 50686468 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:50686468G>A ENST00000355832.5 - 11 2296 c.2218C>T c.(2218-2220)Cca>Tca p.P740S ERCC6_ENST00000542458.1_Missense_Mutation_p.P110S NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 740 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 AGTAGGTATGGATTTATGGTA 0.388000 Direct reversal of damage;Nucleotide excision repair (NER) 25 71 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27202969 27202969 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:27202969G>A ENST00000380036.4 + 13 2503 c.2061G>A c.(2059-2061)gtG>gtA p.V687V TEK_ENST00000519097.1_Silent_p.V540V|TEK_ENST00000406359.4_Silent_p.V644V NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 687 Fibronectin type-III 3. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) ACGTTGATGTGAAGATAAAGA 0.423000 41 25 0 0 1 0 0 CPA1 1357 broad.mit.edu 37 7 130025062 130025062 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:130025062C>T ENST00000011292.3 + 8 1013 c.863C>T c.(862-864)tCc>tTc p.S288F CPA1_ENST00000484324.1_Missense_Mutation_p.S200F NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 288 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) GAGGTCAAGTCCATTGTAGAC 0.537000 25 26 0 0 1 0 0 TSSC4 10078 broad.mit.edu 37 11 2424529 2424529 + Silent SNP C C T rs61741006 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:2424529C>T ENST00000333256.6 + 3 1109 c.666C>T c.(664-666)gtC>gtT p.V222V TSSC4_ENST00000380992.1_Intron|TSSC4_ENST00000451491.2_Silent_p.V222V|TSSC4_ENST00000380996.5_Silent_p.V158V|TSSC4_ENST00000467308.1_Intron Q9Y5U2 TSSC4_HUMAN tumor suppressing subtransferable candidate 4 222 endometrium(3)|large_intestine(1)|lung(4) 8 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19) TCCGAGGGGTCGAAGCCAGAC 0.657000 10 19 0 0 1 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24253304 24253304 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:24253304G>A ENST00000538205.1 + 6 745 c.198G>A c.(196-198)ggG>ggA p.G66G RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.G145G|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.G66G NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 145 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) CTTGTGACGGGTTGAGGTAAG 0.343000 12 25 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72285743 72285743 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:72285743G>A ENST00000579490.1 + 4 784 c.649G>A c.(649-651)Gaa>Aaa p.E217K DNAI2_ENST00000311014.6_Missense_Mutation_p.E160K|DNAI2_ENST00000307504.5_Missense_Mutation_p.E17K|DNAI2_ENST00000582036.1_Missense_Mutation_p.E160K|DNAI2_ENST00000446837.2_Missense_Mutation_p.E160K Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 160 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GGACCCCCAGGAAATCAAGAG 0.552000 Kartagener syndrome 8 33 0 0 1 0 0 TECTB 6975 broad.mit.edu 37 10 114044355 114044355 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:114044355G>A ENST00000369422.3 + 2 139 c.139G>A c.(139-141)Gga>Aga p.G47R NM_058222.1 NP_478129.1 Q96PL2 TECTB_HUMAN tectorin beta 47 ZP. anchored to membrane|plasma membrane|proteinaceous extracellular matrix kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.198) Epithelial(162;0.0143)|all cancers(201;0.0242) GTGTCCCTATGGATGGGAAGT 0.443000 5 14 0 0 1 0 0 OR5AK2 390181 broad.mit.edu 37 11 56757303 56757303 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:56757303G>A ENST00000326855.2 + 1 957 c.915G>A c.(913-915)ggG>ggA p.G305G NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 AAGTGATAGGGAAAAAGTTAT 0.303000 6 9 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168838922 168838922 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:168838922C>T ENST00000464456.1 - 6 1690 c.490G>A c.(490-492)Gag>Aag p.E164K MECOM_ENST00000468789.1_Missense_Mutation_p.E164K|MECOM_ENST00000433243.2_Missense_Mutation_p.E165K|MECOM_ENST00000264674.3_Missense_Mutation_p.E229K|MECOM_ENST00000494292.1_Missense_Mutation_p.E352K|MECOM_ENST00000472280.1_Missense_Mutation_p.E165K|MECOM_ENST00000392736.3_Missense_Mutation_p.E164K|MECOM_ENST00000460814.1_Missense_Mutation_p.E164K NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TTGCCACACTCCGGGCATGCA 0.527000 7 13 0 0 1 0 0 ZIK1 284307 broad.mit.edu 37 19 58102227 58102227 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:58102227C>T ENST00000597850.1 + 4 1263 c.1048C>T c.(1048-1050)Cct>Tct p.P350S ZIK1_ENST00000599456.1_Missense_Mutation_p.P295S|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.P337S NM_001010879.2 NP_001010879.2 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 1 350 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TGGAGAAAGGCCTTATAAGTG 0.448000 27 30 0 0 1 0 0 FOXJ3 22887 broad.mit.edu 37 1 42744051 42744051 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:42744051G>A ENST00000372572.1 - 5 648 c.337C>T c.(337-339)Cca>Tca p.P113S FOXJ3_ENST00000372573.1_Missense_Mutation_p.P113S|FOXJ3_ENST00000361346.1_Missense_Mutation_p.P113S|FOXJ3_ENST00000545068.1_Missense_Mutation_p.P113S|FOXJ3_ENST00000361776.1_Missense_Mutation_p.P113S NM_001198851.1 NP_001185780.1 Q9UPW0 FOXJ3_HUMAN forkhead box J3 113 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CTATAATATGGGAAGTTATCA 0.313000 22 26 0 0 1 0 0 C19orf80 55908 broad.mit.edu 37 19 11350541 11350541 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:11350541C>T ENST00000252453.8 + 1 247 c.228C>T c.(226-228)ctC>ctT p.L76L DOCK6_ENST00000294618.7_Intron|C19orf80_ENST00000591200.1_Intron NM_018687.6 NP_061157.3 Q6UXH0 TD26_HUMAN chromosome 19 open reading frame 80 76 extracellular region NS(1)|breast(1)|endometrium(2) 4 CAATAGAACTCCTGGGGCAGG 0.647000 4 9 0 0 1 0 0 LMAN1 3998 broad.mit.edu 37 18 56998709 56998709 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr18:56998709G>A ENST00000251047.5 - 12 2154 c.1437C>T c.(1435-1437)gtC>gtT p.V479V NM_005570.3 NP_005561.1 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 479 blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) TAATGAAGTGGACCGTAGACA 0.348000 13 18 0 0 1 0 0 ANKRD50 57182 broad.mit.edu 37 4 125593259 125593259 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:125593259G>A ENST00000504087.1 - 4 2210 c.1173C>T c.(1171-1173)atC>atT p.I391I ANKRD50_ENST00000515641.1_Silent_p.I212I NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 391 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 GTTTGGAGAGGATATCTAACT 0.393000 43 36 0 0 1 0 0 TAAR6 319100 broad.mit.edu 37 6 132891549 132891549 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:132891549G>A ENST00000275198.1 + 1 89 c.89G>A c.(88-90)gGa>gAa p.G30E NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 30 plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) TTCTCGCCGGGATCCCGGGTG 0.517000 33 36 0 0 1 0 0 PSMB9 5698 broad.mit.edu 37 6 32826288 32826288 + Nonsense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:32826288C>T ENST00000453265.2 + 4 475 c.406C>T c.(406-408)Cag>Tag p.Q136* PSMB9_ENST00000374859.2_Intron|PSMB9_ENST00000395330.1_Intron P28065 PSB9_HUMAN proteasome (prosome, macropain) subunit, beta type, 9 0 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity large_intestine(4)|lung(4)|skin(1) 9 AGACGGTAACCAGCCAAGTGG 0.507000 6 17 0 0 1 0 0 PPBPP2 10895 broad.mit.edu 37 4 74919832 74919832 + RNA SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:74919832C>T ENST00000513150.1 - 0 1284 NR_026769.1 ATTTTTTCTCCCATCTTACAG 0.398000 5 6 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141727420 141727420 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:141727420G>A ENST00000475668.2 + 10 1160 c.1106G>A c.(1105-1107)cGg>cAg p.R369Q MGAM_ENST00000549489.2_Missense_Mutation_p.R369Q O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 369 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTCATTGGGCGGCCAGCCCTT 0.428000 19 14 0 0 1 0 0 PTGER3 5733 broad.mit.edu 37 1 71512400 71512400 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:71512400G>A ENST00000370924.4 - 1 1091 c.861C>T c.(859-861)atC>atT p.I287I PTGER3_ENST00000356595.4_Silent_p.I287I|PTGER3_ENST00000370932.2_Silent_p.I287I|PTGER3_ENST00000370931.3_Silent_p.I287I|PTGER3_ENST00000306666.5_Silent_p.I287I|PTGER3_ENST00000351052.5_Silent_p.I287I|PTGER3_ENST00000354608.5_Silent_p.I287I|PTGER3_ENST00000460330.1_Silent_p.I287I|PTGER3_ENST00000414819.1_Silent_p.I287I NM_198715.2 NP_942008.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 287 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 p.I287I(5) endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) GCACGCACATGATCCCCATAA 0.627000 14 24 0 0 1 0 0 STAT1 6772 broad.mit.edu 37 2 191848401 191848401 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:191848401G>A ENST00000361099.3 - 17 1800 c.1413C>T c.(1411-1413)atC>atT p.I471I STAT1_ENST00000392323.2_Silent_p.I473I|STAT1_ENST00000392322.3_Silent_p.I471I|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.I471I NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 471 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) TGTACCAAAGGATGGAGGCCC 0.532000 14 56 0 0 1 0 0 PQLC2 54896 broad.mit.edu 37 1 19651188 19651188 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:19651188C>T ENST00000375153.3 + 3 866 c.226C>T c.(226-228)Ctg>Ttg p.L76L PQLC2_ENST00000400548.2_Silent_p.L11L|PQLC2_ENST00000375155.3_Silent_p.L76L NM_001040125.1 NP_001035214.1 Q6ZP29 PQLC2_HUMAN PQ loop repeat containing 2 76 PQ-loop 1. integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GTGGTTCCTCCTGGGCTGGAT 0.622000 26 31 0 0 1 0 0 SGMS1 259230 broad.mit.edu 37 10 52103296 52103296 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:52103296G>A ENST00000361781.2 - 7 1538 c.579C>T c.(577-579)atC>atT p.I193I SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Silent_p.I193I NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 199 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 GTCCTACAAGGATCATGCCAT 0.408000 14 10 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176934324 176934324 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:176934324C>T ENST00000367654.2 - 9 1610 c.1597G>A c.(1597-1599)Gag>Aag p.E533K ASTN1_ENST00000424564.2_Missense_Mutation_p.E525K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E525K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.E525K O14525 ASTN1_HUMAN astrotactin 1 533 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GAGGGCTGCTCTCCCAAAACC 0.423000 19 26 0 0 1 0 0 COL6A1 1291 broad.mit.edu 37 21 47414120 47414120 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr21:47414120C>T ENST00000361866.3 + 20 1489 c.1375C>T c.(1375-1377)Ccc>Tcc p.P459S NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 459 Triple-helical region. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) AAGAGAAGGCCCCGTTGGTGT 0.637000 3 11 0 0 1 0 0 FMNL1 752 broad.mit.edu 37 17 43323271 43323271 + Nonsense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:43323271G>A ENST00000331495.3 + 24 3357 c.3021G>A c.(3019-3021)tgG>tgA p.W1007* CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000587489.1_Nonsense_Mutation_p.W585*|FMNL1_ENST00000328118.3_Nonsense_Mutation_p.W1007* NM_005892.3 NP_005883.2 O95466 FMNL_HUMAN formin-like 1 1007 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 TGGAACAGTGGAAAAAAGAAG 0.632000 8 12 0 0 1 0 0 LILRA2 11027 broad.mit.edu 37 19 55085884 55085884 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:55085884G>A ENST00000251377.3 + 4 320 c.187G>A c.(187-189)Gaa>Aaa p.E63K LILRA2_ENST00000391738.3_Missense_Mutation_p.E63K|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.E51K|LILRA2_ENST00000251376.3_Missense_Mutation_p.E63K|LILRA2_ENST00000495786.1_3'UTR leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) TCTATATAGGGAAAACAAATC 0.557000 41 18 0 0 1 0 0 SLC30A9 10463 broad.mit.edu 37 4 42041010 42041010 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:42041010C>T ENST00000264451.6 + 8 857 c.677C>T c.(676-678)tCc>tTc p.S226F NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 226 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CAGCCACGCTCCAGAACAGCA 0.358000 17 30 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8792192 8792192 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:8792192G>A ENST00000447110.1 - 10 1036 c.912C>T c.(910-912)atC>atT p.I304I PIK3R5_ENST00000581552.1_Silent_p.I304I|PIK3R5_ENST00000584803.1_Silent_p.I304I NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 304 DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 CCTTGAGCAGGATTTCCTGCA 0.582000 7 18 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560486 44560486 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr18:44560486C>T ENST00000332567.4 - 1 1502 c.1150G>A c.(1150-1152)Gaa>Aaa p.E384K KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 384 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 AGGTATTTTTCACATGACAGA 0.488000 24 38 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167495 140167495 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:140167495G>A ENST00000504120.2 + 1 1620 c.1620G>A c.(1618-1620)gcG>gcA p.A540A PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.A540A NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGGGATGCGGGCGTGCCGC 0.682000 40 80 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40589767 40589767 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:40589767C>T ENST00000260402.3 - 13 1527 c.1278G>A c.(1276-1278)acG>acA p.T426T PLCB2_ENST00000456256.2_Silent_p.T426T|PLCB2_ENST00000557821.1_Silent_p.T426T NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 426 PI-PLC X-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.T426T(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) CCCCAAAGATCGTCCGGCAAT 0.597000 16 16 0 0 1 0 0 FSIP1 161835 broad.mit.edu 37 15 39910028 39910028 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:39910028G>A ENST00000350221.3 - 11 1816 c.1607C>T c.(1606-1608)tCc>tTc p.S536F NM_152597.4 NP_689810.3 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 536 p.S536F(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) ATCTAAGAAGGAGGGCCTTTT 0.403000 18 53 0 0 1 0 0 ITPKB 3707 broad.mit.edu 37 1 226925114 226925114 + Missense_Mutation SNP T T C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:226925114T>C ENST00000429204.1 - 2 373 c.46A>G c.(46-48)Agc>Ggc p.S16G ITPKB_ENST00000272117.3_Missense_Mutation_p.S16G|ITPKB_ENST00000366784.1_Missense_Mutation_p.S16G NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 16 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) TCGTTGGCGCTATTCATGATC 0.701000 15 14 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53092785 53092785 + Silent SNP T T C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:53092785T>C ENST00000276480.7 - 9 857 c.174A>G c.(172-174)ctA>ctG p.L58L NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 58 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GGGGCTTCATTAGCAGGGATT 0.507000 28 64 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54661851 54661851 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:54661851G>A ENST00000474759.1 + 10 1049 c.1001G>A c.(1000-1002)gGa>gAa p.G334E CACNA2D3_ENST00000288197.5_Missense_Mutation_p.G334E|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.G240E|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.G334E NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 334 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TTCGCCAAAGGAATTGGAATG 0.418000 6 2 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148711386 148711386 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:148711386G>A ENST00000367467.3 + 2 748 c.273G>A c.(271-273)caG>caA p.Q91Q SASH1_ENST00000367469.1_Silent_p.Q46Q NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 91 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GGGTTTCCCAGGACCTGGAAG 0.537000 10 12 0 0 1 0 0 PDZK1IP1 10158 broad.mit.edu 37 1 47655565 47655565 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:47655565C>T ENST00000294338.2 - 1 162 c.40G>A c.(40-42)Gca>Aca p.A14T PDZK1IP1_ENST00000371885.1_Missense_Mutation_p.A14T NM_005764.3 NP_005755.1 Q13113 PDZ1I_HUMAN PDZK1 interacting protein 1 14 integral to membrane endometrium(1)|lung(1)|prostate(1) 3 GGTGGCACTGCCGTGAGCAGG 0.667000 5 10 0 0 1 0 0 FBXO22 26263 broad.mit.edu 37 15 76225224 76225224 + Silent SNP T T C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:76225224T>C ENST00000308275.3 + 7 1098 c.993T>C c.(991-993)ttT>ttC p.F331F FBXO22_ENST00000540507.1_Silent_p.F227F NM_147188.2 NP_671717.1 Q8NEZ5 FBX22_HUMAN F-box protein 22 331 ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 GCAGGGGCTTTCAGTATTACA 0.468000 20 45 0 0 1 0 0 TLR8 51311 broad.mit.edu 37 X 12938612 12938612 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:12938612G>A ENST00000218032.6 + 2 1540 c.1453G>A c.(1453-1455)Gcc>Acc p.A485T TLR8_ENST00000311912.5_Missense_Mutation_p.A503T NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 485 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TTATGGAAAAGCCTTAGATTT 0.393000 24 31 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16262467 16262467 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:16262467C>T ENST00000375759.3 + 11 9936 c.9732C>T c.(9730-9732)acC>acT p.T3244T NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3244 Pro-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CTgcccccacccccacccctg 0.672000 11 6 0 0 1 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49360692 49360692 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:49360692G>A ENST00000263265.6 - 9 1589 c.1034C>T c.(1033-1035)tCc>tTc p.S345F PLEKHA4_ENST00000355496.5_Intron NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 345 Pro-rich. cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) TAAAACCATGGAGGCCCGGGT 0.562000 7 5 0 0 1 0 0 IL1RL1 9173 broad.mit.edu 37 2 102968048 102968048 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:102968048C>T ENST00000233954.1 + 11 1609 c.1338C>T c.(1336-1338)ttC>ttT p.F446F NM_016232.4 NP_057316.3 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 446 TIR. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 GGCACATTTTCATCCTGACCC 0.458000 19 15 0 0 1 0 0 EXOC8 149371 broad.mit.edu 37 1 231472294 231472294 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:231472294G>A ENST00000366645.1 - 1 1304 c.1186C>T c.(1186-1188)Cca>Tca p.P396S EXOC8_ENST00000360394.2_Missense_Mutation_p.P400S Q8IYI6 EXOC8_HUMAN exocyst complex component 8 400 exocytosis|protein transport growth cone|nucleus protein binding cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1) 14 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) GAACGATCTGGGGAGAGTTCG 0.542000 15 26 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167496 140167496 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:140167496G>A ENST00000504120.2 + 1 1621 c.1621G>A c.(1621-1623)Ggc>Agc p.G541S PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.G541S NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGGATGCGGGCGTGCCGCC 0.682000 40 80 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100552303 100552303 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:100552303C>T ENST00000319509.7 + 1 1054 c.1054C>T c.(1054-1056)Ccc>Tcc p.P352S mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TACTTCTCCTCCCACCACCCC 0.468000 16 300 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57744476 57744476 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:57744476G>A ENST00000281282.5 + 6 2121 c.2043G>A c.(2041-2043)aaG>aaA p.K681K NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 681 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) AGCTCCGGAAGAATCTGGAGG 0.498000 10 12 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212248773 212248773 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:212248773G>A ENST00000342788.4 - 28 3804 c.3494C>T c.(3493-3495)cCa>cTa p.P1165L ERBB4_ENST00000436443.1_Missense_Mutation_p.P1149L|ERBB4_ENST00000402597.1_Missense_Mutation_p.P1155L NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 1165 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CTCCTCCACTGGATTCAGGTA 0.383000 TSP Lung(8;0.080) 25 26 0 0 1 0 0 GBA3 57733 broad.mit.edu 37 4 22729452 22729452 + RNA SNP G G T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:22729452G>T ENST00000508166.1 + 0 160 GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA NM_020973.4 NP_066024.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AACTGTGACTGCATAGTTGTC 0.413000 43 53 1.62957e-23 1.67002e-23 1 1 0 ITIH5 80760 broad.mit.edu 37 10 7697616 7697616 + Missense_Mutation SNP T T G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:7697616T>G ENST00000256861.6 - 2 191 c.113A>C c.(112-114)cAa>cCa p.Q38P ITIH5_ENST00000397145.2_Missense_Mutation_p.Q38P|ITIH5_ENST00000397146.2_Missense_Mutation_p.Q38P|ITIH5_ENST00000446830.2_5'UTR NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 38 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 CAGTCTGACTTGCCTCGGGAC 0.403000 7 21 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57640963 57640963 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:57640963C>T ENST00000254181.4 + 4 1374 c.920C>T c.(919-921)cCa>cTa p.P307L USP29_ENST00000598197.1_Missense_Mutation_p.P307L NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 307 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTTGCAATTCCATCTTTTGCT 0.438000 17 41 0 0 1 0 0 RASSF6 166824 broad.mit.edu 37 4 74453617 74453617 + Missense_Mutation SNP G G A rs142555062 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:74453617G>A ENST00000307439.5 - 5 616 c.322C>T c.(322-324)Cgt>Tgt p.R108C RASSF6_ENST00000395777.2_Missense_Mutation_p.R108C|RASSF6_ENST00000342081.3_Missense_Mutation_p.R140C|RASSF6_ENST00000335049.5_Missense_Mutation_p.R96C NM_001270391.1|NM_177532.4 NP_001257320.1|NP_803876.1 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family member 6 140 apoptosis|signal transduction protein binding p.R140C(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TCACTAATACGATAGAGATCG 0.383000 33 27 0 0 1 0 0 KERA 11081 broad.mit.edu 37 12 91449866 91449866 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:91449866C>T ENST00000266719.3 - 2 440 c.193G>A c.(193-195)Gaa>Aaa p.E65K NM_007035.3 NP_008966.1 O60938 KERA_HUMAN keratocan 65 LRRNT. response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 GCAGGAATTTCTTTGAGACCT 0.388000 17 21 0 0 1 0 0 SFMBT1 51460 broad.mit.edu 37 3 52940169 52940169 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:52940169G>A ENST00000394752.3 - 20 2802 c.2420C>T c.(2419-2421)tCc>tTc p.S807F SFMBT1_ENST00000296295.6_Intron|SFMBT1_ENST00000394750.1_Missense_Mutation_p.S807F|SFMBT1_ENST00000358080.2_Missense_Mutation_p.S807F NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 807 SAM. regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) ACAGTCAGTGGATCTGATGAA 0.413000 23 18 0 0 1 0 0 RFC3 5983 broad.mit.edu 37 13 34410402 34410402 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr13:34410402G>A ENST00000380071.3 + 9 1171 c.1041G>A c.(1039-1041)atG>atA p.M347I RFC3_ENST00000434425.1_Intron NM_002915.3 NP_002906.1 P40938 RFC3_HUMAN replication factor C (activator 1) 3, 38kDa 347 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding lung(2)|skin(1) 3 Hepatocellular(188;0.0191)|Lung SC(185;0.0548) all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123) AGAAGTTCATGGAGGATGGAT 0.398000 94 12 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103470339 103470339 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:103470339G>A ENST00000361246.2 - 4 661 c.373C>T c.(373-375)Cgc>Tgc p.R125C NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 125 Protein kinase. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) AGCACATCGCGCTCCTCTCGG 0.627000 8 11 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 62986530 62986530 + Nonsense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:62986530C>T ENST00000561311.1 + 13 1461 c.1231C>T c.(1231-1233)Cga>Tga p.R411* TLN2_ENST00000306829.6_Nonsense_Mutation_p.R411* Q9Y4G6 TLN2_HUMAN talin 2 411 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 AAGTAAAGATCGATTTGGACT 0.448000 6 36 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50769007 50769007 + Missense_Mutation SNP T T G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:50769007T>G ENST00000216923.4 - 6 2073 c.1724A>C c.(1723-1725)gAg>gCg p.E575A ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.E521A|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.E573A NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 575 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 GTCCGTCTGCTCGTGGGTGGT 0.647000 13 12 0 0 1 0 0 IGSF9 57549 broad.mit.edu 37 1 159901688 159901688 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:159901688C>T ENST00000368094.1 - 11 1473 c.1276G>A c.(1276-1278)Gaa>Aaa p.E426K IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.E410K NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 426 Ig-like 5. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) AAATATTCTTCCTTGGGCCGC 0.577000 14 36 0 0 1 0 0 MAST2 23139 broad.mit.edu 37 1 46383157 46383157 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:46383157C>T ENST00000372008.1 + 2 274 c.107C>T c.(106-108)gCc>gTc p.A36V MAST2_ENST00000372009.2_Intron|MAST2_ENST00000361297.2_Intron Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 1641 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) AACCCACGAGCCCACAGCAGT 0.532000 18 39 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38997973 38997973 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:38997973C>T ENST00000359357.3 + 91 13532 c.13278C>T c.(13276-13278)ttC>ttT p.F4426F DNAH8_ENST00000441566.1_Silent_p.F4390F dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGGTACTCTTCACGCAGTTAC 0.517000 OREG0017409 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 22 0 0 1 0 0 CELF4 56853 broad.mit.edu 37 18 34854406 34854406 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr18:34854406G>A ENST00000420428.2 - 6 1064 c.669C>T c.(667-669)tcC>tcT p.S223S RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000601019.1_Silent_p.S222S|CELF4_ENST00000334919.5_Silent_p.S213S|CELF4_ENST00000591282.1_Silent_p.S223S|CELF4_ENST00000361795.5_Silent_p.S222S|CELF4_ENST00000591287.1_Silent_p.S222S|CELF4_ENST00000412753.1_Silent_p.S223S|CELF4_ENST00000603232.1_Silent_p.S223S|CELF4_ENST00000588597.1_Silent_p.S212S NM_020180.3 NP_064565.1 Q9BZC1 CELF4_HUMAN CUGBP, Elav-like family member 4 223 RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 CCACCAGACTGGACGAGGCTC 0.701000 32 45 0 0 1 0 0 MPZL3 196264 broad.mit.edu 37 11 118106264 118106264 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:118106264G>A ENST00000278949.4 - 4 547 c.492C>T c.(490-492)atC>atT p.I164I MPZL3_ENST00000527472.1_Silent_p.I152I|MPZL3_ENST00000525386.1_Intron Q6UWV2 MPZL3_HUMAN myelin protein zero-like 3 164 cell adhesion integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.046) Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) CAAAGACAAGGATGGAAAGAA 0.532000 24 47 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 124009158 124009158 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:124009158G>A ENST00000369005.1 + 22 9100 c.8760G>A c.(8758-8760)ctG>ctA p.L2920L TACC2_ENST00000358010.1_Silent_p.L1066L|TACC2_ENST00000360561.3_Silent_p.L968L|TACC2_ENST00000369004.3_Silent_p.L980L|TACC2_ENST00000453444.2_Silent_p.L2847L|TACC2_ENST00000368999.1_Silent_p.L1010L|TACC2_ENST00000513429.1_Silent_p.L1066L|TACC2_ENST00000369000.1_Silent_p.L543L|TACC2_ENST00000260733.3_Silent_p.L998L|TACC2_ENST00000334433.3_Silent_p.L2920L|TACC2_ENST00000369001.1_Silent_p.L547L|TACC2_ENST00000515603.1_Silent_p.L2798L|TACC2_ENST00000515273.1_Silent_p.L2847L NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2920 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TGGACGCCCTGGAAAGGACGC 0.657000 9 11 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891299 18891299 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:18891299G>A ENST00000317658.3 + 1 255 c.97G>A c.(97-99)Gat>Aat p.D33N NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 33 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) TGCCTTTGATGATCTCTGTCT 0.458000 20 21 0 0 1 0 0 BRCA1 672 broad.mit.edu 37 17 41243906 41243906 + Missense_Mutation SNP C C A rs80357805 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:41243906C>A ENST00000309486.4 - 9 3781 c.2754G>T c.(2752-2754)gaG>gaT p.E918D BRCA1_ENST00000471181.2_Missense_Mutation_p.E1214D|BRCA1_ENST00000354071.3_Missense_Mutation_p.E1214D|BRCA1_ENST00000493795.1_Missense_Mutation_p.E1167D|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.E1214D|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.E1214D NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 1214 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TAGATAAGTTCTCTTCTGAGG 0.453000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 16 23 4.7546e-09 4.81289e-09 1 1 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658179 72658179 + RNA SNP T T C rs147293416 by1000genomes TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:72658179T>C ENST00000425256.1 - 0 1732 NR_002164.1 cagagtgatttcggatgaatt 0.507000 3 32 0 0 1 0 0 PDIA5 10954 broad.mit.edu 37 3 122869163 122869163 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:122869163G>A ENST00000316218.7 + 14 1320 c.1225G>A c.(1225-1227)Gag>Aag p.E409K PDIA5_ENST00000467157.1_3'UTR NM_006810.3 NP_006801.1 Q14554 PDIA5_HUMAN protein disulfide isomerase family A, member 5 409 Thioredoxin 3. cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 21 GBM - Glioblastoma multiforme(114;0.0427) CAACTTCCGGGAGACCCTGAA 0.602000 19 31 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57417739 57417739 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:57417739C>T ENST00000543257.1 - 6 1058 c.492G>A c.(490-492)gtG>gtA p.V164V C8B_ENST00000535057.1_Silent_p.V154V|C8B_ENST00000371237.4_Silent_p.V216V NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 216 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 TGTAGCTTTCCACATTGTAGG 0.552000 20 39 0 0 1 0 0 GFRAL 389400 broad.mit.edu 37 6 55216216 55216216 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:55216216C>T ENST00000340465.2 + 5 622 c.536C>T c.(535-537)cCt>cTt p.P179L NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 179 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CAAAATATACCTTTTAACATT 0.438000 40 71 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139180229 139180229 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:139180229G>A ENST00000395297.1 - 12 1337 c.1167C>T c.(1165-1167)ccC>ccT p.P389P NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 389 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CAGGCAGCGGGGGCATGCTAG 0.602000 HNSCC(54;0.14) 26 132 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2530228 2530228 + Splice_Site SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:2530228C>T ENST00000288709.6 - 12 1256 c.1014_splice c.e12-1 p.G339_splice MMEL1_ENST00000502556.1_Splice_Site_p.G191_splice|MMEL1_ENST00000378412.3_Splice_Site_p.G348_splice NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 348 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) CCAGTTAAATCCCTGCAGATA 0.488000 9 13 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5841701 5841701 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:5841701C>T ENST00000327087.8 - 15 1601 c.1530G>A c.(1528-1530)acG>acA p.T510T ANO2_ENST00000546188.1_Silent_p.T511T|ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000356134.5_Silent_p.T511T Q9NQ90 ANO2_HUMAN anoctamin 2 515 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 CGCCACACTCCGTCGTGTTTG 0.463000 6 24 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113520099 113520099 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:113520099G>A ENST00000284601.3 - 4 1116 c.1048C>T c.(1048-1050)Cca>Tca p.P350S NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 350 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 GCTTTATTTGGAAAATTGACT 0.373000 57 48 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80328537 80328537 + Missense_Mutation SNP C C T rs150499437 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:80328537C>T ENST00000358842.3 - 1 835 c.818G>A c.(817-819)gGa>gAa p.G273E NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 273 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity p.G273E(1) autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 TTTGGCTTGTCCCTCCTGGAA 0.458000 25 28 0 0 1 0 0 CSF2RB 1439 broad.mit.edu 37 22 37333851 37333851 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr22:37333851C>T ENST00000262825.5 + 14 2236 c.2019C>T c.(2017-2019)tcC>tcT p.S673S CSF2RB_ENST00000403662.3_Silent_p.S667S|CSF2RB_ENST00000536485.1_Silent_p.S614S|CSF2RB_ENST00000406230.1_Silent_p.S673S NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 667 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) GGAGTCCCTCCCTGGAGTCCG 0.682000 5 4 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136561546 136561546 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:136561546G>A ENST00000264162.2 - 11 4627 c.4617C>T c.(4615-4617)ccC>ccT p.P1539P NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1539 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CAATGACAAAGGGCTCATTCA 0.512000 13 21 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152080415 152080415 + Missense_Mutation SNP C C T rs71585886 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:152080415C>T ENST00000368804.1 - 2 5277 c.5278G>A c.(5278-5280)Gaa>Aaa p.E1760K NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1760 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCTGTTCTTCCCTTTCCGGA 0.602000 25 45 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50769008 50769008 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:50769008C>T ENST00000216923.4 - 6 2072 c.1723G>A c.(1723-1725)Gag>Aag p.E575K ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.E521K|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.E573K NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 575 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 TCCGTCTGCTCGTGGGTGGTC 0.652000 13 13 0 0 1 0 0 BMP8A 353500 broad.mit.edu 37 1 39957963 39957963 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:39957963C>T ENST00000331593.5 + 1 646 c.300C>T c.(298-300)ggC>ggT p.G100G NM_181809.3 NP_861525.2 Q7Z5Y6 BMP8A_HUMAN bone morphogenetic protein 8a 100 cartilage development|cell differentiation|growth|ossification extracellular space cytokine activity|growth factor activity kidney(1)|large_intestine(2)|lung(1)|skin(1) 5 Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGCGCCTGGGCCGCGCCGACC 0.741000 11 2 0 0 1 0 0 SGSM1 129049 broad.mit.edu 37 22 25270478 25270478 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr22:25270478G>A ENST00000400359.4 + 13 1395 c.1388G>A c.(1387-1389)gGg>gAg p.G463E SGSM1_ENST00000400358.4_Intron NM_001039948.2|NM_133454.2 NP_001035037.1|NP_597711.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 463 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 GTGGCCAGAGGGAGTCAGTGG 0.652000 5 19 0 0 1 0 0 IFNA7 3444 broad.mit.edu 37 9 21201924 21201924 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:21201924G>A ENST00000239347.3 - 1 280 c.241C>T c.(241-243)Cat>Tat p.H81Y NM_021057.2 NP_066401.2 P01567 IFNA7_HUMAN interferon, alpha 7 81 blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6) 12 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) ATCATCTCATGGAGGACAGAG 0.478000 27 15 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 73012741 73012741 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:73012741C>T ENST00000261180.4 + 13 2353 c.2257C>T c.(2257-2259)Cct>Tct p.P753S NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 753 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 GGATTTTCTTCCTTGGCATGC 0.363000 17 40 0 0 1 0 0 TFR2 7036 broad.mit.edu 37 7 100238722 100238722 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:100238722C>T ENST00000462107.1 - 3 450 c.163G>A c.(163-165)Gag>Aag p.E55K TFR2_ENST00000223051.3_Missense_Mutation_p.E55K|TFR2_ENST00000431692.1_Missense_Mutation_p.E55K Q9UP52 TFR2_HUMAN transferrin receptor 2 55 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CCCCTCAGCTCCATGGGGCAG 0.677000 5 11 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21011501 21011501 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:21011501G>A ENST00000381545.3 + 5 574 c.355G>A c.(355-357)Gga>Aga p.G119R SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G119R|SLCO1B3_ENST00000545880.1_3'UTR|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G119R|LST3_ENST00000540229.1_Missense_Mutation_p.G119R|LST3_ENST00000381541.3_Missense_Mutation_p.G119R|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G119R NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 119 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TTTCTTCATGGGATAGTAAGT 0.338000 11 30 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86702227 86702227 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:86702227C>T ENST00000441037.2 + 4 415 c.320C>T c.(319-321)cCt>cTt p.P107L AGBL1_ENST00000421325.2_Missense_Mutation_p.P107L NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 107 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GTTATTACTCCTTACACCCGA 0.448000 17 52 0 0 1 0 0 KRT18P55 284085 broad.mit.edu 37 17 26603664 26603664 + RNA SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:26603664C>T ENST00000577198.1 - 0 1297 NR_028334.1 GCATCTACCTCCACAGTCAAC 0.507000 9 4 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9048867 9048867 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:9048867G>A ENST00000397910.4 - 5 32967 c.32764C>T c.(32764-32766)Cca>Tca p.P10922S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10924 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 GTTGGAGTTGGAATAGCAGAA 0.473000 59 76 0 0 1 0 0 PLK3 1263 broad.mit.edu 37 1 45268772 45268772 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:45268772C>T ENST00000372201.4 + 7 1134 c.895C>T c.(895-897)Ccc>Tcc p.P299S PLK3_ENST00000465443.1_3'UTR NM_004073.2 NP_004064.2 Q9H4B4 PLK3_HUMAN polo-like kinase 3 299 Protein kinase. membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) TCGGGCCTCACCCCGAGACCG 0.607000 18 45 0 0 1 0 0 C4orf17 84103 broad.mit.edu 37 4 100463150 100463150 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:100463150C>T ENST00000326581.4 + 9 1326 c.964C>T c.(964-966)Cct>Tct p.P322S NM_032149.2 NP_115525.2 Q53FE4 CD017_HUMAN chromosome 4 open reading frame 17 322 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) ACCAAATTCTCCTCCCAGGCC 0.408000 10 16 0 0 1 0 0 STOX2 56977 broad.mit.edu 37 4 184930856 184930856 + Nonsense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:184930856C>T ENST00000308497.4 + 3 2300 c.865C>T c.(865-867)Cag>Tag p.Q289* STOX2_ENST00000438269.1_Nonsense_Mutation_p.Q289* NM_020225.1 NP_064610.1 Q9P2F5 STOX2_HUMAN storkhead box 2 289 embryo development|maternal placenta development breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) TTTTTCTGCCCAGTTTCCTCC 0.458000 7 2 0 0 1 0 0 TSC22D4 81628 broad.mit.edu 37 7 100075280 100075280 + Silent SNP A A G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:100075280A>G ENST00000300181.2 - 2 1136 c.382T>C c.(382-384)Ttg>Ctg p.L128L TSC22D4_ENST00000393991.1_Intron NM_030935.3 NP_112197.1 Q9Y3Q8 T22D4_HUMAN TSC22 domain family, member 4 128 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCCAGCTCCAACCTGGAATCC 0.692000 6 6 0 0 1 0 0 AIFM3 150209 broad.mit.edu 37 22 21328382 21328382 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr22:21328382C>T ENST00000399167.2 + 5 626 c.386C>T c.(385-387)cCc>cTc p.P129L AIFM3_ENST00000335375.5_Missense_Mutation_p.P117L|AIFM3_ENST00000405089.1_Missense_Mutation_p.P135L|AIFM3_ENST00000440238.2_Missense_Mutation_p.P129L|AIFM3_ENST00000399163.2_Missense_Mutation_p.P129L|AIFM3_ENST00000333607.6_Missense_Mutation_p.P129L NM_144704.2 NP_653305.1 apoptosis-inducing factor, mitochondrion-associated, 3 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GTGCGCTGCCCCTGGCACGGC 0.657000 5 6 0 0 1 0 0 SLC9B1 150159 broad.mit.edu 37 4 103822383 103822383 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:103822383G>A ENST00000296422.7 - 12 1580 c.1439C>T c.(1438-1440)aCa>aTa p.T480I SLC9B1_ENST00000512651.2_5'UTR|SLC9B1_ENST00000394789.3_Intron NM_139173.3 NP_631912.2 Q4ZJI4 NHDC1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 480 integral to membrane solute:hydrogen antiporter activity ATTTGGAGCTGTGATCAAGAT 0.443000 16 144 0 0 1 0 0 CTSE 1510 broad.mit.edu 37 1 206328788 206328788 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:206328788C>T ENST00000361052.3 + 7 988 c.870C>T c.(868-870)tcC>tcT p.S290S CTSE_ENST00000358184.2_Silent_p.S285S|CTSE_ENST00000432969.2_Intron|CTSE_ENST00000360218.2_Intron P14091 CATE_HUMAN cathepsin E 290 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3) 16 BRCA - Breast invasive adenocarcinoma(75;0.0754) CAGGGACTTCCCTCATCACTG 0.612000 13 30 0 0 1 0 0 HRH1 3269 broad.mit.edu 37 3 11300948 11300948 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:11300948C>T ENST00000397056.1 + 3 416 c.225C>T c.(223-225)atC>atT p.I75I HRH1_ENST00000438284.2_Silent_p.I75I|HRH1_ENST00000431010.2_Silent_p.I75I NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 75 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) CGGACTTGATCGTGGGTGCCG 0.572000 37 37 0 0 1 0 0 G6PC2 57818 broad.mit.edu 37 2 169764443 169764443 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:169764443C>T ENST00000375363.3 + 5 1014 c.922C>T c.(922-924)Cat>Tat p.H308Y SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000461586.1_3'UTR NM_021176.2 NP_066999.1 Q9NQR9 G6PC2_HUMAN glucose-6-phosphatase, catalytic, 2 308 gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 13 GCAGCTCTACCATTTCCTCCA 0.468000 44 48 0 0 1 0 0 CRLF3 51379 broad.mit.edu 37 17 29119578 29119578 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:29119578C>T ENST00000324238.6 - 6 963 c.839G>A c.(838-840)gGt>gAt p.G280D CRLF3_ENST00000544695.1_Missense_Mutation_p.G164D|CRLF3_ENST00000577725.1_Intron|CTD-2349P21.9_ENST00000580085.1_lincRNA NM_015986.3 NP_057070.3 Q8IUI8 CRLF3_HUMAN cytokine receptor-like factor 3 280 negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter cytoplasm endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 17 all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255) CCCCTCAAAACCAGCTGTCCA 0.403000 26 18 0 0 1 0 0 SLC23A1 9963 broad.mit.edu 37 5 138715763 138715763 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:138715763G>A ENST00000353963.3 - 7 700 c.662C>T c.(661-663)tCc>tTc p.S221F SLC23A1_ENST00000348729.3_Missense_Mutation_p.S217F NM_152685.3 NP_689898.2 Q9UHI7 S23A1_HUMAN solute carrier family 23 (ascorbic acid transporter), member 1 217 brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) CAGGAGAATGGAGCTGGGGGC 0.622000 5 4 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100108571 100108571 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:100108571C>T ENST00000395996.1 + 4 434 c.323C>T c.(322-324)aCc>aTc p.T108I VPS13B_ENST00000355155.1_Missense_Mutation_p.T108I|VPS13B_ENST00000441350.2_Missense_Mutation_p.T108I|VPS13B_ENST00000357162.2_Missense_Mutation_p.T108I|VPS13B_ENST00000358544.2_Missense_Mutation_p.T108I Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 108 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TCTAATTCTACCAACCGTAGT 0.368000 11 58 0 0 1 0 0 AMBRA1 55626 broad.mit.edu 37 11 46563868 46563868 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:46563868G>A ENST00000458649.2 - 7 2117 c.1699C>T c.(1699-1701)Cgc>Tgc p.R567C AMBRA1_ENST00000314845.3_Missense_Mutation_p.R477C|AMBRA1_ENST00000298834.3_Missense_Mutation_p.R567C|AMBRA1_ENST00000426438.1_Missense_Mutation_p.R567C|AMBRA1_ENST00000534300.1_Missense_Mutation_p.R567C|AMBRA1_ENST00000533727.1_Missense_Mutation_p.R477C|AMBRA1_ENST00000528950.1_Missense_Mutation_p.R567C Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 567 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) GCACGACAGCGATTCAGGTGG 0.552000 22 48 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81744241 81744241 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:81744241G>A ENST00000555447.1 - 6 1826 c.1414C>T c.(1414-1416)Cgt>Tgt p.R472C STON2_ENST00000267540.2_Missense_Mutation_p.R472C NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 472 SHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding p.R472S(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) TTGAACTCACGGAATGGTTTT 0.488000 56 73 0 0 1 0 0 PLAG1 5324 broad.mit.edu 37 8 57079568 57079568 + Missense_Mutation SNP T T C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:57079568T>C ENST00000316981.3 - 5 1216 c.737A>G c.(736-738)gAa>gGa p.E246G PLAG1_ENST00000429357.2_Missense_Mutation_p.E246G|PLAG1_ENST00000423799.2_Missense_Mutation_p.E164G NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 246 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) ATCCACTGGTTCTGTTTTGAC 0.448000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 29 90 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124297720 124297720 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:124297720C>T ENST00000409039.3 + 19 2825 c.2800C>T c.(2800-2802)Cgt>Tgt p.R934C NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 934 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GCATTTTGTTCGTTGGATGAA 0.378000 8 20 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541054 55541054 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:55541054G>A ENST00000361760.1 + 1 141 c.141G>A c.(139-141)atG>atA p.M47I NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) ACTTGGGCATGATAATAATCA 0.393000 34 48 0 0 1 0 0 TCTN2 79867 broad.mit.edu 37 12 124163787 124163787 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:124163787C>T ENST00000303372.5 + 5 643 c.515C>T c.(514-516)cCt>cTt p.P172L TCTN2_ENST00000426174.2_Missense_Mutation_p.P171L NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 172 Cys-rich. cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) GGCCCTTGTCCTTGTAATTTA 0.448000 26 41 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848172 73848172 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:73848172C>T ENST00000523207.1 + 3 1170 c.582C>T c.(580-582)atC>atT p.I194I NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 194 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TTTTCCAGATCCTGGCCATCG 0.463000 45 118 0 0 1 0 0 SLC22A13 9390 broad.mit.edu 37 3 38307716 38307716 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:38307716C>T ENST00000311856.4 + 1 414 c.365C>T c.(364-366)tCc>tTc p.S122F SLC22A13_ENST00000450935.2_Missense_Mutation_p.S81F NM_004256.3 NP_004247.2 Q9Y226 S22AD_HUMAN solute carrier family 22 (organic anion/urate transporter), member 13 122 integral to plasma membrane organic cation transmembrane transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) AGGCTCCCATCCCTGAAGAAT 0.577000 12 21 0 0 1 0 0 CHRDL2 25884 broad.mit.edu 37 11 74414511 74414511 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:74414511C>T ENST00000376332.3 - 8 1281 c.785G>A c.(784-786)gGg>gAg p.G262E CHRDL2_ENST00000263671.5_Missense_Mutation_p.G262E|CHRDL2_ENST00000534159.1_5'UTR NM_001278473.1 NP_001265402.1 Q6WN34 CRDL2_HUMAN chordin-like 2 262 VWFC 3. cartilage development|cell differentiation|ossification extracellular region|mitochondrion endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2) 15 Hepatocellular(1;0.098) CCACACCTCCCCGTGGGAGTA 0.652000 6 10 0 0 1 0 0 MIDN 90007 broad.mit.edu 37 19 1255597 1255597 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:1255597C>T ENST00000300952.2 + 7 1548 c.1033C>T c.(1033-1035)Ctg>Ttg p.L345L MIDN_ENST00000591446.2_Silent_p.L345L NM_177401.4 NP_796375.3 Q504T8 MIDN_HUMAN midnolin 345 nucleolus NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCCCCCGACCTGGCCCCCAG 0.721000 19 14 0 0 1 0 0 CLCA1 1179 broad.mit.edu 37 1 86959080 86959080 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:86959080G>A ENST00000234701.3 + 11 1829 c.1478G>A c.(1477-1479)gGa>gAa p.G493E CLCA1_ENST00000394711.1_Missense_Mutation_p.G493E A8K7I4 CLCA1_HUMAN chloride channel accessory 1 493 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) GAGAGTAAGGGATTAACCCTC 0.493000 18 8 0 0 1 0 0 SLC2A9 56606 broad.mit.edu 37 4 9943652 9943652 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:9943652G>A ENST00000506583.1 - 8 829 c.612C>T c.(610-612)taC>taT p.Y204Y SLC2A9_ENST00000309065.3_Silent_p.Y204Y|SLC2A9_ENST00000264784.3_Silent_p.Y233Y Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 233 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 CTCCAAACAGGTATGGCCAGG 0.582000 6 14 0 0 1 0 0 LAMC2 3918 broad.mit.edu 37 1 183205733 183205733 + Silent SNP C C G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:183205733C>G ENST00000264144.4 + 17 2660 c.2595C>G c.(2593-2595)tcC>tcG p.S865S LAMC2_ENST00000493293.1_Silent_p.S865S NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 865 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 GTGATCAGTCCTTTCAGGTGA 0.488000 16 33 0 0 1 0 0 SYT12 91683 broad.mit.edu 37 11 66807423 66807423 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:66807423C>T ENST00000393946.2 + 7 1532 c.370C>T c.(370-372)Ccc>Tcc p.P124S SYT12_ENST00000525457.1_Missense_Mutation_p.P124S|SYT12_ENST00000527043.1_Missense_Mutation_p.P124S|SYT12_ENST00000526281.1_3'UTR Q8IV01 SYT12_HUMAN synaptotagmin XII 124 cell junction|integral to membrane|synaptic vesicle membrane NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 20 GGACCTGGCCCCCTATGGGAC 0.617000 21 46 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3238619 3238619 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:3238619C>T ENST00000217939.6 - 5 5261 c.5107G>A c.(5107-5109)Gga>Aga p.G1703R NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1703 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TTGTTATTTCCAAACACTTTG 0.428000 30 44 0 0 1 0 0 CTR9 9646 broad.mit.edu 37 11 10789453 10789453 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:10789453C>T ENST00000361367.2 + 14 2213 c.1787C>T c.(1786-1788)tCc>tTc p.S596F NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 596 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) AAACAGCCATCCACACAGAGT 0.443000 71 103 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10363572 10363572 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:10363572G>A ENST00000255381.2 - 13 1324 c.1214C>T c.(1213-1215)cCc>cTc p.P405L CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 405 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CTTGACTCTGGGATAGCAGAG 0.453000 16 28 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34015840 34015840 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:34015840C>T ENST00000373381.4 - 56 9030 c.8854G>A c.(8854-8856)Gga>Aga p.G2952R NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2928 Sushi 22. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTGCTGTTTCCCACCAGAGTA 0.597000 24 42 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303797 151303797 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:151303797G>A ENST00000370323.4 - 4 612 c.296C>T c.(295-297)tCc>tTc p.S99F MAGEA10_ENST00000244096.3_Missense_Mutation_p.S99F|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 99 endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) TAATGGAAGGGAAGCAACGAC 0.537000 73 25 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113424859 113424859 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:113424859G>A ENST00000392583.2 + 2 401 c.194G>A c.(193-195)cGg>cAg p.R65Q RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000449768.2_Missense_Mutation_p.R65Q|OAS2_ENST00000342315.4_Missense_Mutation_p.R65Q NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 65 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 TCCTATGGACGGAAAACAGTC 0.473000 26 48 0 0 1 0 0 SHISA2 387914 broad.mit.edu 37 13 26621094 26621094 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr13:26621094G>A ENST00000319420.3 - 2 500 c.445C>T c.(445-447)Ccc>Tcc p.P149S NM_001007538.1 NP_001007539.1 Q6UWI4 SHSA2_HUMAN shisa family member 2 149 multicellular organismal development endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 17 CTCTGCTGGGGATCCTGCTTA 0.627000 55 10 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3238685 3238685 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:3238685G>A ENST00000217939.6 - 5 5195 c.5041C>T c.(5041-5043)Ccc>Tcc p.P1681S NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1681 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGAATGCTGGGTTTGGACATG 0.413000 45 82 0 0 1 0 0 GMPPA 29926 broad.mit.edu 37 2 220366636 220366636 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:220366636C>T ENST00000358215.3 + 5 675 c.306C>T c.(304-306)atC>atT p.I102I GMPPA_ENST00000313597.5_Silent_p.I102I|GMPPA_ENST00000373908.1_Silent_p.I102I|GMPPA_ENST00000341142.3_Silent_p.I102I|GMPPA_ENST00000373917.3_Silent_p.I102I|AC053503.11_ENST00000429882.1_RNA NM_205847.2 NP_995319.1 Q96IJ6 GMPPA_HUMAN GDP-mannose pyrophosphorylase A 102 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 Renal(207;0.0183) Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148) GAGACCAGATCCTGGCTGGGA 0.597000 34 56 0 0 1 0 0 GPER1 2852 broad.mit.edu 37 7 1132424 1132424 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:1132424G>A ENST00000397092.1 + 3 1944 c.1060G>A c.(1060-1062)Gct>Act p.A354T C7orf50_ENST00000357429.6_Intron|GPER_ENST00000397088.3_Missense_Mutation_p.A354T|GPER_ENST00000297469.3_Missense_Mutation_p.A354T|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000397100.2_Intron|GPER_ENST00000401670.1_Missense_Mutation_p.A354T NM_001039966.1 NP_001035055.1 Q99527 GPER_HUMAN 354 endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 13 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16) CTTCTGTCACGCTGCCCTGAA 0.587000 3 18 0 0 1 0 0 BMP10 27302 broad.mit.edu 37 2 69093276 69093276 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:69093276G>A ENST00000295379.1 - 2 920 c.762C>T c.(760-762)atC>atT p.I254I NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 254 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 CAGAAAACACGATGAGCAAAG 0.483000 11 11 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99772544 99772544 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:99772544C>T ENST00000370185.3 + 7 2767 c.2270C>T c.(2269-2271)cCc>cTc p.P757L LPPR4_ENST00000370184.1_Missense_Mutation_p.P599L|LPPR4_ENST00000457765.1_Missense_Mutation_p.P699L NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 757 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) GGAACCTCCCCCACACGGGCT 0.463000 25 47 0 0 1 0 0 SLC17A6 57084 broad.mit.edu 37 11 22398996 22398996 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:22398996C>T ENST00000263160.3 + 12 1896 c.1459C>T c.(1459-1461)Cac>Tac p.H487Y NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 487 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 TGCCCTAGTCCACTATGGTGG 0.453000 12 13 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96030984 96030984 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:96030984C>T ENST00000297954.4 + 18 3989 c.3989C>T c.(3988-3990)tCg>tTg p.S1330L WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.S1330L|WNK2_ENST00000427277.2_Missense_Mutation_p.S942L|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.S942L Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1330 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity p.S1316L(1)|p.S1330L(1) breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CCTGAATCTTCGCCCCCACTT 0.617000 13 4 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57334182 57334182 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:57334182C>T ENST00000326441.9 - 6 867 c.504G>A c.(502-504)agG>agA p.R168R ZIM2_ENST00000593711.1_Silent_p.R43R|PEG3_ENST00000593695.1_Silent_p.R42R|PEG3_ENST00000423103.2_Silent_p.R168R|ZIM2_ENST00000391708.3_Silent_p.R43R|PEG3_ENST00000598410.1_Silent_p.R43R|ZIM2_ENST00000593931.1_Silent_p.R43R|ZIM2_ENST00000601070.1_Silent_p.R43R|ZIM2_ENST00000221722.5_Silent_p.R43R|ZIM2_ENST00000599935.1_Silent_p.R43R NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 168 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TGCTTCTGCCCCTCCGGTCCC 0.532000 10 10 0 0 1 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24256516 24256516 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:24256516C>T ENST00000538205.1 + 10 1202 c.655C>T c.(655-657)Ctg>Ttg p.L219L RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.L298L|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.L219L NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 298 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) CAGTTCTAACCTGGGGAAAAA 0.512000 7 16 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42694391 42694391 + Missense_Mutation SNP A A G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:42694391A>G ENST00000358131.5 + 6 1154 c.946A>G c.(946-948)Aac>Gac p.N316D TOX2_ENST00000423191.1_Missense_Mutation_p.N292D|TOX2_ENST00000341197.3_Missense_Mutation_p.N334D|TOX2_ENST00000372999.1_Missense_Mutation_p.N292D|TOX2_ENST00000435864.2_Missense_Mutation_p.N212D NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 316 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) CACTCAGGCAAACCCACCAGC 0.587000 53 104 0 0 1 0 0 CASS4 57091 broad.mit.edu 37 20 55012289 55012289 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:55012289G>A ENST00000371336.3 + 2 307 c.106G>A c.(106-108)Gac>Aac p.D36N CASS4_ENST00000434344.1_Missense_Mutation_p.D36N|CASS4_ENST00000360314.3_Missense_Mutation_p.D36N NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 36 SH3. cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CAGCAGAGGGGACATCCTGAC 0.592000 20 41 0 0 1 0 0 COL6A1 1291 broad.mit.edu 37 21 47414119 47414119 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr21:47414119C>T ENST00000361866.3 + 20 1488 c.1374C>T c.(1372-1374)ggC>ggT p.G458G NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 458 Triple-helical region. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) GAAGAGAAGGCCCCGTTGGTG 0.637000 3 11 0 0 1 0 0 PAH 5053 broad.mit.edu 37 12 103249033 103249033 + Missense_Mutation SNP G G A rs62895363 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:103249033G>A ENST00000553106.1 - 6 1059 c.587C>T c.(586-588)tCc>tTc p.S196F PAH_ENST00000307000.2_Missense_Mutation_p.S191F NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 196 catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) TTTATACAAGGACTTCAGAGT 0.438000 11 8 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751599 19751599 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr13:19751599G>A ENST00000400113.3 - 4 628 c.524C>T c.(523-525)cCc>cTc p.P175L NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 175 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GGAGACCTGGGGGGCTGGGTA 0.582000 305 23 0 0 1 0 0 PAPLN 89932 broad.mit.edu 37 14 73726011 73726011 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:73726011C>T ENST00000427855.1 + 16 1845 c.1743C>T c.(1741-1743)caC>caT p.H581H PAPLN_ENST00000554301.1_Silent_p.H581H|PAPLN_ENST00000555445.1_Silent_p.H581H|PAPLN_ENST00000381166.3_Silent_p.H581H|PAPLN_ENST00000340738.5_Silent_p.H554H O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 581 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CCCAGGAACACCCCTCAGCCA 0.657000 18 47 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23928772 23928772 + Missense_Mutation SNP T T C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr13:23928772T>C ENST00000382298.3 - 8 2567 c.1979A>G c.(1978-1980)tAc>tGc p.Y660C SACS_ENST00000382292.3_Missense_Mutation_p.Y660C|SACS_ENST00000402364.1_5'UTR|SACS_ENST00000476776.1_5'UTR NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 660 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CAGCTCACTGTAGGCTTGGTC 0.507000 73 10 0 0 1 0 0 PRRC2B 84726 broad.mit.edu 37 9 134340309 134340309 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:134340309C>T ENST00000357304.4 + 11 1619 c.1564C>T c.(1564-1566)Ctg>Ttg p.L522L PRRC2B_ENST00000405995.1_Silent_p.L522L|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Silent_p.L522L NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 522 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 GGAGGAGAGGCTGGCCGCCTG 0.632000 12 4 0 0 1 0 0 PAPD7 11044 broad.mit.edu 37 5 6748684 6748684 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:6748684C>T ENST00000230859.6 + 8 946 c.817C>T c.(817-819)Cca>Tca p.P273S NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 273 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CAGGTCCTATCCAAACAGAGA 0.552000 34 93 0 0 1 0 0 EED 8726 broad.mit.edu 37 11 85975253 85975253 + Missense_Mutation SNP T T C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:85975253T>C ENST00000263360.6 + 7 1360 c.674T>C c.(673-675)cTg>cCg p.L225P EED_ENST00000351625.6_Missense_Mutation_p.L225P|EED_ENST00000327320.4_Missense_Mutation_p.L225P|EED_ENST00000528180.1_Missense_Mutation_p.L225P NM_003797.3 NP_003788.2 O75530 EED_HUMAN embryonic ectoderm development 225 Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 21 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) ACGGACACTCTGGTGGCAATA 0.388000 30 41 0 0 1 0 0 ASZ1 136991 broad.mit.edu 37 7 117007411 117007411 + Nonsense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:117007411G>A ENST00000284629.2 - 12 1332 c.1270C>T c.(1270-1272)Caa>Taa p.Q424* NM_130768.2 NP_570124.1 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper domain containing 1 424 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) TATACCTTTTGAATTAGGTCT 0.343000 8 7 0 0 1 0 0 ZNF25 219749 broad.mit.edu 37 10 38241235 38241235 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:38241235G>A ENST00000302609.7 - 6 1403 c.1191C>T c.(1189-1191)ccC>ccT p.P397P ZNF25_ENST00000374633.1_5'UTR NM_145011.2 NP_659448.1 P17030 ZNF25_HUMAN zinc finger protein 25 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) TGCATGCATAGGGCTTCTCTC 0.443000 16 36 0 0 1 0 0 OR2T33 391195 broad.mit.edu 37 1 248436155 248436155 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:248436155C>T ENST00000318021.2 - 1 983 c.962G>A c.(961-963)tGa>tAa p.*321* NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GACATTAGATCATCTTGACCT 0.388000 34 64 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168175342 168175342 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:168175342G>A ENST00000519560.1 - 20 2654 c.2235C>T c.(2233-2235)gcC>gcT p.A745A SLIT3_ENST00000404867.3_Silent_p.A745A|SLIT3_ENST00000332966.8_Silent_p.A745A NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 745 LRRNT 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTCTGGGGAGGGCGCGGAGCC 0.622000 31 47 0 0 1 0 0 BCAS1 8537 broad.mit.edu 37 20 52569975 52569975 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:52569975C>T ENST00000395961.3 - 11 1842 c.1676G>A c.(1675-1677)gGc>gAc p.G559D BCAS1_ENST00000434986.2_Missense_Mutation_p.G225D|BCAS1_ENST00000371435.2_Missense_Mutation_p.G481D|BCAS1_ENST00000371440.3_Missense_Mutation_p.G568D NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 559 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) ACCTACCAGGCCTTTAAAGAA 0.517000 11 24 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57334181 57334181 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:57334181C>T ENST00000326441.9 - 6 868 c.505G>A c.(505-507)Ggc>Agc p.G169S ZIM2_ENST00000593711.1_Missense_Mutation_p.G44S|PEG3_ENST00000593695.1_Missense_Mutation_p.G43S|PEG3_ENST00000423103.2_Missense_Mutation_p.G169S|ZIM2_ENST00000391708.3_Missense_Mutation_p.G44S|PEG3_ENST00000598410.1_Missense_Mutation_p.G44S|ZIM2_ENST00000593931.1_Missense_Mutation_p.G44S|ZIM2_ENST00000601070.1_Missense_Mutation_p.G44S|ZIM2_ENST00000221722.5_Missense_Mutation_p.G44S|ZIM2_ENST00000599935.1_Missense_Mutation_p.G44S NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 169 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTGCTTCTGCCCCTCCGGTCC 0.532000 10 9 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141607853 141607853 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:141607853C>T ENST00000389484.3 - 29 5728 c.4757G>A c.(4756-4758)gGa>gAa p.G1586E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1586 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AATATCCACTCCTCTGATTTC 0.348000 TSP Lung(27;0.18) 8 22 0 0 1 0 0 GAB1 2549 broad.mit.edu 37 4 144361025 144361025 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:144361025C>T ENST00000262995.4 + 5 1693 c.1266C>T c.(1264-1266)ggC>ggT p.G422G GAB1_ENST00000505913.1_Silent_p.G319G|GAB1_ENST00000262994.4_Silent_p.G422G NM_207123.2 NP_997006.1 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 422 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 30 all_hematologic(180;0.158) CACTTGAAGGCTTCCATAACC 0.333000 8 17 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176638665 176638665 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:176638665G>A ENST00000439151.2 + 5 3310 c.3265G>A c.(3265-3267)Gat>Aat p.D1089N NSD1_ENST00000347982.4_Missense_Mutation_p.D820N|NSD1_ENST00000361032.4_Missense_Mutation_p.D986N|NSD1_ENST00000354179.4_Missense_Mutation_p.D820N NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1089 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TAGTAAAGAGGATCCCCTTCA 0.453000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 24 35 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197073649 197073649 + Nonsense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:197073649G>A ENST00000367409.4 - 18 4988 c.4732C>T c.(4732-4734)Cga>Tga p.R1578* ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1578 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TTTAAAAATCGAACTCTGTCT 0.338000 20 28 0 0 1 0 0 PSD2 84249 broad.mit.edu 37 5 139193941 139193941 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:139193941G>A ENST00000274710.3 + 4 1213 c.1008G>A c.(1006-1008)ctG>ctA p.L336L NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 336 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCGGCAGCTGGGCAAGAAGT 0.637000 6 22 0 0 1 0 0 TXNL4A 10907 broad.mit.edu 37 18 77733800 77733800 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr18:77733800G>A ENST00000269601.5 - 3 514 c.314C>T c.(313-315)gCc>gTc p.A105V TXNL4A_ENST00000588162.1_3'UTR|TXNL4A_ENST00000592957.1_Missense_Mutation_p.A34V|TXNL4A_ENST00000592837.1_Missense_Mutation_p.A34V|TXNL4A_ENST00000585474.1_Missense_Mutation_p.A34V NM_006701.2 NP_006692.1 P83876 TXN4A_HUMAN thioredoxin-like 4A 105 cell division|mitosis|spliceosome assembly nucleoplasm|spliceosomal complex protein binding breast(1)|large_intestine(1)|lung(3) 5 all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249) GTCCTCCATGGCCCAGTTAAT 0.547000 33 55 0 0 1 0 0 NPHP3 27031 broad.mit.edu 37 3 132441115 132441115 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:132441115C>T ENST00000326682.8 - 1 161 c.85G>A c.(85-87)Gag>Aag p.E29K NPHP3_ENST00000343113.4_Missense_Mutation_p.E29K|NPHP3_ENST00000337331.5_Missense_Mutation_p.E29K|NPHP3-AS1_ENST00000489343.1_RNA|NPHP3_ENST00000383282.2_Missense_Mutation_p.E29K Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 29 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACCGGGATCTCGCAGGCCTCG 0.771000 6 13 0 0 1 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42374026 42374026 + Missense_Mutation SNP C C T rs150830051 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:42374026C>T ENST00000290472.3 - 10 884 c.790G>A c.(790-792)Gga>Aga p.G264R NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 264 phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) AGCCTCACTCCTGGGGCCTGA 0.577000 81 46 0 0 1 0 0 C9 735 broad.mit.edu 37 5 39342232 39342232 + Nonsense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:39342232C>T ENST00000263408.4 - 2 239 c.144G>A c.(142-144)tgG>tgA p.W48* C9_ENST00000509186.1_5'UTR NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 48 TSP type-1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) ACCATTCACTCCAGGGGCTCA 0.463000 13 25 0 0 1 0 0 WFDC5 149708 broad.mit.edu 37 20 43743701 43743701 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:43743701G>A ENST00000307971.4 - 1 102 c.24C>T c.(22-24)ctC>ctT p.L8L WFDC5_ENST00000372789.4_Silent_p.L8L Q8TCV5 WFDC5_HUMAN WAP four-disulfide core domain 5 8 extracellular region serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) GGGCCCCCAGGAGGAGAAGGC 0.617000 9 20 0 0 1 0 0 UQCRFS1 7386 broad.mit.edu 37 19 29699024 29699024 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:29699024G>A ENST00000304863.4 - 2 678 c.256C>T c.(256-258)Cct>Tct p.P86S NM_006003.2 NP_005994.2 P47985 UCRI_HUMAN ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 86 respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex III 2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Breast(6;0.0545)|Esophageal squamous(110;0.239) Lung(7;0.092) GAGAAGTCAGGCACCTTGATG 0.433000 13 38 0 0 1 0 0 PPP1R10 5514 broad.mit.edu 37 6 30571389 30571389 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:30571389C>T ENST00000376511.2 - 16 2179 c.1627G>A c.(1627-1629)Ggt>Agt p.G543S NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 543 Gly-rich.|Interaction with WDR82 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 GGTGAGCCACCTGACCCCCCA 0.532000 39 70 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41577266 41577266 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:41577266G>A ENST00000396942.1 - 10 1103 c.1020C>T c.(1018-1020)acC>acT p.T340T ANK1_ENST00000379758.2_Silent_p.T340T|ANK1_ENST00000347528.4_Silent_p.T340T|ANK1_ENST00000352337.4_Silent_p.T340T|ANK1_ENST00000265709.8_Silent_p.T373T|ANK1_ENST00000289734.7_Silent_p.T340T|ANK1_ENST00000396945.1_Silent_p.T340T P16157 ANK1_HUMAN ankyrin 1, erythrocytic 340 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CGTGGAGTGGGGTCAGGTGGT 0.607000 54 73 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197071568 197071568 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:197071568C>T ENST00000367409.4 - 18 7069 c.6813G>A c.(6811-6813)agG>agA p.R2271R ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2271 IQ 21. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TTCTAAATCTCCTCTGAATGA 0.358000 26 51 0 0 1 0 0 SPRR1A 6698 broad.mit.edu 37 1 152957798 152957798 + Missense_Mutation SNP A A G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:152957798A>G ENST00000307122.2 + 2 156 c.92A>G c.(91-93)gAa>gGa p.E31G SPRR1A_ENST00000368762.1_Missense_Mutation_p.E31G NM_001199828.1|NM_005987.3 NP_001186757.1|NP_005978.2 P35321 SPR1A_HUMAN small proline-rich protein 1A 31 6 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1) 7 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCACCCCAGGAACCATGCATC 0.612000 44 60 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4920518 4920518 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:4920518C>T ENST00000433855.1 + 1 2177 c.1311C>T c.(1309-1311)atC>atT p.I437I KCNA6_ENST00000280684.3_Silent_p.I437I NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 437 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 GGGGAAAGATCGTGGGCTCGC 0.592000 HNSCC(72;0.22) 22 34 0 0 1 0 0 P2RX5-TAX1BP3 100533970 broad.mit.edu 37 17 3592832 3592832 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:3592832G>A ENST00000550383.1 - 7 895 c.707C>T c.(706-708)tCc>tTc p.S236F P2RX5_ENST00000345901.3_Missense_Mutation_p.S212F|P2RX5_ENST00000435558.1_Missense_Mutation_p.S236F|P2RX5_ENST00000225328.5_Missense_Mutation_p.S236F|P2RX5_ENST00000547178.1_Missense_Mutation_p.S235F|P2RX5_ENST00000552050.1_Missense_Mutation_p.S176F|P2RX5_ENST00000552276.1_Missense_Mutation_p.S235F|P2RX5_ENST00000550772.1_Intron|P2RX5_ENST00000551178.1_Missense_Mutation_p.S211F GCGGATCACGGAGCCCAGTCG 0.622000 33 42 0 0 1 0 0 SP4 6671 broad.mit.edu 37 7 21521639 21521639 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:21521639C>T ENST00000222584.3 + 5 2223 c.2005C>T c.(2005-2007)Cgc>Tgc p.R669C NM_003112.3 NP_003103.2 Q02446 SP4_HUMAN Sp4 transcription factor 669 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 35 AGCACATCTTCGCTGGCATAC 0.408000 22 27 0 0 1 0 0 ANKRD50 57182 broad.mit.edu 37 4 125592806 125592806 + Missense_Mutation SNP A A C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:125592806A>C ENST00000504087.1 - 4 2663 c.1626T>G c.(1624-1626)gaT>gaG p.D542E ANKRD50_ENST00000515641.1_Missense_Mutation_p.D363E NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 542 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 TCCCATTTGAATCACACTGAT 0.398000 34 40 0 0 1 0 0 MIR520H 574493 broad.mit.edu 37 19 54245767 54245767 + RNA SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:54245767C>T ENST00000385126.1 + 0 2 NR_030215.1 GCAAGAAGATCCCATGCTGTG 0.403000 42 51 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27202972 27202972 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:27202972G>A ENST00000380036.4 + 13 2506 c.2064G>A c.(2062-2064)aaG>aaA p.K688K TEK_ENST00000519097.1_Silent_p.K541K|TEK_ENST00000406359.4_Silent_p.K645K NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 688 Fibronectin type-III 3. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TTGATGTGAAGATAAAGAATG 0.423000 40 24 0 0 1 0 0 SLC35C2 51006 broad.mit.edu 37 20 44986361 44986361 + Missense_Mutation SNP G G C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:44986361G>C ENST00000372227.1 - 3 712 c.172C>G c.(172-174)Ctc>Gtc p.L58V SLC35C2_ENST00000372229.1_Intron|SLC35C2_ENST00000543605.1_Missense_Mutation_p.L87V|SLC35C2_ENST00000243896.2_Missense_Mutation_p.L58V|SLC35C2_ENST00000317734.8_Missense_Mutation_p.L58V|SLC35C2_ENST00000372230.5_Missense_Mutation_p.L58V Q9NQQ7 S35C2_HUMAN solute carrier family 35 (GDP-fucose transporter), member C2 58 transport integral to membrane cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 16 Myeloproliferative disorder(115;0.0122) GCGGAGAAGAGGAAGATCACG 0.617000 19 31 0 0 1 0 0 VNN3 55350 broad.mit.edu 37 6 133048109 133048109 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:133048109C>T ENST00000367927.5 - 4 652 c.580G>A c.(580-582)Gat>Aat p.D194N VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000427187.2_Intron|VNN3_ENST00000414302.2_Silent_p.R129R|VNN3_ENST00000275223.3_Intron|VNN3_ENST00000519686.2_Intron|VNN3_ENST00000392393.3_Intron|VNN3_ENST00000417437.2_Intron|VNN3_ENST00000207771.3_Missense_Mutation_p.D194N|VNN3_ENST00000450865.2_Intron|VNN3_ENST00000509351.1_Intron|VNN3_ENST00000423615.2_Intron vanin 3 cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168) AGTTCTGAATCCTTGGGGAAA 0.363000 8 7 0 0 1 0 0 ZNF774 342132 broad.mit.edu 37 15 90902107 90902107 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:90902107C>T ENST00000354377.3 + 3 315 c.129C>T c.(127-129)tcC>tcT p.S43S ZNF774_ENST00000558115.1_3'UTR|ZNF774_ENST00000379090.5_Silent_p.S43S NM_001004309.2 NP_001004309.2 Q6NX45 ZN774_HUMAN zinc finger protein 774 43 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1) 14 Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331) BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) GTGTAATCTCCCAGCCGGAGC 0.512000 8 16 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62319064 62319064 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:62319064C>T ENST00000318100.4 + 17 2249 c.1422C>T c.(1420-1422)tcC>tcT p.S474S RTEL1_ENST00000360203.5_Silent_p.S474S|RTEL1_ENST00000370018.3_Silent_p.S474S|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.S474S|RTEL1_ENST00000508582.2_Silent_p.S498S Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 474 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) GCGTCCGCTCCCTCATCCTTA 0.687000 4 8 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10432791 10432791 + Missense_Mutation SNP C C A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:10432791C>A ENST00000245503.5 - 25 3509 c.3125G>T c.(3124-3126)gGg>gTg p.G1042V MYH2_ENST00000397183.2_Missense_Mutation_p.G1042V|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1042 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 CTCCAAGGACCCTTCAAGCTA 0.388000 12 28 1.36491e-13 1.39016e-13 1 1 0 TBP 6908 broad.mit.edu 37 6 170871043 170871043 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:170871043G>A ENST00000392092.2 + 3 498 c.219G>A c.(217-219)caG>caA p.Q73Q TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 73 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q73Q(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcaacagcaacagcagc 0.562000 4 44 0 0 1 0 0 LRP5L 91355 broad.mit.edu 37 22 25755923 25755923 + Missense_Mutation SNP C C G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr22:25755923C>G ENST00000444995.3 - 4 837 c.137G>C c.(136-138)cGa>cCa p.R46P LRP5L_ENST00000402859.2_Missense_Mutation_p.R46P|LRP5L_ENST00000402785.2_Missense_Mutation_p.R46P A4QPB2 LRP5L_HUMAN low density lipoprotein receptor-related protein 5-like 46 central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2) 6 ATAGAGGCTTCGGGCCACCCA 0.597000 24 23 0 0 1 0 0 EMILIN2 84034 broad.mit.edu 37 18 2885092 2885092 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr18:2885092C>T ENST00000254528.3 + 3 547 c.388C>T c.(388-390)Cgc>Tgc p.R130C NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 130 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) GAAGACCCTCCGCCCCACGCC 0.517000 11 28 0 0 1 0 0 IRAK2 3656 broad.mit.edu 37 3 10280488 10280488 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:10280488C>T ENST00000256458.4 + 12 1620 c.1530C>T c.(1528-1530)ctC>ctT p.L510L NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 510 activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 AGACGTTGCTCCCTTGGAGTG 0.557000 25 45 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79588668 79588668 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:79588668G>A ENST00000372391.2 - 13 2266 c.2261C>T c.(2260-2262)tCc>tTc p.S754F DLG5_ENST00000372388.2_Missense_Mutation_p.S754F NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 754 PDZ 2. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CACAGCAAGGGACCCTTCTTT 0.567000 14 26 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61568597 61568597 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:61568597G>A ENST00000577647.1 + 8 1090 c.1045G>A c.(1045-1047)Gag>Aag p.E349K ACE_ENST00000413513.3_Missense_Mutation_p.E349K|ACE_ENST00000428043.1_Missense_Mutation_p.E923K|ACE_ENST00000490216.2_Missense_Mutation_p.E349K|ACE_ENST00000290866.4_Missense_Mutation_p.E923K|ACE_ENST00000290863.6_Missense_Mutation_p.E349K|ACE_ENST00000421982.2_Missense_Mutation_p.E169K P12821 ACE_HUMAN angiotensin I converting enzyme 923 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GATGTTTAAGGAGGCTGATGA 0.632000 8 41 0 0 1 0 0 AGO2 27161 broad.mit.edu 37 8 141542232 141542232 + Missense_Mutation SNP A A G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:141542232A>G ENST00000220592.5 - 19 2603 c.2491T>C c.(2491-2493)Tct>Cct p.S831P AGO2_ENST00000519980.1_Missense_Mutation_p.S797P NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 CTCTGCCCAGAGGTATGGCTT 0.532000 34 107 0 0 1 0 0 LRFN1 57622 broad.mit.edu 37 19 39805577 39805577 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:39805577G>A ENST00000248668.4 - 1 399 c.400C>T c.(400-402)Cgc>Tgc p.R134C CTC-246B18.8_ENST00000601911.1_RNA NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 134 cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CCCAGGCCGCGGAGCTGGTCG 0.706000 6 9 0 0 1 0 0 OR1D4 653166 broad.mit.edu 37 17 3144402 3144402 + RNA SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:3144402C>T ENST00000531680.1 + 0 433 NR_033795.1 olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) TGTCTTGCTCCTCTCCTTGTG 0.577000 4 14 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92471750 92471750 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:92471750G>A ENST00000267622.4 - 11 2943 c.2570C>T c.(2569-2571)tCc>tTc p.S857F NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 857 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) CTCTTTCATGGATCCAAGACT 0.413000 T PDGFRB AML 20 26 0 0 1 0 0 GABPA 2551 broad.mit.edu 37 21 27117662 27117662 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr21:27117662C>T ENST00000354828.3 + 3 746 c.219C>T c.(217-219)atC>atT p.I73I GABPA_ENST00000400075.3_Silent_p.I73I|GABPA_ENST00000487266.1_3'UTR NM_001197297.1 NP_001184226.1 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha subunit 60kDa 73 positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 24 TGCAAGATATCCAGGTAATTT 0.318000 6 61 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153056655 153056655 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:153056655G>A ENST00000285900.5 + 7 1306 c.963G>A c.(961-963)ggG>ggA p.G321G GRIA1_ENST00000340592.5_Silent_p.G321G|GRIA1_ENST00000518783.1_Silent_p.G331G|GRIA1_ENST00000518142.1_Silent_p.G241G|GRIA1_ENST00000521843.2_Silent_p.G252G|GRIA1_ENST00000448073.4_Silent_p.G331G NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 321 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GGAATGCTGGGGATTGTCTGG 0.567000 10 12 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17071902 17071902 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr22:17071902C>T ENST00000359963.3 - 1 1798 c.1539G>A c.(1537-1539)caG>caA p.Q513Q NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 513 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.Q513H(2) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CAGTCACGAGCTGTAGCACCA 0.498000 31 52 0 0 1 0 0 PKLR 5313 broad.mit.edu 37 1 155269926 155269926 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:155269926G>A ENST00000392414.3 - 2 266 c.153C>T c.(151-153)ccC>ccT p.P51P PKLR_ENST00000342741.4_Silent_p.P82P NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 82 Missing (in PKRD). endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) GAGCAGCCACGGGCTCGGAGT 0.582000 19 35 0 0 1 0 0 GLUL 2752 broad.mit.edu 37 1 182356320 182356320 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:182356320C>T ENST00000311223.5 - 4 1170 c.274G>A c.(274-276)Gac>Aac p.D92N GLUL_ENST00000339526.4_Missense_Mutation_p.D92N|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Missense_Mutation_p.D92N|GLUL_ENST00000331872.6_Missense_Mutation_p.D92N NM_002065.5 NP_002056.2 P15104 GLNA_HUMAN glutamate-ammonia ligase 92 cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 16 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) TTGTTAGGGTCCTTACGGAAG 0.478000 28 37 0 0 1 0 0 AMTN 401138 broad.mit.edu 37 4 71396779 71396779 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:71396779C>T ENST00000339336.4 + 8 511 c.381C>T c.(379-381)atC>atT p.I127I AMTN_ENST00000504451.1_Silent_p.I126I NM_212557.2 NP_997722.1 Q6UX39 AMTN_HUMAN amelotin 127 biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth basal lamina|cell-cell junction NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1) 19 Lung(101;0.235) CGAGCCTCATCATCCATTCCT 0.488000 9 13 0 0 1 0 0 FAM171B 165215 broad.mit.edu 37 2 187608231 187608231 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:187608231C>T ENST00000304698.5 + 3 697 c.494C>T c.(493-495)tCa>tTa p.S165L NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 165 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GTTACACTTTCACTGTTCCCG 0.323000 16 29 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11583189 11583189 + Missense_Mutation SNP G G C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:11583189G>C ENST00000262442.3 + 18 3537 c.3469G>C c.(3469-3471)Gaa>Caa p.E1157Q DNAH9_ENST00000454412.2_Missense_Mutation_p.E1157Q NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1157 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) GGCTGTTAAAGAACGGCAGAG 0.408000 24 41 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71444132 71444132 + Missense_Mutation SNP A A G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:71444132A>G ENST00000304743.2 + 6 1524 c.1078A>G c.(1078-1080)Aaa>Gaa p.K360E PCNX_ENST00000238570.5_Missense_Mutation_p.K360E|PCNX_ENST00000439984.3_Missense_Mutation_p.K360E NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 360 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TGGGAAGAGCAAACCTTTGAA 0.478000 21 23 0 0 1 0 0 IFNW1 3467 broad.mit.edu 37 9 21141283 21141283 + Missense_Mutation SNP G G T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:21141283G>T ENST00000380229.2 - 1 861 c.287C>A c.(286-288)tCc>tAc p.S96Y NM_002177.1 NP_002168.1 P05000 IFNW1_HUMAN interferon, omega 1 96 cell cycle arrest|defense response|response to virus extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|lung(2)|ovary(1) 5 GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GGCAGCAGAGGAGCGCTCTGT 0.547000 17 8 3.41278e-10 3.46372e-10 1 1 0 USP24 23358 broad.mit.edu 37 1 55598327 55598327 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:55598327G>A ENST00000294383.6 - 31 3427 c.3428C>T c.(3427-3429)tCc>tTc p.S1143F USP24_ENST00000407756.1_Missense_Mutation_p.S983F NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 1143 Ser-rich. ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 TGATGACAGGGATGGAGATTT 0.393000 7 15 0 0 1 0 0 PIGR 5284 broad.mit.edu 37 1 207110764 207110764 + Missense_Mutation SNP C C T rs137917999 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:207110764C>T ENST00000356495.4 - 4 904 c.721G>A c.(721-723)Gag>Aag p.E241K NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 241 E -> Q (in Ref. 6; AA sequence and 7; AA sequence). extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 AGCTCGGGCTCGGGCTTTAGC 0.552000 18 25 0 0 1 0 0 PKP1 5317 broad.mit.edu 37 1 201287848 201287848 + Nonsense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:201287848G>A ENST00000263946.3 + 6 1408 c.1157G>A c.(1156-1158)tGg>tAg p.W386* PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000367324.3_Nonsense_Mutation_p.W386*|PKP1_ENST00000352845.3_Nonsense_Mutation_p.W386* NM_000299.3 NP_000290.2 Q13835 PKP1_HUMAN plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) 386 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 TTCTCTGGCTGGTGCGATGGC 0.572000 9 11 0 0 1 0 0 FAM47E-STBD1 100631383 broad.mit.edu 37 4 77230887 77230887 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:77230887C>T ENST00000237642.6 + 2 1555 c.811C>T c.(811-813)Cat>Tat p.H271Y FAM47E_ENST00000515604.1_3'UTR|FAM47E-STBD1_ENST00000539752.1_Missense_Mutation_p.H122Y NM_003943.4 NP_003934.1 GTTCCAGGTCCATTATGTCAC 0.478000 7 10 0 0 1 0 0 PLEKHA7 144100 broad.mit.edu 37 11 17035708 17035708 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:17035708C>T ENST00000355661.3 - 2 137 c.127G>A c.(127-129)Ggg>Agg p.G43R PLEKHA7_ENST00000448080.2_Missense_Mutation_p.G43R|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.G43R|PLEKHA7_ENST00000532079.1_Silent_p.P21P|OR7E14P_ENST00000530490.1_RNA Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 43 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 ACGGGCTCCCCGGTGCGCGGA 0.746000 6 6 0 0 1 0 0 RUNDC1 146923 broad.mit.edu 37 17 41142977 41142977 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:41142977C>T ENST00000361677.1 + 5 1098 c.1086C>T c.(1084-1086)ggC>ggT p.G362G NM_173079.2 NP_775102.2 Q96C34 RUND1_HUMAN RUN domain containing 1 362 breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) GTGCCACAGGCCAGATCCCTC 0.592000 23 25 0 0 1 0 0 DNM3 26052 broad.mit.edu 37 1 172001583 172001583 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:172001583G>A ENST00000358155.4 + 5 807 c.631G>A c.(631-633)Gat>Aat p.D211N DNM3_ENST00000355305.5_Missense_Mutation_p.D211N|DNM3_ENST00000367731.1_Missense_Mutation_p.D211N|DNM3_ENST00000520906.1_Missense_Mutation_p.D211N|DNM3_ENST00000367733.2_Missense_Mutation_p.D211N NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 211 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GGACCTTATGGATGAAGGAAC 0.383000 29 38 0 0 1 0 0 POLR2B 5431 broad.mit.edu 37 4 57883231 57883231 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:57883231G>A ENST00000381227.1 + 16 2391 c.1978G>A c.(1978-1980)Ggg>Agg p.G660R POLR2B_ENST00000431623.2_Missense_Mutation_p.G585R|POLR2B_ENST00000441246.2_Missense_Mutation_p.G653R|POLR2B_ENST00000314595.5_Missense_Mutation_p.G660R P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 660 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) TGTGGCCAGTGGGGTAGTGGA 0.368000 13 27 0 0 1 0 0 SCLT1 132320 broad.mit.edu 37 4 129924982 129924982 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:129924982G>A ENST00000281142.5 - 6 843 c.340C>T c.(340-342)Ccc>Tcc p.P114S SCLT1_ENST00000434680.1_Missense_Mutation_p.P114S|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Missense_Mutation_p.P91S NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 114 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 GTGCCCAGGGGAAAGGCCTCC 0.388000 24 25 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66102039 66102039 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:66102039G>A ENST00000349533.6 + 20 3024 c.2839G>A c.(2839-2841)Gat>Aat p.D947N LEPR_ENST00000406510.3_Missense_Mutation_p.D14N NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 947 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TTCAACAACAGATCTTGAAAA 0.408000 24 39 0 0 1 0 0 CLDN9 9080 broad.mit.edu 37 16 3063829 3063829 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:3063829C>T ENST00000445369.2 + 1 1373 c.466C>T c.(466-468)Ctc>Ttc p.L156F NM_020982.3 NP_066192.1 O95484 CLD9_HUMAN claudin 9 156 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(2)|large_intestine(1)|lung(5)|prostate(2) 10 GGCTGAGGCCCTCAAGCGGGA 0.697000 23 22 0 0 1 0 0 TICRR 90381 broad.mit.edu 37 15 90168542 90168542 + Nonsense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:90168542G>A ENST00000268138.7 + 20 5106 c.5001G>A c.(4999-5001)tgG>tgA p.W1667* KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Nonsense_Mutation_p.W1666* TOPBP1-interacting checkpoint and replication regulator GGGTTCCTTGGACACCATCCC 0.597000 22 46 0 0 1 0 0 EPHX2 2053 broad.mit.edu 37 8 27401963 27401963 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:27401963C>T ENST00000521400.1 + 19 2022 c.1592C>T c.(1591-1593)cCa>cTa p.P531L EPHX2_ENST00000521780.1_Missense_Mutation_p.P465L|EPHX2_ENST00000518379.1_Missense_Mutation_p.P499L|EPHX2_ENST00000517536.1_Missense_Mutation_p.P348L|EPHX2_ENST00000380476.3_Missense_Mutation_p.P478L NM_001979.5 NP_001970.2 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 531 Epoxide hydrolase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 27 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) TCCCCCAGGCCAACCGAGGTG 0.527000 35 31 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45458398 45458398 + RNA SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:45458398C>T ENST00000548424.1 + 0 448 TACCTGTTTTCCTTTGGCTCC 0.522000 3 12 0 0 1 0 0 TRAV12-2 28673 broad.mit.edu 37 14 22356172 22356172 + RNA SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:22356172C>T ENST00000390437.2 + 0 136 ACTAGTGATCCTGTGGCTTCA 0.373000 9 7 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152652229 152652229 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:152652229C>T ENST00000367255.5 - 78 14192 c.13591G>A c.(13591-13593)Gaa>Aaa p.E4531K SYNE1_ENST00000265368.4_Missense_Mutation_p.E4531K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E4460K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E4460K|SYNE1_ENST00000341594.5_Intron NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4531 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCCAGCACTTCACTCTTTTCC 0.463000 HNSCC(10;0.0054) 60 61 0 0 1 0 0 TRPC3 7222 broad.mit.edu 37 4 122853785 122853785 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:122853785G>A ENST00000264811.5 - 1 827 c.409C>T c.(409-411)Ccc>Tcc p.P137S TRPC3_ENST00000513531.1_Missense_Mutation_p.P137S|TRPC3_ENST00000379645.3_Missense_Mutation_p.P210S NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 125 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TGCTCACAGGGGCTCAGAGTG 0.652000 17 18 0 0 1 0 0 ZIM2 23619 broad.mit.edu 37 19 57286577 57286577 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:57286577G>A ENST00000391708.3 - 12 1605 c.1063C>T c.(1063-1065)Ccc>Tcc p.P355S ZIM2_ENST00000593711.1_Missense_Mutation_p.P355S|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.P355S|ZIM2_ENST00000221722.5_Missense_Mutation_p.P355S|ZIM2_ENST00000599935.1_Missense_Mutation_p.P355S NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) CATTCATAGGGTTTCTTCCCA 0.448000 19 38 0 0 1 0 0 CDYL2 124359 broad.mit.edu 37 16 80718715 80718715 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:80718715G>A ENST00000299564.8 - 2 491 c.336C>T c.(334-336)ccC>ccT p.P112P CDYL2_ENST00000566173.1_Silent_p.P112P|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000563890.1_Silent_p.P112P|CDYL2_ENST00000562812.1_Silent_p.P112P NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 112 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 GCTTGGCCAGGGGAGGGTTAA 0.547000 11 10 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25972930 25972930 + Missense_Mutation SNP G G T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:25972930G>T ENST00000435504.4 - 12 1788 c.1495C>A c.(1495-1497)Cag>Aag p.Q499K ASXL2_ENST00000272341.4_Missense_Mutation_p.Q239K|ASXL2_ENST00000336112.4_Missense_Mutation_p.Q471K|ASXL2_ENST00000404843.1_Missense_Mutation_p.Q239K Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 499 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCAGATTCCTGTTCAGCAGAG 0.453000 39 62 6.29468e-14 6.4168e-14 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25446294 25446294 + RNA SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:25446294G>A ENST00000424208.1 + 0 1869 SNHG14_ENST00000424333.1_RNA NR_003305.1 CTGTGAAATGGGAGGAAGAAT 0.557000 12 8 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857384 9857384 + Silent SNP T T C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:9857384T>C ENST00000396573.2 - 14 4326 c.4017A>G c.(4015-4017)aaA>aaG p.K1339K GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000330684.3_Silent_p.K1339K|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000396575.2_Silent_p.K1339K NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1339 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGGAGCTTTTTTTCCCCGAGA 0.557000 25 28 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22415324 22415324 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:22415324G>A ENST00000334304.5 - 13 2192 c.1923C>T c.(1921-1923)ttC>ttT p.F641F GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 641 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) TTCCATTGCGGAATGCAATGA 0.423000 16 33 0 0 1 0 0 FAM129A 116496 broad.mit.edu 37 1 184859248 184859248 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:184859248G>A ENST00000367511.3 - 4 620 c.427C>T c.(427-429)Cct>Tct p.P143S NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 143 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 TCACCAAGAGGGTCTGGGAAA 0.458000 11 13 0 0 1 0 0 PVR 5817 broad.mit.edu 37 19 45162022 45162022 + Missense_Mutation SNP G G T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:45162022G>T ENST00000425690.3 + 6 1303 c.1004G>T c.(1003-1005)aGt>aTt p.S335I PVR_ENST00000403059.4_Missense_Mutation_p.S335I|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Missense_Mutation_p.S335I|PVR_ENST00000344956.4_Intron NM_006505.3 NP_006496.3 P15151 PVR_HUMAN poliovirus receptor 335 adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus cell adhesion molecule binding|receptor activity large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 Lung NSC(12;0.00608)|all_lung(12;0.0148) Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112) Epithelial(262;0.000601) GGACCTCCCAGTGAGCACTCA 0.463000 46 40 1.21353e-23 1.24476e-23 1 1 0 MYCBPAP 84073 broad.mit.edu 37 17 48601045 48601045 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:48601045G>A ENST00000323776.5 + 12 1826 c.1664G>A c.(1663-1665)cGa>cAa p.R555Q MYCBPAP_ENST00000436259.2_Missense_Mutation_p.R518Q NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 518 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) TGGGAGTTTCGAACCCATCCT 0.478000 11 20 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47855918 47855918 + Silent SNP C C G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr21:47855918C>G ENST00000359568.5 + 39 8960 c.8853C>G c.(8851-8853)cgC>cgG p.R2951R PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2951 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CTGGCAGCCGCCTCCACCTAG 0.622000 38 73 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11143993 11143993 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:11143993C>T ENST00000358026.2 + 26 3858 c.3574C>T c.(3574-3576)Cgc>Tgc p.R1192C SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1192C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1192C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1192C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1192C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1192C|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1192C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1192C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1192C NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1192 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.R1192C(1)|p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CCGAGCCCACCGCATCGGGCA 0.607000 """F, N, Mis""" NSCLC 51 69 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8657671 8657671 + Missense_Mutation SNP G G C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:8657671G>C ENST00000270328.4 - 12 1829 c.1563C>G c.(1561-1563)tgC>tgG p.C521W ADAMTS10_ENST00000597188.1_Missense_Mutation_p.C521W Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 521 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 TGTGCGTCTGGCACAGCGTGC 0.711000 16 21 0 0 1 0 0 HDAC4 9759 broad.mit.edu 37 2 240016726 240016726 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:240016726G>A ENST00000345617.3 - 17 3036 c.2245C>T c.(2245-2247)Ctc>Ttc p.L749F HDAC4_ENST00000543185.1_Missense_Mutation_p.L333F|HDAC4_ENST00000541256.1_Missense_Mutation_p.L723F NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 749 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) CCGCAAGGGAGCCGGACGAAC 0.602000 29 12 0 0 1 0 0 ALOX15 246 broad.mit.edu 37 17 4542748 4542748 + Missense_Mutation SNP A A T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:4542748A>T ENST00000570836.1 - 3 410 c.314T>A c.(313-315)gTc>gAc p.V105D ALOX15_ENST00000545513.1_Missense_Mutation_p.V127D|ALOX15_ENST00000293761.3_Missense_Mutation_p.V105D|ALOX15_ENST00000574640.1_Missense_Mutation_p.V66D P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 105 PLAT. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) CAGGCTCAGGACGCCGTTGCC 0.662000 14 28 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10645339 10645339 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:10645339G>A ENST00000547195.1 - 9 1660 c.1160C>T c.(1159-1161)gCt>gTt p.A387V MRVI1_ENST00000423302.2_Missense_Mutation_p.A478V|MRVI1_ENST00000534266.2_Missense_Mutation_p.A163V|MRVI1_ENST00000527509.2_Missense_Mutation_p.A387V|MRVI1_ENST00000424001.1_Missense_Mutation_p.A163V|MRVI1_ENST00000421747.1_Missense_Mutation_p.A469V|MRVI1_ENST00000545852.1_Missense_Mutation_p.A163V|MRVI1_ENST00000541483.1_Missense_Mutation_p.A272V|MRVI1_ENST00000558540.1_Missense_Mutation_p.A163V|MRVI1_ENST00000436272.1_Missense_Mutation_p.A451V|MRVI1_ENST00000531107.1_Missense_Mutation_p.A470V|MRVI1_ENST00000552103.1_Missense_Mutation_p.A387V NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 451 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TTCCTGCTCAGCTGCTTCACT 0.463000 9 19 0 0 1 0 0 AMIGO2 347902 broad.mit.edu 37 12 47471750 47471750 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:47471750C>T ENST00000266581.4 - 2 1502 c.1036G>A c.(1036-1038)Gga>Aga p.G346R AMIGO2_ENST00000321382.3_Missense_Mutation_p.G346R|AMIGO2_ENST00000550413.1_Missense_Mutation_p.G346R|AMIGO2_ENST00000429635.1_Missense_Mutation_p.G346R NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 346 Ig-like C2-type. heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) ACCAGACTTCCATTGTGAAAC 0.428000 33 48 0 0 1 0 0 TSPAN6 7105 broad.mit.edu 37 X 99890734 99890734 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:99890734C>T ENST00000373020.4 - 2 208 c.97G>A c.(97-99)Gtt>Att p.V33I TSPAN6_ENST00000496771.1_5'UTR NM_003270.2 NP_003261.1 O43657 TSN6_HUMAN tetraspanin 6 33 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|ovary(1) 12 AGAAGGATAACGCCAGTGATC 0.443000 4 0 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16436876 16436876 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:16436876C>T ENST00000380672.4 - 6 1373 c.1316G>A c.(1315-1317)gGa>gAa p.G439E BNC2_ENST00000545497.1_Missense_Mutation_p.G344E|BNC2_ENST00000380666.2_Missense_Mutation_p.G439E|BNC2_ENST00000380667.2_Missense_Mutation_p.G372E NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 439 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) GAACACTCTTCCTTTCCTAGA 0.438000 11 5 0 0 1 0 0 CTBP1-AS2 92070 broad.mit.edu 37 4 1244740 1244740 + RNA SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:1244740C>T ENST00000581398.1 + 0 694 CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000357591.2_RNA NR_033339.1 CTCCAGGATCCACTTCCTGCG 0.567000 12 14 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32633018 32633018 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:32633018G>A ENST00000242310.4 - 1 2649 c.2560C>T c.(2560-2562)Cct>Tct p.P854S NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 854 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GAATGGGAAGGAAAGGCTTTT 0.443000 18 41 0 0 1 0 0 CPT1C 126129 broad.mit.edu 37 19 50208484 50208484 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:50208484G>A ENST00000392518.4 + 10 1265 c.893G>A c.(892-894)gGa>gAa p.G298E CPT1C_ENST00000405931.2_Missense_Mutation_p.G287E|CPT1C_ENST00000598293.1_Missense_Mutation_p.G298E|CPT1C_ENST00000323446.5_Missense_Mutation_p.G298E|CPT1C_ENST00000354199.5_Missense_Mutation_p.G298E NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 298 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) TTGCTGATGGGAATGCGCCCC 0.587000 34 75 0 0 1 0 0 DNAJC3 5611 broad.mit.edu 37 13 96415967 96415967 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr13:96415967C>T ENST00000602402.1 + 8 1036 c.919C>T c.(919-921)Cgt>Tgt p.R307C DNAJC3_ENST00000376795.6_Missense_Mutation_p.R256C NM_006260.4 NP_006251.1 Q13217 DNJC3_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 3 307 protein folding|response to unfolded protein|response to virus heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.126) ATATACAGTTCGTTCAAAGGA 0.368000 56 8 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 247436 247436 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:247436G>A ENST00000538872.1 + 4 1025 c.907G>A c.(907-909)Gaa>Aaa p.E303K IQSEC3_ENST00000382841.2_5'UTR|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.E303K Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 303 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CTTGCAGATTGAAATGCTAGA 0.602000 13 19 0 0 1 0 0 MAN2A1 4124 broad.mit.edu 37 5 109159485 109159485 + Missense_Mutation SNP T T G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:109159485T>G ENST00000261483.4 + 16 3565 c.2513T>G c.(2512-2514)gTg>gGg p.V838G NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 838 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) TATTCGGAAGTGACTTGCTTT 0.338000 24 31 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147964138 147964138 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:147964138C>T ENST00000361727.3 + 21 3911 c.3395C>T c.(3394-3396)cCt>cTt p.P1132L CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P191L NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1132 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) GATCATTATCCTTCTGTGAGT 0.458000 HNSCC(39;0.1) 50 38 0 0 1 0 0 HNF4G 3174 broad.mit.edu 37 8 76463718 76463718 + Missense_Mutation SNP C C T rs147422598 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:76463718C>T ENST00000396423.2 + 4 572 c.448C>T c.(448-450)Cgg>Tgg p.R150W HNF4G_ENST00000354370.1_Missense_Mutation_p.R113W NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 113 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) AGCTGAAGTTCGGTCTCGCCA 0.423000 5 27 0 0 1 0 0 ZNF488 118738 broad.mit.edu 37 10 48371279 48371279 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:48371279C>T ENST00000395702.2 + 2 974 c.747C>T c.(745-747)ccC>ccT p.P249P ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Silent_p.P142P Q96MN9 ZN488_HUMAN zinc finger protein 488 249 P -> S (in dbSNP:rs3814160). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 CCCAGGTGCCCCCACCCTCAT 0.587000 20 16 0 0 1 0 0 SERPINB13 5275 broad.mit.edu 37 18 61260157 61260157 + Missense_Mutation SNP G G A rs138290904 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr18:61260157G>A ENST00000344731.5 + 5 526 c.424G>A c.(424-426)Gat>Aat p.D142N SERPINB13_ENST00000269489.5_Missense_Mutation_p.D142N NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 142 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 AAATGCAGCCGATGAAAGTCG 0.323000 21 45 0 0 1 0 0 OSCP1 127700 broad.mit.edu 37 1 36888436 36888436 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:36888436C>T ENST00000356637.5 - 7 775 c.712G>A c.(712-714)Gtc>Atc p.V238I OSCP1_ENST00000495222.1_5'UTR|OSCP1_ENST00000235532.5_Missense_Mutation_p.V228I|OSCP1_ENST00000433045.2_Missense_Mutation_p.V183I|OSCP1_ENST00000315643.9_Missense_Mutation_p.V238I Q8WVF1 OSCP1_HUMAN organic solute carrier partner 1 238 transport basal plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 22 GGTGCAGGGACATAGTTTCCA 0.393000 26 33 0 0 1 0 0 FIGF 2277 broad.mit.edu 37 X 15371246 15371246 + Missense_Mutation SNP T T G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:15371246T>G ENST00000297904.3 - 5 1115 c.686A>C c.(685-687)gAt>gCt p.D229A NM_004469.4 NP_004460.1 O43915 VEGFD_HUMAN c-fos induced growth factor (vascular endothelial growth factor D) 229 4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C. angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 17 Hepatocellular(33;0.183) TTTGTTGCTATCCCATAGCAT 0.328000 18 27 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47084151 47084151 + Missense_Mutation SNP G G C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:47084151G>C ENST00000409792.3 - 17 7180 c.7138C>G c.(7138-7140)Ccc>Gcc p.P2380A NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2380 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding p.P2380fs(2)|p.P1877fs(2)|p.S1879fs*47(1)|p.S2382fs*47(1) breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) GGAGAGGGGGGCGGCAGATCC 0.428000 """N, F, S, Mis""" clear cell renal carcinoma 19 61 0 0 1 0 0 CD33 945 broad.mit.edu 37 19 51728627 51728627 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:51728627G>A ENST00000262262.4 + 2 212 c.191G>A c.(190-192)gGa>gAa p.G64E CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.G64E NM_001772.3 NP_001763.3 P20138 CD33_HUMAN CD33 molecule 64 Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) TTCCGGGAAGGAGCCATTATA 0.537000 52 38 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98844724 98844724 + Missense_Mutation SNP G G C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:98844724G>C ENST00000477737.1 + 15 2283 c.2079G>C c.(2077-2079)aaG>aaC p.K693N NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 693 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 ATCTGGAGAAGATGCAAGACC 0.438000 18 19 0 0 1 0 0 CD3G 917 broad.mit.edu 37 11 118221328 118221328 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:118221328C>T ENST00000532917.1 + 4 437 c.369C>T c.(367-369)atC>atT p.I123I CD3G_ENST00000392883.2_Intron|CD3G_ENST00000532903.1_3'UTR NM_000073.2 NP_000064.1 P09693 CD3G_HUMAN CD3g molecule, gamma (CD3-TCR complex) 123 establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity breast(2)|kidney(1)|large_intestine(2)|skin(1) 6 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) TTGCTGAAATCGTCAGCATTT 0.463000 16 38 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160053229 160053229 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:160053229C>T ENST00000263635.6 + 18 3327 c.3090C>T c.(3088-3090)ccC>ccT p.P1030P TANC1_ENST00000454300.1_Silent_p.P924P NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1030 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 CGGGTCCTCCCCAGCCAGGCA 0.667000 12 31 0 0 1 0 0 ZFYVE19 84936 broad.mit.edu 37 15 41105055 41105055 + Missense_Mutation SNP C C G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:41105055C>G ENST00000355341.4 + 7 1486 c.985C>G c.(985-987)Ctg>Gtg p.L329V ZFYVE19_ENST00000299173.10_Intron|ZFYVE19_ENST00000564258.1_Missense_Mutation_p.L154V|ZFYVE19_ENST00000570108.1_Missense_Mutation_p.L306V|ZFYVE19_ENST00000336455.5_Missense_Mutation_p.L319V NM_001077268.1 NP_001070736.1 Q96K21 ZFY19_HUMAN zinc finger, FYVE domain containing 19 329 zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 9 all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164) GATTCTGGCCCTGGCCAAGCG 0.632000 21 60 0 0 1 0 0 ABCB9 23457 broad.mit.edu 37 12 123425463 123425463 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:123425463G>A ENST00000542678.1 - 8 4298 c.1460C>T c.(1459-1461)cCg>cTg p.P487L ABCB9_ENST00000442833.2_Missense_Mutation_p.P487L|ABCB9_ENST00000442028.2_Missense_Mutation_p.P487L|ABCB9_ENST00000280560.8_Missense_Mutation_p.P487L|ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000392439.3_Missense_Mutation_p.P487L|ABCB9_ENST00000346530.5_Missense_Mutation_p.P444L|ABCB9_ENST00000540285.1_Intron|ABCB9_ENST00000344275.7_Missense_Mutation_p.P487L Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 9 487 positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) CACCATGGTCGGCTGCCGGTC 0.647000 3 8 0 0 1 0 0 AK9 221264 broad.mit.edu 37 6 109819057 109819057 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:109819057G>A ENST00000424296.2 - 37 5234 c.5158C>T c.(5158-5160)Cct>Tct p.P1720S RP5-919F19.5_ENST00000423747.1_RNA NM_001145128.2 NP_001138600.2 adenylate kinase 9 GCACACTTAGGGAATCGACTC 0.498000 19 35 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140552978 140552978 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:140552978G>A ENST00000231137.3 + 1 736 c.562G>A c.(562-564)Ggg>Agg p.G188R NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 188 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAGCGGGGAGGGGAATATCTA 0.493000 24 12 0 0 1 0 0 SHQ1 55164 broad.mit.edu 37 3 72891523 72891523 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:72891523G>A ENST00000325599.8 - 3 378 c.239C>T c.(238-240)aCc>aTc p.T80I SHQ1_ENST00000463369.1_Missense_Mutation_p.T52I NM_018130.2 NP_060600.2 Q6PI26 SHQ1_HUMAN SHQ1, H/ACA ribonucleoprotein assembly factor 80 CS. ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) CTGGCCAGGGGTTTCTTTGGG 0.388000 13 20 0 0 1 0 0 ASPH 444 broad.mit.edu 37 8 62415997 62415997 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:62415997G>A ENST00000541428.1 - 25 2271 c.2111C>T c.(2110-2112)tCt>tTt p.S704F ASPH_ENST00000379454.4_Missense_Mutation_p.S733F NM_001164750.1 NP_001158222.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 733 muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) CAGCCGGAAAGATGAGGCATC 0.507000 7 17 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142217587 142217587 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:142217587G>A ENST00000350721.4 - 32 5531 c.5410C>T c.(5410-5412)Ctg>Ttg p.L1804L ATR_ENST00000383101.3_Silent_p.L1740L NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1804 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 AGCTGTCCCAGTCTGACACTC 0.383000 Other conserved DNA damage response genes 9 12 0 0 1 0 0 DDX26B 203522 broad.mit.edu 37 X 134709067 134709067 + Silent SNP A A G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:134709067A>G ENST00000370752.4 + 13 2023 c.1689A>G c.(1687-1689)acA>acG p.T563T DDX26B_ENST00000493637.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 563 large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) ATCTGAAGACATTGGCTTCTC 0.408000 47 15 0 0 1 0 0 RGS3 5998 broad.mit.edu 37 9 116356775 116356775 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:116356775C>T ENST00000374140.2 + 23 3355 c.3146C>T c.(3145-3147)cCc>cTc p.P1049L RGS3_ENST00000342620.5_Missense_Mutation_p.P19L|RGS3_ENST00000374134.3_Missense_Mutation_p.P370L|RGS3_ENST00000350696.5_Missense_Mutation_p.P1049L|RGS3_ENST00000343817.5_Missense_Mutation_p.P768L|RGS3_ENST00000462403.1_Missense_Mutation_p.P162L|RGS3_ENST00000394646.3_Missense_Mutation_p.P442L|RGS3_ENST00000462143.1_Missense_Mutation_p.P370L NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 1049 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 GGAGCCCCTCCCGCGGGCAAG 0.587000 19 14 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14535325 14535325 + RNA SNP C C G rs79010943 byFrequency TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:14535325C>G ENST00000273083.3 - 0 3044 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CGTGTACGGACGTGGTTGACC 0.607000 14 10 0 0 1 0 0 OR4M2 390538 broad.mit.edu 37 15 22369472 22369472 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:22369472C>T ENST00000332663.2 + 1 995 c.897C>T c.(895-897)gcC>gcT p.A299A RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TAAAGGCAGCCATGAGGAAGT 0.348000 5 52 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50929197 50929197 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr18:50929197G>A ENST00000442544.2 + 19 3485 c.2869G>A c.(2869-2871)Gaa>Aaa p.E957K DCC_ENST00000581580.1_Missense_Mutation_p.E592K|DCC_ENST00000412726.1_Missense_Mutation_p.E785K NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 957 Fibronectin type-III 6. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CATTACTAGGGAAGGGAAGCC 0.493000 22 39 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65233446 65233446 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:65233446G>A ENST00000389722.3 - 31 6396 c.6343C>T c.(6343-6345)Ccg>Tcg p.P2115S SPTB_ENST00000542895.1_Missense_Mutation_p.P2115S|SPTB_ENST00000556626.1_Missense_Mutation_p.P2115S|SPTB_ENST00000389720.3_Missense_Mutation_p.P2098L|SPTB_ENST00000389721.5_Missense_Mutation_p.P2115S NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 2115 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) AGACTGACCGGGGACGTTCTC 0.592000 43 62 0 0 1 0 0 SMTNL2 342527 broad.mit.edu 37 17 4498564 4498564 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:4498564G>A ENST00000389313.4 + 5 998 c.931G>A c.(931-933)Gag>Aag p.E311K SMTNL2_ENST00000338859.4_Missense_Mutation_p.E167K NM_001114974.1 NP_001108446.1 Q2TAL5 SMTL2_HUMAN smoothelin-like 2 311 breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1) 13 READ - Rectum adenocarcinoma(115;0.0325) CCGCACCTCGGAGGCGCAGGC 0.687000 15 18 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48750989 48750989 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:48750989G>A ENST00000285238.8 + 19 2649 c.2569G>A c.(2569-2571)Gac>Aac p.D857N NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 857 bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CCCCGATGAGGACCAAGGGCA 0.612000 13 19 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70527625 70527625 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:70527625C>T ENST00000381269.2 - 3 2569 c.1816G>A c.(1816-1818)Gag>Aag p.E606K SLC8A3_ENST00000216568.7_5'UTR|SLC8A3_ENST00000357887.3_Intron|SLC8A3_ENST00000356921.2_Missense_Mutation_p.E606K|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E606K|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000533899.1_5'UTR|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000528359.1_Intron NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 606 Calx-beta 2. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TCGTATTCCTCCTCATCTACT 0.438000 14 16 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22261174 22261174 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:22261174C>T ENST00000324559.8 + 9 1139 c.822C>T c.(820-822)caC>caT p.H274H NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 274 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ACACACTTCACCAGAATTGGG 0.398000 31 55 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8221114 8221114 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:8221114G>A ENST00000539824.1 + 9 1115 c.741G>A c.(739-741)gaG>gaA p.E247E SH3TC1_ENST00000245105.3_Silent_p.E323E Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 323 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 GGCCCGAAGAGATGACCTTCC 0.682000 28 34 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 4 57 0 0 1 0 0 PKD2L1 9033 broad.mit.edu 37 10 102054364 102054364 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:102054364G>A ENST00000318222.3 - 9 1969 c.1587C>T c.(1585-1587)atC>atT p.I529I PKD2L1_ENST00000338519.3_Silent_p.I454I|PKD2L1_ENST00000353274.3_Silent_p.I529I NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 529 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) TGGCATTGTCGATAGCATTGT 0.542000 25 43 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104709460 104709460 + Missense_Mutation SNP G G C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:104709460G>C ENST00000406091.3 + 2 323 c.323G>C c.(322-324)tGt>tCt p.C108S NM_001100117.2 NP_001093587.1 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 139 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.C108F(1)|p.C144F(1) NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GGCCATAACTGTTCATATTGC 0.428000 HNSCC(12;0.0054) 52 80 0 0 1 0 0 TRIM3 10612 broad.mit.edu 37 11 6477533 6477533 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:6477533G>A ENST00000525074.1 - 6 1817 c.1423C>T c.(1423-1425)Cgt>Tgt p.R475C TRIM3_ENST00000345851.3_Missense_Mutation_p.R475C|TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000359518.3_Missense_Mutation_p.R475C|TRIM3_ENST00000537602.1_Missense_Mutation_p.R397C|TRIM3_ENST00000536344.1_Missense_Mutation_p.R356C NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 475 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTACCAACACGGAAGACGAGC 0.572000 22 43 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126370646 126370646 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:126370646G>A ENST00000394329.3 + 9 8488 c.8475G>A c.(8473-8475)ggG>ggA p.G2825G FAT4_ENST00000335110.5_Silent_p.G1123G NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2825 Cadherin 27. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CCAGCACAGGGGATATTGTCA 0.403000 23 35 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24193072 24193072 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:24193072C>T ENST00000265769.4 + 14 1595 c.1485C>T c.(1483-1485)ttC>ttT p.F495F RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Silent_p.F495F|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Silent_p.F242F|ADAM28_ENST00000540823.1_Silent_p.F262F NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 495 Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) TCAATGGCTTCCCTTGCCATC 0.522000 8 13 0 0 1 0 0 PCDHB15 56121 broad.mit.edu 37 5 140627314 140627314 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:140627314G>A ENST00000231173.3 + 1 2168 c.2168G>A c.(2167-2169)gGt>gAt p.G723D NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 723 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCTCAGTGGGTCGCTGCTCG 0.652000 69 119 0 0 1 0 0 BRCA1 672 broad.mit.edu 37 17 41245054 41245054 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:41245054G>A ENST00000309486.4 - 9 2633 c.1606C>T c.(1606-1608)Cca>Tca p.P536S BRCA1_ENST00000471181.2_Missense_Mutation_p.P832S|BRCA1_ENST00000354071.3_Missense_Mutation_p.P832S|BRCA1_ENST00000493795.1_Missense_Mutation_p.P785S|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.P832S|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.P832S NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 832 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TGTCCCAATGGATACTTAAAG 0.373000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 48 68 0 0 1 0 0 PAIP2 51247 broad.mit.edu 37 5 138699534 138699534 + Missense_Mutation SNP A A G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:138699534A>G ENST00000394795.2 + 2 1052 c.61A>G c.(61-63)Aac>Gac p.N21D PAIP2_ENST00000511706.1_Missense_Mutation_p.N21D|PAIP2_ENST00000510080.1_Missense_Mutation_p.N21D|PAIP2_ENST00000265192.4_Missense_Mutation_p.N21D Q9BPZ3 PAIP2_HUMAN poly(A) binding protein interacting protein 2 21 negative regulation of translational initiation cytoplasm protein binding|translation repressor activity kidney(1)|large_intestine(2)|lung(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TGTGATTATTAACGGTCATTC 0.368000 13 13 0 0 1 0 0 PHACTR4 65979 broad.mit.edu 37 1 28793236 28793236 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:28793236C>T ENST00000373839.3 + 6 1041 c.780C>T c.(778-780)atC>atT p.I260I PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Silent_p.I270I NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 260 Pro-rich. actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) AGCCCCCTATCCCTCCCCCTA 0.522000 28 46 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9260172 9260172 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:9260172G>A ENST00000318602.7 - 8 1134 c.827C>T c.(826-828)tCc>tTc p.S276F NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 276 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) GTGGCAGTCGGAAGCGTCACT 0.438000 22 30 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85401339 85401339 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:85401339C>T ENST00000258888.5 + 6 4143 c.3976C>T c.(3976-3978)Cct>Tct p.P1326S NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1326 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCAGGCAGCCCCTGGACAGGG 0.677000 11 11 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80773077 80773077 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:80773077G>A ENST00000466387.1 + 15 2153 c.1429G>A c.(1429-1431)Gtt>Att p.V477I CTNNA2_ENST00000540488.1_Missense_Mutation_p.V477I|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V511I|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V477I|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V477I|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V477I|CTNNA2_ENST00000343114.3_Missense_Mutation_p.V156I P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 477 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 ACAGAGCAAAGTTGCTCAGGA 0.507000 7 10 0 0 1 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361671 105361671 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:105361671C>T ENST00000297581.2 + 2 940 c.891C>T c.(889-891)ttC>ttT p.F297F DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 297 osteoclast differentiation cell surface|integral to membrane|plasma membrane GGCTGTTTTTCCTCCCCATAC 0.478000 54 142 0 0 1 0 0 CP 1356 broad.mit.edu 37 3 148905923 148905923 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:148905923C>T ENST00000264613.6 - 10 2042 c.1780G>A c.(1780-1782)Gaa>Aaa p.E594K CP_ENST00000462336.1_5'UTR NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 594 F5/8 type A 2.|Plastocyanin-like 4. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) ATATTATCTTCCAGGAGTAAA 0.338000 27 30 0 0 1 0 0 JPH3 57338 broad.mit.edu 37 16 87717796 87717796 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:87717796G>A ENST00000284262.2 + 3 1451 c.1209G>A c.(1207-1209)caG>caA p.Q403Q JPH3_ENST00000563609.1_3'UTR NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 403 Ala-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) CAGCAGCTCAGAAAGCCCAGG 0.657000 9 6 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63447872 63447872 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:63447872C>T ENST00000322893.7 - 6 928 c.660G>A c.(658-660)gtG>gtA p.V220V KCNH5_ENST00000394964.2_Silent_p.V162V|KCNH5_ENST00000420622.2_Silent_p.V220V|KCNH5_ENST00000394968.1_Silent_p.V162V NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 220 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GAATTAAAATCACCCAATCCC 0.393000 19 19 0 0 1 0 0 LINGO1 84894 broad.mit.edu 37 15 77907869 77907869 + Missense_Mutation SNP C C A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:77907869C>A ENST00000355300.6 - 2 554 c.380G>T c.(379-381)cGc>cTc p.R127L LINGO1_ENST00000561030.1_Missense_Mutation_p.R121L NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 127 negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 GCGGTTGCTGCGGAGACCCAG 0.602000 14 14 1.5842e-08 1.60222e-08 1 1 0 FSIP2 401024 broad.mit.edu 37 2 186672707 186672707 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:186672707C>T ENST00000343098.5 + 17 18941 c.18941C>T c.(18940-18942)tCc>tTc p.S6314F FSIP2_ENST00000424728.1_Missense_Mutation_p.S6225F NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 GAATTTATCTCCAAAAGTAAG 0.308000 9 14 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131277451 131277451 + Missense_Mutation SNP G G C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:131277451G>C ENST00000337057.3 - 2 356 c.175C>G c.(175-177)Cta>Gta p.L59V EPB41L2_ENST00000527659.1_Missense_Mutation_p.L59V|EPB41L2_ENST00000525193.1_Missense_Mutation_p.L59V|EPB41L2_ENST00000392427.3_Missense_Mutation_p.L59V|EPB41L2_ENST00000445890.2_Missense_Mutation_p.L59V|EPB41L2_ENST00000529208.1_Missense_Mutation_p.L59V|EPB41L2_ENST00000525271.1_Missense_Mutation_p.L59V|EPB41L2_ENST00000527411.1_Missense_Mutation_p.L59V|EPB41L2_ENST00000530481.1_Missense_Mutation_p.L59V|EPB41L2_ENST00000368128.2_Missense_Mutation_p.L59V|EPB41L2_ENST00000528282.1_Missense_Mutation_p.L59V|EPB41L2_ENST00000530148.1_Intron NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 59 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TGGCGGCGTAGACTACTTTGG 0.468000 30 56 0 0 1 0 0 TCP10 6953 broad.mit.edu 37 6 167787877 167787877 + Missense_Mutation SNP C C T rs140641521 by1000genomes TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:167787877C>T ENST00000366827.2 - 7 962 c.751G>A c.(751-753)Gag>Aag p.E251K TCP10_ENST00000397829.4_Missense_Mutation_p.E251K Q12799 TCP10_HUMAN t-complex 10 278 cytosol NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) CTGGCGAACTCGTCAGCTTGA 0.542000 3 27 0 0 1 0 0 TFR2 7036 broad.mit.edu 37 7 100238723 100238723 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:100238723C>T ENST00000462107.1 - 3 449 c.162G>A c.(160-162)atG>atA p.M54I TFR2_ENST00000223051.3_Missense_Mutation_p.M54I|TFR2_ENST00000431692.1_Missense_Mutation_p.M54I Q9UP52 TFR2_HUMAN transferrin receptor 2 54 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CCCTCAGCTCCATGGGGCAGA 0.677000 5 11 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80051581 80051581 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:80051581G>A ENST00000306749.2 - 4 565 c.347C>T c.(346-348)aCc>aTc p.T116I NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 116 Beta-ketoacyl synthase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GGCCTCCGAGGTCTCAGAGCC 0.637000 31 74 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9045740 9045740 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:9045740G>A ENST00000397910.4 - 5 36094 c.35891C>T c.(35890-35892)cCa>cTa p.P11964L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11966 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 GATAGTGGTTGGACTCACTCC 0.478000 40 51 0 0 1 0 0 MALL 7851 broad.mit.edu 37 2 110849295 110849295 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:110849295G>A ENST00000272462.2 - 2 931 c.158C>T c.(157-159)cCc>cTc p.P53L MALL_ENST00000427178.1_Intron NM_005434.4 NP_005425.1 Q13021 MALL_HUMAN mal, T-cell differentiation protein-like 53 MARVEL. cholesterol homeostasis clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane protein binding kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 9 Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18) TTGCAGCAAGGGGTATACTAT 0.438000 9 49 0 0 1 0 0 HEXDC 284004 broad.mit.edu 37 17 80391593 80391593 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:80391593C>T ENST00000337014.6 + 5 816 c.342C>T c.(340-342)acC>acT p.T114T HEXDC_ENST00000327949.9_Silent_p.T114T|HEXDC_ENST00000577944.1_Silent_p.T114T NM_173620.2 NP_775891.2 Q8WVB3 HEXDC_HUMAN hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 114 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) TCCCCTGCACCCTGAACCCCC 0.672000 16 76 0 0 1 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140803044 140803044 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:140803044C>T ENST00000398587.2 + 1 2283 c.2250C>T c.(2248-2250)ttC>ttT p.F750F PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACAGGCTTTCCTGCAAACCT 0.577000 23 42 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21101739 21101739 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:21101739G>A ENST00000377122.4 - 24 2873 c.2477C>T c.(2476-2478)cCt>cTt p.P826L NEBL_ENST00000377159.4_Missense_Mutation_p.P129L|NEBL_ENST00000417816.2_Missense_Mutation_p.P163L NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 826 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CACGATGTGAGGGTGGACCCC 0.547000 5 22 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247752312 247752312 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:247752312C>T ENST00000320065.1 + 1 651 c.651C>T c.(649-651)atC>atT p.I217I RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TCTCATTCATCCTGGTCTCCT 0.517000 15 34 0 0 1 0 0 PPA1 5464 broad.mit.edu 37 10 71973282 71973282 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:71973282C>T ENST00000373232.2 - 6 547 c.448G>A c.(448-450)Ggg>Agg p.G150R PPA1_ENST00000373230.4_Missense_Mutation_p.G150R NM_021129.3 NP_066952.1 Q15181 IPYR_HUMAN pyrophosphatase (inorganic) 1 150 diphosphate metabolic process|tRNA aminoacylation for protein translation cytosol inorganic diphosphatase activity|magnesium ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2) 10 TCGGTTTCCCCTTCGTCAATC 0.388000 25 32 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37769437 37769437 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr22:37769437G>A ENST00000402918.1 - 3 2923 c.2138C>T c.(2137-2139)cCc>cTc p.P713L ELFN2_ENST00000349653.3_Missense_Mutation_p.P713L|RP1-63G5.5_ENST00000430883.1_RNA NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 713 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) GTACAGGGCGGGAAAGCTGTG 0.711000 4 7 0 0 1 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161163569 161163569 + Missense_Mutation SNP G G C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:161163569G>C ENST00000367996.4 - 6 2024 c.1596C>G c.(1594-1596)tgC>tgG p.C532W NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 532 TSP type-1. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) AGGTCCGAGAGCAGTCACCCC 0.622000 17 39 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152185609 152185609 + Silent SNP A A G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:152185609A>G ENST00000368801.2 - 3 8571 c.8496T>C c.(8494-8496)ccT>ccC p.P2832P FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2832 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AAGTGCTACTAGGAAAACTGA 0.393000 12 30 0 0 1 0 0 SDF4 51150 broad.mit.edu 37 1 1163999 1163999 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:1163999G>A ENST00000263741.7 - 2 467 c.175C>T c.(175-177)Cca>Tca p.P59S SDF4_ENST00000545427.1_Missense_Mutation_p.P59S|SDF4_ENST00000360001.6_Missense_Mutation_p.P59S|SDF4_ENST00000459994.2_5'UTR NM_016176.3|NM_016547.2 NP_057260.2|NP_057631.1 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 59 cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|identical protein binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) AGGTGGTCTGGGGGCAGGATC 0.612000 23 34 0 0 1 0 0 SPATA21 374955 broad.mit.edu 37 1 16736390 16736390 + Missense_Mutation SNP G G T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:16736390G>T ENST00000335496.1 - 6 775 c.293C>A c.(292-294)tCc>tAc p.S98Y SPATA21_ENST00000540400.1_Missense_Mutation_p.S75Y|SPATA21_ENST00000466212.1_5'UTR NM_198546.1 NP_940948.1 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 98 calcium ion binding breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2) 19 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) TCTCCGATGGGAGGCCTCCAT 0.657000 14 24 9.04627e-18 9.25442e-18 1 1 0 FIZ1 84922 broad.mit.edu 37 19 56103979 56103979 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:56103979G>A ENST00000221665.3 - 3 1417 c.1328C>T c.(1327-1329)cCg>cTg p.P443L NM_032836.2 NP_116225.2 Q96SL8 FIZ1_HUMAN FLT3-interacting zinc finger 1 443 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CTCCAGGCACGGGAACGGCTT 0.662000 17 16 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71576558 71576558 + Silent SNP T T C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:71576558T>C ENST00000409544.1 + 2 1104 c.474T>C c.(472-474)agT>agC p.S158S ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Silent_p.S158S|ZNF638_ENST00000264447.4_Silent_p.S158S|ZNF638_ENST00000355812.3_Silent_p.S158S NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 158 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 AAGAACTTAGTCGCTATCCTG 0.398000 14 33 0 0 1 0 0 ZNF135 7694 broad.mit.edu 37 19 58578692 58578692 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:58578692C>T ENST00000506786.1 + 5 1268 c.714C>T c.(712-714)aaC>aaT p.N238N ZNF135_ENST00000511556.1_Silent_p.N292N|ZNF135_ENST00000359978.6_Silent_p.N292N|ZNF135_ENST00000439855.2_Silent_p.N280N|ZNF135_ENST00000401053.4_Silent_p.N304N|ZNF135_ENST00000313434.5_Silent_p.N280N B4DHH9 B4DHH9_HUMAN zinc finger protein 135 292 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) GGACCTTCAACCAAATTGCCC 0.493000 58 51 0 0 1 0 0 LAMC2 3918 broad.mit.edu 37 1 183191251 183191251 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:183191251G>A ENST00000264144.4 + 6 733 c.668G>A c.(667-669)cGa>cAa p.R223Q LAMC2_ENST00000493293.1_Missense_Mutation_p.R223Q NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 223 Laminin IV type A. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 GCTGTCCAACGAAATGGGTCT 0.453000 19 31 0 0 1 0 0 GAS2L1 10634 broad.mit.edu 37 22 29708319 29708319 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr22:29708319C>T ENST00000406549.3 + 6 1348 c.1198C>T c.(1198-1200)Ccc>Tcc p.P400S GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 404 cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 TTGCACTGAACCCTCGAGGAC 0.697000 26 31 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108127150 108127150 + Missense_Mutation SNP G G T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:108127150G>T ENST00000273353.3 - 33 4713 c.4657C>A c.(4657-4659)Cag>Aag p.Q1553K NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1553 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 AGTGTCACCTGGACTTCTGTC 0.408000 45 73 1.0096e-33 1.03742e-33 1 1 0 LSG1 55341 broad.mit.edu 37 3 194387226 194387226 + Missense_Mutation SNP T T C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:194387226T>C ENST00000265245.5 - 3 616 c.302A>G c.(301-303)aAg>aGg p.K101R NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 101 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) ATGGAGCTTCTTAATTCTCTG 0.398000 26 37 0 0 1 0 0 INTS8 55656 broad.mit.edu 37 8 95869013 95869013 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:95869013C>T ENST00000523731.1 + 15 1894 c.1761C>T c.(1759-1761)tcC>tcT p.S587S INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Silent_p.S587S NM_017864.2 NP_060334.2 Q75QN2 INT8_HUMAN integrator complex subunit 8 587 snRNA processing integrator complex protein binding breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 28 Breast(36;1.05e-06) AGGACTTTTCCCATGCTAAAC 0.428000 40 90 0 0 1 0 0 TCEB3C 162699 broad.mit.edu 37 18 44554593 44554593 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr18:44554593C>T ENST00000330682.2 - 1 1856 c.1621G>A c.(1621-1623)Gga>Aga p.G541R KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 541 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding p.G541R(1) NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 GAGAATCTTCCCTTGTAGTCT 0.577000 20 272 0 0 1 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227485 56227485 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:56227485C>T ENST00000341744.3 - 4 807 c.488G>A c.(487-489)gGc>gAc p.G163D PMEPA1_ENST00000347215.4_Missense_Mutation_p.G128D|PMEPA1_ENST00000395814.1_Missense_Mutation_p.G113D|PMEPA1_ENST00000265626.4_Missense_Mutation_p.G113D|PMEPA1_ENST00000395816.3_Missense_Mutation_p.G113D NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 163 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 GGTGCAGGGGCCCTGGTAGGG 0.652000 19 12 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 33031450 33031450 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:33031450G>A ENST00000340811.4 - 3 472 c.364C>T c.(364-366)Cgc>Tgc p.R122C PKP2_ENST00000070846.6_Missense_Mutation_p.R122C NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 122 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) CTTCCCCAGCGACCTTCATAA 0.478000 68 104 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176915132 176915132 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:176915132C>T ENST00000367654.2 - 13 2216 c.2203G>A c.(2203-2205)Gag>Aag p.E735K ASTN1_ENST00000424564.2_Missense_Mutation_p.E727K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E727K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.E727K O14525 ASTN1_HUMAN astrotactin 1 735 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 AAGAACATCTCCCCAAAGAGG 0.498000 24 42 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101768645 101768645 + Silent SNP T T C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:101768645T>C ENST00000261637.4 + 55 7365 c.7191T>C c.(7189-7191)gtT>gtC p.V2397V NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 2397 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 GTGAAGGAGTTGATTTTGAGA 0.368000 47 51 0 0 1 0 0 ZNF510 22869 broad.mit.edu 37 9 99521617 99521617 + Nonsense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:99521617G>A ENST00000375231.1 - 6 2145 c.1495C>T c.(1495-1497)Cag>Tag p.Q499* ZNF510_ENST00000223428.4_Nonsense_Mutation_p.Q499* Q9Y2H8 ZN510_HUMAN zinc finger protein 510 499 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 21 Acute lymphoblastic leukemia(62;0.0527) GTGGACTTCTGAACAAAAGTT 0.413000 36 15 0 0 1 0 0 ZNF384 171017 broad.mit.edu 37 12 6776965 6776965 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:6776965G>A ENST00000396795.1 - 9 1963 c.1466C>T c.(1465-1467)cCg>cTg p.P489L ZNF384_ENST00000361959.3_Missense_Mutation_p.P550L|ZNF384_ENST00000355772.4_Missense_Mutation_p.P434L|ZNF384_ENST00000319770.3_Missense_Mutation_p.P473L|ZNF384_ENST00000396799.2_Missense_Mutation_p.P489L|ZNF384_ENST00000396801.3_Missense_Mutation_p.P550L|RP4-761J14.8_ENST00000589924.1_RNA Q8TF68 ZN384_HUMAN zinc finger protein 384 550 Ala-rich.|Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 18 CGTCTTATACGGGGTCAGGTC 0.617000 T """EWSR1, TAF15 """ ALL 51 73 0 0 1 0 0 NCF1 653361 broad.mit.edu 37 7 74197916 74197916 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:74197916C>T ENST00000289473.4 + 7 693 c.623C>T c.(622-624)tCc>tTc p.S208F NCF1_ENST00000443956.3_3'UTR NM_000265.4 NP_000256.3 P14598 NCF1_HUMAN neutrophil cytosolic factor 1 208 SH3 1. cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation cytosol|NADPH oxidase complex|soluble fraction electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 ATCCCAGCGTCCTTCCTCGAG 0.632000 9 30 0 0 1 0 0 FOXJ3 22887 broad.mit.edu 37 1 42744050 42744050 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:42744050G>A ENST00000372572.1 - 5 649 c.338C>T c.(337-339)cCa>cTa p.P113L FOXJ3_ENST00000372573.1_Missense_Mutation_p.P113L|FOXJ3_ENST00000361346.1_Missense_Mutation_p.P113L|FOXJ3_ENST00000545068.1_Missense_Mutation_p.P113L|FOXJ3_ENST00000361776.1_Missense_Mutation_p.P113L NM_001198851.1 NP_001185780.1 Q9UPW0 FOXJ3_HUMAN forkhead box J3 113 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TCTATAATATGGGAAGTTATC 0.318000 22 26 0 0 1 0 0 DHX29 54505 broad.mit.edu 37 5 54557288 54557288 + Missense_Mutation SNP T T C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:54557288T>C ENST00000251636.5 - 25 4016 c.3868A>G c.(3868-3870)Ata>Gta p.I1290V RP11-506H20.1_ENST00000506435.1_RNA NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 1290 ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) AAAGGGGTTATTAGGGTAGTT 0.363000 20 43 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43933431 43933431 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:43933431C>T ENST00000537548.1 - 4 324 c.80G>A c.(79-81)aGg>aAg p.R27K MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372756.1_Missense_Mutation_p.R27K|MATN4_ENST00000353917.5_Missense_Mutation_p.R27K|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.R27K|MATN4_ENST00000360607.5_Missense_Mutation_p.R27K|MATN4_ENST00000342716.4_Missense_Mutation_p.R27K O95460 MATN4_HUMAN matrilin 4 27 extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) AGTGTGACACCTGGGACCTGC 0.622000 10 8 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55718307 55718307 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:55718307C>T ENST00000376350.3 - 3 124 c.102G>A c.(100-102)agG>agA p.R34R PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.R34R NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 34 Fibronectin type-III 1. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CTGTCAGGTTCCTCCCTGGGT 0.572000 27 17 0 0 1 0 0 RNF43 54894 broad.mit.edu 37 17 56434692 56434692 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:56434692G>A ENST00000581868.1 - 8 2261 c.2064C>T c.(2062-2064)aaC>aaT p.N688N RNF43_ENST00000577625.1_Intron|RNF43_ENST00000577716.1_Intron|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000583753.1_Intron|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Intron|RNF43_ENST00000584437.1_Intron Q68DV7 RNF43_HUMAN ring finger protein 43 0 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) tgtcccgatggttaagtattt 0.517000 3 5 0 0 1 0 0 PARP12 64761 broad.mit.edu 37 7 139726008 139726008 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:139726008G>A ENST00000263549.3 - 11 2642 c.1769C>T c.(1768-1770)tCc>tTc p.S590F NM_022750.2 NP_073587.1 Q9H0J9 PAR12_HUMAN poly (ADP-ribose) polymerase family, member 12 590 PARP catalytic. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) CTTGCCGTAGGAAGTGCCATG 0.587000 19 46 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15063832 15063832 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:15063832G>A ENST00000430939.2 - 8 1344 c.1215C>T c.(1213-1215)ccC>ccT p.P405P SLC1A6_ENST00000600144.1_Silent_p.P391P|SLC1A6_ENST00000221742.3_Silent_p.P469P P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 469 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) GACCCGCCTGGGGGATGCCAG 0.607000 72 117 0 0 1 0 0 KANSL1 284058 broad.mit.edu 37 17 44248953 44248953 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:44248953G>A ENST00000262419.6 - 2 1027 c.557C>T c.(556-558)tCt>tTt p.S186F KANSL1_ENST00000575318.1_Missense_Mutation_p.S186F|KANSL1_ENST00000574590.1_Missense_Mutation_p.S186F|KANSL1_ENST00000572904.1_Missense_Mutation_p.S186F|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Missense_Mutation_p.S186F NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 186 MLL1 complex protein binding ATGAAGAGCAGATGAAGTGAG 0.458000 34 98 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126173490 126173490 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:126173490G>A ENST00000339582.2 - 9 2754 c.1946C>T c.(1945-1947)tCc>tTc p.S649F GRM8_ENST00000358373.3_Missense_Mutation_p.S649F|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.S649F O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 649 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane p.S649F(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CCGTCGGAAGGAGCATATGAT 0.453000 HNSCC(24;0.065) 9 41 0 0 1 0 0 PANX3 116337 broad.mit.edu 37 11 124481634 124481634 + Splice_Site SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:124481634G>A ENST00000284288.2 + 1 248 c.e1+1 NM_052959.2 NP_443191.1 Q96QZ0 PANX3_HUMAN pannexin 3 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) TTCTCCTCTGGTAAGTTGCTT 0.577000 12 17 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38888431 38888431 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:38888431C>T ENST00000302328.3 - 26 5328 c.5130G>A c.(5128-5130)aaG>aaA p.K1710K SCN11A_ENST00000450244.1_Silent_p.K1710K|SCN11A_ENST00000456224.3_Silent_p.K1672K NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1710 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CTTCCATGAACTTCTCTTCCA 0.463000 50 67 0 0 1 0 0 PRTG 283659 broad.mit.edu 37 15 55965624 55965624 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:55965624C>T ENST00000389286.4 - 10 1844 c.1797G>A c.(1795-1797)ctG>ctA p.L599L NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 599 Fibronectin type-III 2. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) ATGACTCTCCCAGCCCCACTC 0.478000 16 32 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6966275 6966275 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr18:6966275G>A ENST00000389658.3 - 49 7014 c.6921C>T c.(6919-6921)tcC>tcT p.S2307S NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2307 Laminin G-like 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAAAATGGAAGGAAGGGTCTT 0.453000 3 3 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161324256 161324256 + Missense_Mutation SNP T T A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:161324256T>A ENST00000428797.2 + 11 1554 c.1199T>A c.(1198-1200)gTc>gAc p.V400D GABRA1_ENST00000023897.6_Missense_Mutation_p.V400D|GABRA1_ENST00000444819.1_Missense_Mutation_p.V400D|GABRA1_ENST00000420560.1_Missense_Mutation_p.V400D|GABRA1_ENST00000393943.4_Missense_Mutation_p.V400D|GABRA1_ENST00000437025.2_Missense_Mutation_p.V400D NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 400 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CCTAAAGAGGTCAAGCCCGAA 0.488000 6 66 0 0 1 0 0 C9 735 broad.mit.edu 37 5 39306815 39306815 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:39306815C>T ENST00000263408.4 - 9 1415 c.1320G>A c.(1318-1320)ctG>ctA p.L440L NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 440 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) GCTTTTCTTTCAGTTCAAATG 0.393000 13 28 0 0 1 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42129313 42129313 + Nonsense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:42129313C>T ENST00000542534.1 + 8 950 c.910C>T c.(910-912)Cag>Tag p.Q304* JMJD7_ENST00000408047.1_Nonsense_Mutation_p.Q205*|JMJD7-PLA2G4B_ENST00000382448.4_Intron|JMJD7-PLA2G4B_ENST00000476036.1_Intron|JMJD7-PLA2G4B_ENST00000342159.4_Intron|JMJD7_ENST00000397299.4_Nonsense_Mutation_p.Q304* NM_001114632.1 NP_001108104.1 P0C869 PA24B_HUMAN 0 PLA2c. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 TAGTTACTTCCAGCTGCTCGA 0.557000 15 6 0 0 1 0 0 AK9 221264 broad.mit.edu 37 6 109819134 109819134 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:109819134G>A ENST00000424296.2 - 37 5157 c.5081C>T c.(5080-5082)cCc>cTc p.P1694L RP5-919F19.5_ENST00000423747.1_RNA NM_001145128.2 NP_001138600.2 adenylate kinase 9 AGGTGCTAAGGGAGGCACGTA 0.463000 16 23 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117171125 117171125 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:117171125G>A ENST00000003084.6 + 4 578 c.446G>A c.(445-447)gGa>gAa p.G149E CFTR_ENST00000454343.1_Missense_Mutation_p.G149E NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 149 ABC transmembrane type-1 1. G -> R (in CBAVD). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) CATCACATTGGAATGCAGATG 0.408000 Cystic Fibrosis 4 17 0 0 1 0 0 CAMLG 819 broad.mit.edu 37 5 134079737 134079737 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:134079737C>T ENST00000297156.2 + 3 814 c.694C>T c.(694-696)Ccc>Tcc p.P232S CAMLG_ENST00000514518.1_Missense_Mutation_p.S78F NM_001745.3 NP_001736.1 P49069 CAMLG_HUMAN calcium modulating ligand 232 defense response endoplasmic reticulum|integral to membrane NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Cyclosporine(DB00091) CAAATATTTTCCCAAGGTAAA 0.289000 9 5 0 0 1 0 0 VPS37B 79720 broad.mit.edu 37 12 123351773 123351773 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:123351773G>A ENST00000267202.2 - 4 1129 c.748C>T c.(748-750)Ccc>Tcc p.P250S NM_024667.2 NP_078943.1 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37 homolog B (S. cerevisiae) 250 Pro-rich. cellular membrane organization|endosome transport|protein transport late endosome membrane breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1) 5 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205) TGCTGAGTGGGGAGGCCCACG 0.667000 13 7 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8722110 8722110 + Splice_Site SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:8722110G>A ENST00000378641.3 + 23 2888 c.e23-1 PLCB1_ENST00000494924.1_Splice_Site|PLCB1_ENST00000378637.2_Splice_Site|PLCB1_ENST00000338037.6_Splice_Site NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TCCCTATTTAGATGTCATCGA 0.388000 8 11 0 0 1 0 0 IKBKB 3551 broad.mit.edu 37 8 42176187 42176187 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:42176187C>T ENST00000520810.1 + 13 1544 c.1358C>T c.(1357-1359)gCc>gTc p.A453V IKBKB_ENST00000416505.2_Missense_Mutation_p.A394V|IKBKB_ENST00000379708.3_Missense_Mutation_p.A230V|IKBKB_ENST00000520835.1_Missense_Mutation_p.A451V|IKBKB_ENST00000522785.1_3'UTR|IKBKB_ENST00000522147.1_Intron NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 453 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) GGACAGCGAGCCGCCATGTAG 0.537000 17 13 0 0 1 0 0 NCKIPSD 51517 broad.mit.edu 37 3 48716841 48716841 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:48716841G>A ENST00000294129.2 - 9 1658 c.1539C>T c.(1537-1539)tcC>tcT p.S513S NCKIPSD_ENST00000341520.4_Silent_p.S513S|NCKIPSD_ENST00000416649.2_Silent_p.S506S NM_016453.2 NP_057537.1 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain 513 cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction intermediate filament|nucleus cytoskeletal protein binding|SH3 domain binding endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCTCTCCCATGGAGAAGACCA 0.582000 23 30 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159687209 159687209 + Missense_Mutation SNP G G A rs143447403 by1000genomes TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:159687209G>A ENST00000297267.9 + 21 5578 c.5378G>A c.(5377-5379)cGa>cAa p.R1793Q FNDC1_ENST00000340366.6_Missense_Mutation_p.R1730Q NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1793 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) ACGTGGTATCGAAAGTTCGTG 0.478000 20 27 0 0 1 0 0 GP5 2814 broad.mit.edu 37 3 194118880 194118880 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:194118880G>A ENST00000401815.1 - 1 203 c.132C>T c.(130-132)tcC>tcT p.S44S GP5_ENST00000323007.3_Silent_p.S44S P40197 GPV_HUMAN glycoprotein V (platelet) 44 LRRNT. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) GGCCTAGCGCGGAGATGCGCG 0.697000 22 24 0 0 1 0 0 FUT8 2530 broad.mit.edu 37 14 66200042 66200042 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:66200042C>T ENST00000360689.5 + 10 3080 c.1353C>T c.(1351-1353)atC>atT p.I451I FUT8_ENST00000394586.2_Silent_p.I451I|FUT8_ENST00000358307.2_Silent_p.I322I|FUT8_ENST00000394585.1_Silent_p.I451I|FUT8_ENST00000417683.1_Silent_p.I45I|FUT8_ENST00000557164.1_Silent_p.I288I NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 451 in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) GTGGAGTGATCCTGGATATAC 0.383000 23 33 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207642047 207642047 + Silent SNP C C T rs140138320 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:207642047C>T ENST00000367057.3 + 3 810 c.621C>T c.(619-621)ccC>ccT p.P207P CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Silent_p.P207P|CR2_ENST00000367059.3_Silent_p.P207P|CR2_ENST00000458541.2_Silent_p.P207P NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 207 Sushi 3. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 GTGCTGTCCCCCCCACATGTG 0.403000 44 57 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870675 51870675 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:51870675C>T ENST00000371497.5 + 2 1565 c.678C>T c.(676-678)acC>acT p.T226T TSHZ2_ENST00000329613.6_Silent_p.T223T|TSHZ2_ENST00000603338.2_Silent_p.T223T NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 226 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CCTATGACACCCTAGTCGAGC 0.557000 16 14 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229437 140229437 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:140229437C>T ENST00000378122.3 + 1 2081 c.1357C>T c.(1357-1359)Cca>Tca p.P453S PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.P453S|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGACAACGCACCAGCGTTCGC 0.672000 38 64 0 0 1 0 0 MIR1283-1 100302265 broad.mit.edu 37 19 54191796 54191796 + RNA SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:54191796C>T ENST00000408494.1 + 0 62 NR_031573.1 GAAAGCGCTTCCCTTTTGAGG 0.428000 36 23 0 0 1 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55300472 55300472 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:55300472G>A ENST00000398661.2 - 10 1232 c.1101C>T c.(1099-1101)tcC>tcT p.S367S HMGCLL1_ENST00000274901.4_Silent_p.S337S|HMGCLL1_ENST00000370850.2_Silent_p.S234S|HMGCLL1_ENST00000507223.1_5'UTR|HMGCLL1_ENST00000308161.4_Silent_p.S305S|HMGCLL1_ENST00000508459.1_Silent_p.S171S NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 367 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) AAGCATTGAAGGAGGCTTGTG 0.383000 20 20 0 0 1 0 0 GSTCD 79807 broad.mit.edu 37 4 106638778 106638778 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:106638778C>T ENST00000515279.1 + 2 228 c.8C>T c.(7-9)gCc>gTc p.A3V GSTCD_ENST00000507281.1_Missense_Mutation_p.A3V|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394728.3_Missense_Mutation_p.A3V|GSTCD_ENST00000394730.3_Missense_Mutation_p.A3V|GSTCD_ENST00000360505.5_Missense_Mutation_p.A3V Q8NEC7 GSTCD_HUMAN glutathione S-transferase, C-terminal domain containing 3 cytoplasm rRNA methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 14 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139) AAAATGAAAGCCATAAAGAAA 0.308000 8 18 0 0 1 0 0 ITGA2B 3674 broad.mit.edu 37 17 42452071 42452071 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:42452071G>A ENST00000262407.5 - 28 2930 c.2899C>T c.(2899-2901)Ccc>Tcc p.P967S ITGA2B_ENST00000353281.4_Intron NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 967 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) ACCGCATAGGGGAGGGAGGAC 0.622000 21 19 0 0 1 0 0 ZNF850 342892 broad.mit.edu 37 19 37240154 37240154 + Silent SNP T T C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:37240154T>C ENST00000591344.1 - 5 1946 c.1788A>G c.(1786-1788)aaA>aaG p.K596K ZNF850_ENST00000589390.1_Intron NM_001193552.1|NM_001267779.1 NP_001180481.1|NP_001254708.1 A8MQ14 ZN850_HUMAN zinc finger protein 850 596 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding CAGTAAAAGATTTTCCACATT 0.393000 8 1 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 62257194 62257194 + Missense_Mutation SNP G G A rs150212631 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:62257194G>A ENST00000474889.1 + 21 3523 c.3146G>A c.(3145-3147)cGg>cAg p.R1049Q PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.R1020Q NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 1049 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) TCAGCAGCTCGGATGCCAGAA 0.537000 12 25 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141242965 141242965 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:141242965G>A ENST00000389484.3 - 59 10343 c.9372C>T c.(9370-9372)ctC>ctT p.L3124L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3124 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTTTGCTAACGAGTATAGTAG 0.368000 TSP Lung(27;0.18) 12 19 0 0 1 0 0 SEC24D 9871 broad.mit.edu 37 4 119745861 119745861 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:119745861C>T ENST00000379735.5 - 3 433 c.162G>A c.(160-162)agG>agA p.R54R SEC24D_ENST00000280551.6_Silent_p.R54R|SEC24D_ENST00000419654.2_5'UTR NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 54 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 GCAACATTCCCCTAGTGGCGG 0.547000 28 49 0 0 1 0 0 G6PC 2538 broad.mit.edu 37 17 41055967 41055967 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:41055967C>T ENST00000253801.2 + 2 329 c.250C>T c.(250-252)Cca>Tca p.P84S G6PC_ENST00000592383.1_Missense_Mutation_p.P84S|G6PC_ENST00000585489.1_Missense_Mutation_p.P84S NM_000151.3 NP_000142.2 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 84 gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) TGGACAGCGTCCATACTGGTG 0.473000 36 34 0 0 1 0 0 MAG 4099 broad.mit.edu 37 19 35791163 35791163 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:35791163G>A ENST00000361922.4 + 6 976 c.826G>A c.(826-828)Gac>Aac p.D276N MAG_ENST00000392213.3_Missense_Mutation_p.D276N|MAG_ENST00000537831.2_Missense_Mutation_p.D251N NM_080600.2 NP_542167.1 P20916 MAG_HUMAN myelin associated glycoprotein 276 Ig-like C2-type 2. blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) CTGGATGCGGGACGGGACAGT 0.687000 4 13 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43748792 43748792 + Missense_Mutation SNP T T A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:43748792T>A ENST00000263801.3 - 12 2251 c.1999A>T c.(1999-2001)Atc>Ttc p.I667F TP53BP1_ENST00000450115.2_Missense_Mutation_p.I672F|TP53BP1_ENST00000382039.3_Missense_Mutation_p.I672F|TP53BP1_ENST00000382044.4_Missense_Mutation_p.I672F NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 667 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GTCTCAGGGATTTCTTCCACC 0.463000 Other conserved DNA damage response genes 52 50 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143559695 143559695 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:143559695G>A ENST00000517894.1 + 7 2429 c.1535G>A c.(1534-1536)cGa>cAa p.R512Q BAI1_ENST00000323289.5_Missense_Mutation_p.R512Q O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 512 TSP type-1 4. axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GTGGAGACCCGAGACTGCTTC 0.692000 7 13 0 0 1 0 0 ZNF432 9668 broad.mit.edu 37 19 52537279 52537279 + Silent SNP G G T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:52537279G>T ENST00000594154.1 - 5 1865 c.1653C>A c.(1651-1653)acC>acA p.T551T ZNF432_ENST00000221315.5_Silent_p.T551T O94892 ZN432_HUMAN zinc finger protein 432 551 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) AGCGTTTCATGGTGAAGCCTT 0.408000 27 56 2.41591e-17 2.46931e-17 1 1 0 MYCT1 80177 broad.mit.edu 37 6 153042967 153042967 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:153042967G>A ENST00000367245.5 + 2 295 c.287G>A c.(286-288)aGa>aAa p.R96K MYCT1_ENST00000529453.1_Intron NM_025107.2 NP_079383.2 Q8N699 MYCT1_HUMAN myc target 1 96 nucleus NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) CTGTCTCGAAGAAGAAGAGCC 0.478000 20 41 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78380729 78380729 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:78380729C>T ENST00000278550.7 - 32 7123 c.6661G>A c.(6661-6663)Ggg>Agg p.G2221R NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TGCAGGTTCCCATTGAGGTCG 0.552000 36 54 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100170904 100170904 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:100170904G>A ENST00000317233.4 - 23 3663 c.3428C>T c.(3427-3429)tCc>tTc p.S1143F AFF3_ENST00000356421.2_Missense_Mutation_p.S1168F|AFF3_ENST00000409236.1_Missense_Mutation_p.S1143F|AFF3_ENST00000409579.1_Missense_Mutation_p.S1168F NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 1143 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 GGTCGACGGGGACAGGGCGCT 0.647000 24 35 0 0 1 0 0 KHDRBS1 10657 broad.mit.edu 37 1 32498826 32498826 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:32498826C>T ENST00000327300.7 + 4 829 c.662C>T c.(661-663)gCc>gTc p.A221V KHDRBS1_ENST00000492989.1_Missense_Mutation_p.A182V|KHDRBS1_ENST00000307714.8_3'UTR NM_006559.1 NP_006550.1 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal transduction associated 1 221 cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 14 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CCCAAATATGCCCACTTGAAT 0.463000 12 20 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110455984 110455984 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:110455984C>T ENST00000378402.5 + 37 4748 c.4644C>T c.(4642-4644)acC>acT p.T1548T NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1548 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGAACAATACCAGGGTTAAAA 0.428000 HNSCC(38;0.096) 5 35 0 0 1 0 0 TCP11 6954 broad.mit.edu 37 6 35087097 35087097 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:35087097C>T ENST00000311875.5 - 9 1643 c.1226G>A c.(1225-1227)gGc>gAc p.G409D TCP11_ENST00000412155.2_Missense_Mutation_p.G358D|TCP11_ENST00000244645.3_Missense_Mutation_p.G334D|TCP11_ENST00000444780.2_Missense_Mutation_p.G404D|TCP11_ENST00000418521.2_Missense_Mutation_p.G333D|TCP11_ENST00000373974.4_Missense_Mutation_p.G363D|TCP11_ENST00000373979.2_Missense_Mutation_p.G334D|TCP11_ENST00000512012.1_Missense_Mutation_p.G396D Q8WWU5 TCP11_HUMAN t-complex 11, testis-specific 396 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 AGCAACAAGGCCCATATTCTT 0.448000 34 46 0 0 1 0 0 PSME4 23198 broad.mit.edu 37 2 54164541 54164541 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:54164541G>A ENST00000404125.1 - 5 737 c.682C>T c.(682-684)Cat>Tat p.H228Y PSME4_ENST00000421748.2_Intron NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 228 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) AAACCTTTATGATGAAGTTCT 0.323000 15 11 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153896837 153896837 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:153896837G>A ENST00000511601.1 + 12 2582 c.2394G>A c.(2392-2394)ccG>ccA p.P798P FHDC1_ENST00000260008.3_Silent_p.P798P Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 798 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) GCGGGGACCCGGAGGAAGGCG 0.627000 29 38 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6828466 6828466 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:6828466G>A ENST00000304076.2 + 11 1154 c.1060G>A c.(1060-1062)Gag>Aag p.E354K VAV1_ENST00000602142.1_Missense_Mutation_p.E354K|VAV1_ENST00000599806.1_Missense_Mutation_p.E299K|VAV1_ENST00000596764.1_Missense_Mutation_p.E322K|VAV1_ENST00000539284.1_Missense_Mutation_p.E257K NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 354 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GATGGAGAAGGAGAACCTGCG 0.627000 33 49 0 0 1 0 0 TDRD9 122402 broad.mit.edu 37 14 104490940 104490940 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:104490940C>T ENST00000409874.4 + 25 2689 c.2641C>T c.(2641-2643)Cct>Tct p.P881S TDRD9_ENST00000339063.5_Missense_Mutation_p.P881S NM_153046.2 NP_694591.2 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 881 cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) GACGGTAGATCCTATGCAAGT 0.353000 14 42 0 0 1 0 0 EMCN 51705 broad.mit.edu 37 4 101344505 101344505 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:101344505G>A ENST00000296420.4 - 6 650 c.472C>T c.(472-474)Cca>Tca p.P158S EMCN_ENST00000305864.3_Intron|EMCN_ENST00000511970.1_Missense_Mutation_p.P145S NM_001159694.1|NM_016242.3 NP_001153166.1|NP_057326.2 Q9ULC0 MUCEN_HUMAN endomucin 158 extracellular region|integral to membrane|plasma membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.49e-08) ATTGTAACTGGTATTGAGGTT 0.403000 18 17 0 0 1 0 0 DHCR7 1717 broad.mit.edu 37 11 71149970 71149970 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:71149970G>A ENST00000355527.3 - 7 1062 c.786C>T c.(784-786)ctC>ctT p.L262L DHCR7_ENST00000407721.2_Silent_p.L262L NM_001163817.1|NM_001360.2 NP_001157289.1|NP_001351.2 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 262 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) CATGGCTGTGGAGCTCCCGCT 0.612000 Smith-Lemli-Opitz syndrome 13 23 0 0 1 0 0 S100A8 6279 broad.mit.edu 37 1 153362614 153362614 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:153362614G>A ENST00000368733.3 - 3 416 c.247C>T c.(247-249)Cac>Tac p.H83Y S100A8_ENST00000368732.1_Missense_Mutation_p.H83Y NM_002964.4 NP_002955.2 P05109 S10A8_HUMAN S100 calcium binding protein A8 83 VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390). chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding breast(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) CTTTTTTTGTGGGCTGCCACG 0.483000 37 48 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33335742 33335742 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:33335742G>A ENST00000404816.2 + 4 1310 c.957G>A c.(955-957)ggG>ggA p.G319G LTBP1_ENST00000354476.3_Silent_p.G319G Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 319 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CCCAGAAGGGGATTTCAGGAG 0.488000 24 37 0 0 1 0 0 POLR2B 5431 broad.mit.edu 37 4 57883232 57883232 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:57883232G>A ENST00000381227.1 + 16 2392 c.1979G>A c.(1978-1980)gGg>gAg p.G660E POLR2B_ENST00000431623.2_Missense_Mutation_p.G585E|POLR2B_ENST00000441246.2_Missense_Mutation_p.G653E|POLR2B_ENST00000314595.5_Missense_Mutation_p.G660E P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 660 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) GTGGCCAGTGGGGTAGTGGAG 0.368000 13 27 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181702138 181702138 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:181702138G>A ENST00000526775.1 + 19 3024 c.2859G>A c.(2857-2859)acG>acA p.T953T CACNA1E_ENST00000357570.5_Silent_p.T923T|CACNA1E_ENST00000367567.4_Silent_p.T579T|CACNA1E_ENST00000367570.1_Silent_p.T972T|CACNA1E_ENST00000367573.2_Silent_p.T972T|CACNA1E_ENST00000360108.3_Silent_p.T953T|CACNA1E_ENST00000358338.5_Silent_p.T904T NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 972 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.T972T(2) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AGGAGCCAACGATCCAAGAAG 0.562000 13 17 0 0 1 0 0 DHRS4 10901 broad.mit.edu 37 14 24435491 24435491 + Splice_Site SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:24435491G>A ENST00000313250.5 + 6 734 c.e6-1 DHRS4_ENST00000382761.3_Intron|DHRS4_ENST00000308178.8_Intron|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000421831.1_Splice_Site|DHRS4_ENST00000558263.1_Intron|DHRS4_ENST00000397075.3_Intron|DHRS4_ENST00000558581.1_Splice_Site|DHRS4_ENST00000543741.2_Intron|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000559632.1_Intron NM_021004.2 NP_066284.2 Q9BTZ2 DHRS4_HUMAN dehydrogenase/reductase (SDR family) member 4 mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) TCTTTCTCCAGGGCTTCAGTC 0.478000 20 47 0 0 1 0 0 COL28A1 340267 broad.mit.edu 37 7 7483232 7483232 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:7483232C>T ENST00000399429.3 - 20 1774 c.1634G>A c.(1633-1635)gGa>gAa p.G545E NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 545 Collagen-like 5. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) GCCAGGCTGTCCTTTTCCAGG 0.512000 10 27 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200965501 200965501 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:200965501C>T ENST00000332129.2 - 15 2416 c.2100G>A c.(2098-2100)gaG>gaA p.E700E KIF21B_ENST00000461742.2_Silent_p.E700E|KIF21B_ENST00000360529.5_Silent_p.E700E|KIF21B_ENST00000422435.2_Silent_p.E700E NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 700 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TGGCCTTCTCCTCAGTATAGC 0.592000 46 58 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8722109 8722109 + Splice_Site SNP A A T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:8722109A>T ENST00000378641.3 + 23 2888 c.e23-1 PLCB1_ENST00000494924.1_Splice_Site|PLCB1_ENST00000378637.2_Splice_Site|PLCB1_ENST00000338037.6_Splice_Site NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TTCCCTATTTAGATGTCATCG 0.388000 8 12 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58097893 58097893 + Missense_Mutation SNP C C G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:58097893C>G ENST00000357272.4 + 18 2758 c.2593C>G c.(2593-2595)Ccg>Gcg p.P865A FLNB_ENST00000493452.1_Missense_Mutation_p.P696A|FLNB_ENST00000490882.1_Missense_Mutation_p.P865A|FLNB_ENST00000429972.2_Missense_Mutation_p.P865A|FLNB_ENST00000419752.2_Missense_Mutation_p.P696A|FLNB_ENST00000358537.3_Missense_Mutation_p.P865A|FLNB_ENST00000348383.5_Missense_Mutation_p.P865A|FLNB_ENST00000295956.4_Missense_Mutation_p.P865A O75369 FLNB_HUMAN filamin B, beta 865 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) AAATGGGAAACCGACCCACTT 0.512000 37 69 0 0 1 0 0 CTDP1 9150 broad.mit.edu 37 18 77477645 77477645 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr18:77477645C>T ENST00000299543.7 + 9 2326 c.2179C>T c.(2179-2181)Ccg>Tcg p.P727S CTDP1_ENST00000075430.7_Missense_Mutation_p.P727S NM_001202504.1|NM_004715.4 NP_001189433.1|NP_004706.3 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 727 BRCT. positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) GCAGCTCTTCCCGCTCAGGGA 0.642000 23 33 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37441035 37441035 + Missense_Mutation SNP T T A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:37441035T>A ENST00000374660.1 + 12 1624 c.1525T>A c.(1525-1527)Tct>Act p.S509T ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S509T|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.S509T Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 565 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TGAAGAAAATTCTTGGGATTC 0.318000 14 21 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207642046 207642046 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:207642046C>T ENST00000367057.3 + 3 809 c.620C>T c.(619-621)cCc>cTc p.P207L CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Missense_Mutation_p.P207L|CR2_ENST00000367059.3_Missense_Mutation_p.P207L|CR2_ENST00000458541.2_Missense_Mutation_p.P207L NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 207 Sushi 3. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 AGTGCTGTCCCCCCCACATGT 0.403000 44 57 0 0 1 0 0 PODN 127435 broad.mit.edu 37 1 53544091 53544091 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:53544091C>T ENST00000371500.3 + 10 1337 c.996C>T c.(994-996)gtC>gtT p.V332V PODN_ENST00000395871.2_Silent_p.V209V|PODN_ENST00000312553.5_Silent_p.V351V|RP11-334A14.5_ENST00000447867.1_RNA NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 303 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TGTCTCGGGTCCCAGCTGGGC 0.627000 15 44 0 0 1 0 0 ENPP3 5169 broad.mit.edu 37 6 131971257 131971257 + Missense_Mutation SNP G G T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:131971257G>T ENST00000414305.1 + 4 573 c.245G>T c.(244-246)tGc>tTc p.C82F ENPP3_ENST00000427148.2_Missense_Mutation_p.C48F|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.C82F|ENPP3_ENST00000358229.5_Missense_Mutation_p.C82F|ENPP3_ENST00000543135.1_Missense_Mutation_p.C48F O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 82 SMB 1. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) GGTGATTGCTGCTGGGATTTT 0.403000 24 53 7.92952e-12 8.06913e-12 1 1 0 GFRAL 389400 broad.mit.edu 37 6 55223866 55223866 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:55223866G>A ENST00000340465.2 + 6 968 c.882G>A c.(880-882)agG>agA p.R294R NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 294 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GTACCTGTAGGACCATTACAC 0.398000 24 35 0 0 1 0 0 H6PD 9563 broad.mit.edu 37 1 9305506 9305506 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:9305506C>T ENST00000377403.2 + 2 815 c.513C>T c.(511-513)gtC>gtT p.V171V H6PD_ENST00000602477.1_Silent_p.V182V NM_004285.3 NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 171 Glucose 1-dehydrogenase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) TGCGGGTTGTCCTTGAGAAAC 0.587000 29 16 0 0 1 0 0 OSBPL7 114881 broad.mit.edu 37 17 45891144 45891144 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:45891144C>T ENST00000007414.3 - 15 1599 c.1408G>A c.(1408-1410)Gcc>Acc p.A470T OSBPL7_ENST00000392507.3_Missense_Mutation_p.A470T NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 470 lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 GGCCCGCTGGCCGCCGGCAGG 0.667000 12 14 0 0 1 0 0 IGHV4-28 28400 broad.mit.edu 37 14 106780540 106780540 + RNA SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:106780540C>T ENST00000390612.2 - 0 395 CGGCCGTGTCCACGGCGGTCA 0.597000 49 115 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212989614 212989614 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:212989614C>T ENST00000342788.4 - 2 407 c.97G>A c.(97-99)Gag>Aag p.E33K ERBB4_ENST00000436443.1_Missense_Mutation_p.E33K|ERBB4_ENST00000402597.1_Missense_Mutation_p.E33K NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 33 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) AGTTTATTCTCCGTTCCTGCA 0.418000 TSP Lung(8;0.080) 13 23 0 0 1 0 0 APLNR 187 broad.mit.edu 37 11 57003960 57003960 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:57003960C>T ENST00000606794.1 - 1 715 c.519G>A c.(517-519)ttG>ttA p.L173L NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 173 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 TGGTGTTCTCCAAGTCCCCGG 0.642000 12 19 0 0 1 0 0 FRS2 10818 broad.mit.edu 37 12 69968623 69968623 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:69968623C>T ENST00000299293.2 + 10 1925 c.1415C>T c.(1414-1416)gCc>gTc p.A472V FRS2_ENST00000397997.2_Missense_Mutation_p.A472V|FRS2_ENST00000550389.1_Missense_Mutation_p.A472V|FRS2_ENST00000549921.1_Missense_Mutation_p.A472V NM_001278351.1|NM_006654.3 NP_001265280.1|NP_006645.3 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 472 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GAGCTGTATGCCGTGATAGAC 0.483000 22 31 0 0 1 0 0 OR2T33 391195 broad.mit.edu 37 1 248436378 248436378 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:248436378C>T ENST00000318021.2 - 1 760 c.739G>A c.(739-741)Gga>Aga p.G247R NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TAAAAGAGTCCCACCACAGCC 0.498000 16 27 0 0 1 0 0 SYT12 91683 broad.mit.edu 37 11 66807424 66807424 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:66807424C>T ENST00000393946.2 + 7 1533 c.371C>T c.(370-372)cCc>cTc p.P124L SYT12_ENST00000525457.1_Missense_Mutation_p.P124L|SYT12_ENST00000527043.1_Missense_Mutation_p.P124L|SYT12_ENST00000526281.1_3'UTR Q8IV01 SYT12_HUMAN synaptotagmin XII 124 cell junction|integral to membrane|synaptic vesicle membrane NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 20 GACCTGGCCCCCTATGGGACC 0.622000 21 45 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121340805 121340805 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:121340805G>A ENST00000338040.4 + 3 943 c.529G>A c.(529-531)Gat>Aat p.D177N NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 177 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) GGGTGGAGTGGATATCGGTTT 0.498000 9 13 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282472 152282472 + Silent SNP G G T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:152282472G>T ENST00000368799.1 - 3 4925 c.4890C>A c.(4888-4890)tcC>tcA p.S1630S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1630 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) TGGGGTTCCTGGAGCCATGTC 0.552000 Ichthyosis 4 177 0.000602214 0.000605356 1 1 0 RANBP1 5902 broad.mit.edu 37 22 20114499 20114499 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr22:20114499C>T ENST00000402752.1 + 6 753 c.527C>T c.(526-528)gCc>gTc p.A176V RANBP1_ENST00000430524.1_3'UTR|RANBP1_ENST00000331821.3_Missense_Mutation_p.A177V NM_001278640.1 NP_001265569.1 P43487 RANG_HUMAN RAN binding protein 1 177 intracellular transport|signal transduction|viral reproduction nuclear envelope GDP-dissociation inhibitor activity|GTPase activator activity|Ran GTPase binding breast(1)|large_intestine(1)|lung(1)|ovary(1) 4 Colorectal(54;0.0993) AATGATCATGCCGAAAAAGTG 0.473000 22 27 0 0 1 0 0 SERPINB4 6318 broad.mit.edu 37 18 61308107 61308107 + Splice_Site SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr18:61308107C>T ENST00000341074.5 - 5 585 c.e5+1 SERPINB4_ENST00000356424.6_Splice_Site NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 GGCTCTCCTACCATTCGTTTG 0.453000 7 18 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189871689 189871689 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:189871689C>T ENST00000304636.3 + 44 3398 c.3228C>T c.(3226-3228)ccC>ccT p.P1076P COL3A1_ENST00000317840.5_Intron NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1076 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CTGGTGCTCCCGGTCCTGCTG 0.393000 13 22 0 0 1 0 0 PAPLN 89932 broad.mit.edu 37 14 73726012 73726012 + Missense_Mutation SNP C C G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:73726012C>G ENST00000427855.1 + 16 1846 c.1744C>G c.(1744-1746)Ccc>Gcc p.P582A PAPLN_ENST00000554301.1_Missense_Mutation_p.P582A|PAPLN_ENST00000555445.1_Missense_Mutation_p.P582A|PAPLN_ENST00000381166.3_Missense_Mutation_p.P582A|PAPLN_ENST00000340738.5_Missense_Mutation_p.P555A O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 582 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CCAGGAACACCCCTCAGCCAG 0.657000 17 47 0 0 1 0 0 RAP1A 5906 broad.mit.edu 37 1 112240096 112240096 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:112240096G>A ENST00000369709.3 + 4 339 c.160G>A c.(160-162)Gaa>Aaa p.E54K RAP1A_ENST00000545460.1_Missense_Mutation_p.E54K|RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000356415.1_Missense_Mutation_p.E54K|RAP1A_ENST00000436150.2_Missense_Mutation_p.E54K NM_002884.2 NP_002875.1 P62834 RAP1A_HUMAN RAP1A, member of RAS oncogene family 54 activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion cytosol|plasma membrane GTP binding|GTPase activity p.E54K(1) endometrium(1)|large_intestine(2)|lung(3) 6 all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021) Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141) GTGTATGCTCGAAATCCTGGA 0.373000 24 35 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158509737 158509737 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:158509737C>T ENST00000355585.4 + 24 3464 c.3389C>T c.(3388-3390)tCc>tTc p.S1130F SYNJ2_ENST00000367122.2_Missense_Mutation_p.S1085F|SYNJ2_ENST00000367112.1_Missense_Mutation_p.S215F|SYNJ2_ENST00000367121.3_Missense_Mutation_p.S1130F NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1130 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) TCCATCTCCTCCGGCACCCAT 0.493000 29 42 0 0 1 0 0 UBXN8 7993 broad.mit.edu 37 8 30601695 30601695 + RNA SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:30601695G>A ENST00000519246.1 + 0 5 O00124 UBXN8_HUMAN UBX domain protein 8 single fertilization central_nervous_system(1)|lung(2) 3 TGCACCAGGCGCTTCCGCCAC 0.627000 5 6 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17594408 17594408 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:17594408C>T ENST00000375460.3 + 6 643 c.603C>T c.(601-603)ctC>ctT p.L201L NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 201 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) AACTTGTCCTCCATACCTCCA 0.572000 18 34 0 0 1 0 0 BICC1 80114 broad.mit.edu 37 10 60560736 60560736 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:60560736C>T ENST00000373886.3 + 14 1949 c.1945C>T c.(1945-1947)Ccc>Tcc p.P649S BICC1_ENST00000263103.1_Missense_Mutation_p.P275S NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 649 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 GATGATGTGTCCCTCCAAGGT 0.438000 19 26 0 0 1 0 0 SMCO1 255798 broad.mit.edu 37 3 196234890 196234890 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:196234890G>A ENST00000397537.2 - 3 669 c.513C>T c.(511-513)aaC>aaT p.N171N NM_001077657.1 NP_001071125.1 single-pass membrane protein with coiled-coil domains 1 TCTTTACCATGTTAGTAATTA 0.458000 21 21 0 0 1 0 0 ERMARD 55780 broad.mit.edu 37 6 170169683 170169683 + Silent SNP A A G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:170169683A>G ENST00000588451.1 + 11 1212 c.699A>G c.(697-699)agA>agG p.R233R C6orf70_ENST00000366772.2_Silent_p.R369R|C6orf70_ENST00000392095.4_Silent_p.R243R|C6orf70_ENST00000366773.3_Silent_p.R369R|C6orf70_ENST00000418781.3_Silent_p.R369R Q5T6L9 CF070_HUMAN 369 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1) 20 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) CCCGCATAAGAGATCATTTAA 0.393000 9 15 0 0 1 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37524220 37524220 + Missense_Mutation SNP A A C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:37524220A>C ENST00000299824.1 + 4 523 c.334A>C c.(334-336)Aac>Cac p.N112H PPP1R16B_ENST00000373331.2_Missense_Mutation_p.N112H|PPP1R16B_ENST00000468265.1_3'UTR NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 112 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) CTGCATCGACAACTTTGAGGA 0.612000 10 14 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131849047 131849047 + Splice_Site SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:131849047C>T ENST00000359827.3 - 24 5316 c.4353_splice c.e24-1 p.E1452_splice PLXNA4_ENST00000321063.4_Splice_Site_p.E1452_splice Q9HCM2 PLXA4_HUMAN plexin A4 1452 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CCAGCACACTCCTGGAGGTGA 0.592000 11 12 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176016051 176016051 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:176016051G>A ENST00000510636.1 + 22 3150 c.2876G>A c.(2875-2877)gGg>gAg p.G959E CDHR2_ENST00000261944.5_Missense_Mutation_p.G959E|CDHR2_ENST00000506348.1_Missense_Mutation_p.G959E NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 959 Cadherin 9. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 GATGATTCAGGGAACAATGGC 0.582000 52 91 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149740 34149740 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:34149740G>A ENST00000346193.3 - 1 707 c.656C>T c.(655-657)cCg>cTg p.P219L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 219 Pro-rich. p.P219L(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 ACTGGACACCGGAGTCTTGGG 0.657000 27 33 0 0 1 0 0 CD2 914 broad.mit.edu 37 1 117297369 117297369 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:117297369G>A ENST00000369478.3 + 2 286 c.178G>A c.(178-180)Gaa>Aaa p.E60K CD2_ENST00000369477.1_Missense_Mutation_p.E60K NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 60 Ig-like V-type. blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) TATAAAATGGGAAAAAACTTC 0.353000 18 12 0 0 1 0 0 POMC 5443 broad.mit.edu 37 2 25384180 25384180 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:25384180C>T ENST00000405623.1 - 3 1029 c.574G>A c.(574-576)Gac>Aac p.D192N POMC_ENST00000380794.1_Missense_Mutation_p.D192N|POMC_ENST00000264708.3_Missense_Mutation_p.D192N|POMC_ENST00000395826.2_Missense_Mutation_p.D192N P01189 COLI_HUMAN proopiomelanocortin 192 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) GCAGGGCCGTCGGGGCCATCT 0.701000 8 13 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64489551 64489551 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:64489551G>A ENST00000358025.3 + 38 5837 c.5607G>A c.(5605-5607)aaG>aaA p.K1869K SYNE2_ENST00000554584.1_Silent_p.K1869K|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.K1869K NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1869 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAACAAAAAAGAGTGTGGAAC 0.308000 5 11 0 0 1 0 0 ARFIP1 27236 broad.mit.edu 37 4 153831231 153831231 + Missense_Mutation SNP A A G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:153831231A>G ENST00000451320.2 + 9 1146 c.982A>G c.(982-984)Aat>Gat p.N328D ARFIP1_ENST00000356064.3_Missense_Mutation_p.N296D|ARFIP1_ENST00000405727.2_Missense_Mutation_p.N296D|ARFIP1_ENST00000429148.2_Missense_Mutation_p.N148D|ARFIP1_ENST00000353617.2_Missense_Mutation_p.N328D P53367 ARFP1_HUMAN ADP-ribosylation factor interacting protein 1 328 AH. intracellular protein transport|regulation of protein secretion cytosol|Golgi membrane ARFIP1/FHDC1(2) cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(180;0.093) AGTATTGCACAATCAGCTGGT 0.373000 30 45 0 0 1 0 0 BIRC2 329 broad.mit.edu 37 11 102248885 102248885 + Missense_Mutation SNP A A G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:102248885A>G ENST00000227758.2 + 9 3227 c.1828A>G c.(1828-1830)Aag>Gag p.K610E BIRC2_ENST00000530675.1_Missense_Mutation_p.K561E|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.K589E NM_001166.4|NM_001256163.1 NP_001157.1|NP_001243092.1 Q13490 BIRC2_HUMAN baculoviral IAP repeat containing 2 610 cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination CD40 receptor complex|cytosol|internal side of plasma membrane protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0144) GGGTATAATCAAGGGTACTGT 0.353000 14 14 0 0 1 0 0 RNF165 494470 broad.mit.edu 37 18 44030264 44030264 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr18:44030264C>T ENST00000269439.7 + 5 672 c.621C>T c.(619-621)gtC>gtT p.V207V RNF165_ENST00000543885.1_Silent_p.V15V NM_152470.2 NP_689683.2 Q6ZSG1 RN165_HUMAN ring finger protein 165 207 zinc ion binding NS(1)|large_intestine(4)|lung(6) 11 READ - Rectum adenocarcinoma(1;0.0873) AACAGGTCGTCCATGAAATCC 0.522000 20 22 0 0 1 0 0 P2RX4 5025 broad.mit.edu 37 12 121659900 121659900 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:121659900C>T ENST00000337233.4 + 4 666 c.358C>T c.(358-360)Cca>Tca p.P120S P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000359949.7_Missense_Mutation_p.P136S|P2RX4_ENST00000541532.1_Missense_Mutation_p.P120S|P2RX4_ENST00000543171.1_Missense_Mutation_p.P19S NM_001261397.1|NM_001261398.1|NM_002560.2 NP_001248326.1|NP_001248327.1|NP_002551.2 Q99571 P2RX4_HUMAN purinergic receptor P2X, ligand-gated ion channel, 4 120 endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis cell junction|perinuclear region of cytoplasm cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TTTCCAGATTCCAGATGCGAC 0.627000 32 85 0 0 1 0 0 RERGL 79785 broad.mit.edu 37 12 18241859 18241859 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:18241859G>A ENST00000229002.2 - 3 293 c.87C>T c.(85-87)ttC>ttT p.F29F RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Silent_p.F28F|RERGL_ENST00000536890.1_Silent_p.F28F NM_024730.2 NP_079006.1 Q9H628 RERGL_HUMAN RERG/RAS-like 29 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 ATTCTCCAATGAATCGCTTAG 0.333000 17 31 0 0 1 0 0 MSL2 55167 broad.mit.edu 37 3 135870069 135870069 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:135870069G>A ENST00000309993.2 - 2 2386 c.1654C>T c.(1654-1656)Cca>Tca p.P552S MSL2_ENST00000434835.2_Missense_Mutation_p.P478S NM_018133.3 NP_060603.2 Q9HCI7 MSL2_HUMAN male-specific lethal 2 homolog (Drosophila) 552 histone H4-K16 acetylation MSL complex zinc ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 18 GTCGTTACTGGGGACCCTGTG 0.453000 32 49 0 0 1 0 0 OC90 729330 broad.mit.edu 37 8 133036883 133036883 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:133036883C>T ENST00000262283.5 - 18 2014 c.1915G>A c.(1915-1917)Gac>Aac p.D639N OC90_ENST00000603859.1_Missense_Mutation_p.D427N|OC90_ENST00000254627.3_Missense_Mutation_p.D427N|OC90_ENST00000443356.2_Missense_Mutation_p.D443N Q02509 OC90_HUMAN otoconin 90 443 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) TGCAGGCTGTCTTCACAGGCT 0.647000 14 7 0 0 1 0 0 CERS3 204219 broad.mit.edu 37 15 101042017 101042017 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:101042017C>T ENST00000284382.4 - 4 461 c.38G>A c.(37-39)aGa>aAa p.R13K CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Missense_Mutation_p.R13K|CERS3_ENST00000394113.1_Missense_Mutation_p.R13K NM_178842.3 NP_849164.2 Q8IU89 CERS3_HUMAN ceramide synthase 3 13 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity AAGCCAGAATCTTTCCAACCA 0.373000 48 22 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168845663 168845663 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:168845663C>T ENST00000464456.1 - 4 1435 c.235G>A c.(235-237)Gaa>Aaa p.E79K MECOM_ENST00000468789.1_Missense_Mutation_p.E79K|MECOM_ENST00000433243.2_Missense_Mutation_p.E79K|MECOM_ENST00000264674.3_Missense_Mutation_p.E143K|MECOM_ENST00000494292.1_Missense_Mutation_p.E267K|MECOM_ENST00000472280.1_Missense_Mutation_p.E79K|MECOM_ENST00000392736.3_Missense_Mutation_p.E79K|MECOM_ENST00000460814.1_Missense_Mutation_p.E79K NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TGGTCACATTCCTTACACTCC 0.393000 24 49 0 0 1 0 0 DCX 1641 broad.mit.edu 37 X 110654100 110654100 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:110654100C>T ENST00000338081.3 - 1 274 c.103G>A c.(103-105)Gaa>Aaa p.E35K DCX_ENST00000356915.2_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000496551.1_Intron|DCX_ENST00000488120.1_Intron|DCX_ENST00000371993.2_Intron NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 35 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 TGACAAAATTCCCCTTGAAGA 0.423000 43 25 0 0 1 0 0 OR52A1 23538 broad.mit.edu 37 11 5172968 5172968 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:5172968C>T ENST00000380367.1 - 2 1049 c.632G>A c.(631-633)gGa>gAa p.G211E OR52A1_ENST00000328942.1_Missense_Mutation_p.G211E Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 211 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGGTCAAATCCTGCTACAGT 0.423000 15 36 0 0 1 0 0 TBC1D32 221322 broad.mit.edu 37 6 121642895 121642895 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:121642895C>T ENST00000275159.6 - 2 200 c.201G>A c.(199-201)ttG>ttA p.L67L TBC1D32_ENST00000398212.2_Silent_p.L67L TBC1 domain family, member 32 TCATAGAACCCAAAGTGTTGC 0.353000 28 42 0 0 1 0 0 C2CD2 25966 broad.mit.edu 37 21 43325929 43325929 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr21:43325929G>A ENST00000380486.3 - 11 1577 c.1336C>T c.(1336-1338)Ccc>Tcc p.P446S C2CD2_ENST00000329623.7_Missense_Mutation_p.P291S NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 446 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 ACCTTGATGGGAGTCTTCACC 0.542000 9 15 0 0 1 0 0 GZF1 64412 broad.mit.edu 37 20 23350920 23350920 + Missense_Mutation SNP A A T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:23350920A>T ENST00000338121.5 + 6 2055 c.1978A>T c.(1978-1980)Atg>Ttg p.M660L GZF1_ENST00000377051.2_Missense_Mutation_p.M660L|GZF1_ENST00000544236.1_Missense_Mutation_p.M184L|GZF1_ENST00000542987.1_Missense_Mutation_p.M169L Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 660 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) TGTACCTACCATGCAGGAGAA 0.522000 17 21 0 0 1 0 0 NGFR 4804 broad.mit.edu 37 17 47587798 47587798 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:47587798G>A ENST00000172229.3 + 4 718 c.593G>A c.(592-594)cGg>cAg p.R198Q NGFR_ENST00000504201.1_Missense_Mutation_p.R104Q|RP5-1029K10.2_ENST00000514506.1_RNA NM_002507.3 NP_002498.1 P08138 TNR16_HUMAN nerve growth factor receptor 198 Ser/Thr-rich. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1) 17 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) TGGATTACACGGTCCACACCC 0.617000 19 41 0 0 1 0 0 DYDC2 84332 broad.mit.edu 37 10 82122260 82122260 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:82122260G>A ENST00000372199.1 + 4 659 c.61G>A c.(61-63)Gtg>Atg p.V21M DYDC2_ENST00000372197.1_Missense_Mutation_p.V21M|DYDC2_ENST00000256039.2_Missense_Mutation_p.V21M|DYDC2_ENST00000444807.2_Missense_Mutation_p.V21M|DYDC2_ENST00000372198.1_Missense_Mutation_p.V35M Q96IM9 DYDC2_HUMAN DPY30 domain containing 2 21 protein binding breast(1)|large_intestine(3)|lung(6)|skin(1) 11 Colorectal(32;0.229) ACTGGCAGAGGTGGCGAAGGT 0.478000 14 15 0 0 1 0 0 H3F3B 3021 broad.mit.edu 37 17 73774674 73774674 + Nonstop_Mutation SNP A A C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:73774674A>C ENST00000592643.1 - 4 451 c.340T>G c.(340-342)Tga>Gga p.*114G H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000589599.1_3'UTR|H3F3B_ENST00000254810.4_3'UTR|H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000586607.1_3'UTR|H3F3B_ENST00000587560.1_3'UTR P84243 H33_HUMAN H3 histone, family 3B (H3.3B) 0 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding large_intestine(1)|lung(4)|ovary(2)|skin(1) 8 all_cancers(13;1.5e-07) all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) AACTGCCTTCACTTAAGCTCT 0.393000 38 79 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226447193 226447193 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:226447193C>T ENST00000272907.6 + 4 1473 c.1060C>T c.(1060-1062)Ccg>Tcg p.P354S NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 354 Pro-rich. CGACGAGTCCCCGCTTACCCC 0.647000 8 16 0 0 1 0 0 TMEM192 201931 broad.mit.edu 37 4 166021932 166021932 + Missense_Mutation SNP A A C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:166021932A>C ENST00000306480.5 - 3 432 c.287T>G c.(286-288)aTa>aGa p.I96R TMEM192_ENST00000506087.1_Missense_Mutation_p.I92R NM_001100389.1 NP_001093859.1 Q8IY95 TM192_HUMAN transmembrane protein 192 96 Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 7 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0926) CCCAAGGATTATAACCGTCTG 0.383000 27 10 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23883308 23883308 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:23883308C>T ENST00000355349.3 - 38 5725 c.5563G>A c.(5563-5565)Gag>Aag p.E1855K NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1855 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTGTCCTCCTCCGTCTGGGGG 0.602000 17 27 0 0 1 0 0 PPP1R16A 84988 broad.mit.edu 37 8 145724155 145724155 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:145724155C>T ENST00000292539.4 + 3 1179 c.262C>T c.(262-264)Cgc>Tgc p.R88C PPP1R16A_ENST00000435887.1_Missense_Mutation_p.R88C|CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory subunit 16A 88 plasma membrane protein binding NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TTTTGCAGTCCGCCAGTTCCT 0.652000 4 37 0 0 1 0 0 AQP6 363 broad.mit.edu 37 12 50368136 50368136 + Translation_Start_Site SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:50368136G>A ENST00000551733.1 + 0 408 AQP6_ENST00000315520.5_Silent_p.A144A Q13520 AQP6_HUMAN aquaporin 6, kidney specific excretion|odontogenesis integral to plasma membrane|transport vesicle membrane anion channel activity|water channel activity endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2) 13 CTGGCCAGGCGGTGGCAGTGG 0.622000 OREG0021809 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 36 0 0 1 0 0 ZNF324B 388569 broad.mit.edu 37 19 58967343 58967343 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:58967343C>T ENST00000391696.1 + 3 1934 c.1002C>T c.(1000-1002)tcC>tcT p.S334S ZNF324B_ENST00000545523.1_Silent_p.S344S|ZNF324B_ENST00000336614.4_Silent_p.S344S Q6AW86 Z324B_HUMAN zinc finger protein 324B 344 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) TCCGCTGCTCCGAGTGCGGCA 0.687000 11 4 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57767106 57767106 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:57767106G>A ENST00000371030.2 + 1 1032 c.1032G>A c.(1030-1032)tcG>tcA p.S344S NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 344 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GCACCGACTCGGGGTACCTGT 0.736000 8 14 0 0 1 0 0 CTPS2 56474 broad.mit.edu 37 X 16627740 16627740 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:16627740G>A ENST00000443824.1 - 17 2358 c.1615C>T c.(1615-1617)Ccg>Tcg p.P539S CTPS2_ENST00000380241.3_Missense_Mutation_p.P539S|CTPS2_ENST00000359276.4_Missense_Mutation_p.P539S NM_001144002.1 NP_001137474.1 Q9NRF8 PYRG2_HUMAN CTP synthase 2 539 Glutamine amidotransferase type-1. glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Hepatocellular(33;0.0997) CCCAGATACGGAGGGGAAGGC 0.468000 14 22 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94137913 94137913 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:94137913G>A ENST00000282020.4 + 6 1072 c.814G>A c.(814-816)Gaa>Aaa p.E272K GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.E177K NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 272 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GGACGTACAGGAACTTGTAAG 0.388000 28 34 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93808435 93808435 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:93808435C>T ENST00000315765.9 + 9 1608 c.1600C>T c.(1600-1602)Ccc>Tcc p.P534S NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 534 Plastocyanin-like 3. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TGGTGATCCTCCCTGTCTGAC 0.502000 7 13 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23861779 23861779 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:23861779C>T ENST00000405093.3 - 25 3404 c.3334G>A c.(3334-3336)Gaa>Aaa p.E1112K MYH6_ENST00000356287.3_Missense_Mutation_p.E1112K NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1112 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) ACCTGGTTTTCCTTCAGTTTC 0.478000 62 85 0 0 1 0 0 NEK9 91754 broad.mit.edu 37 14 75555296 75555296 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:75555296G>A ENST00000238616.5 - 20 2649 c.2491C>T c.(2491-2493)Ctc>Ttc p.L831F NM_033116.4 NP_149107.4 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 831 Interaction with NEK6.|Pro/Ser/Thr-rich. cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00718) GCTGCACTGAGAGGAGATGGG 0.458000 OREG0022811 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 33 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113231323 113231323 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:113231323C>T ENST00000401783.2 - 17 3393 c.3057G>A c.(3055-3057)cgG>cgA p.R1019R SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.R1019R|SVEP1_ENST00000374469.1_Silent_p.R996R NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1019 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AGGATCCGATCCGGCAGCTTT 0.418000 17 15 0 0 1 0 0 VPS39 23339 broad.mit.edu 37 15 42455922 42455922 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:42455922G>A ENST00000318006.5 - 20 2193 c.2031C>T c.(2029-2031)ctC>ctT p.L677L VPS39_ENST00000348544.4_Silent_p.L688L NM_015289.2 NP_056104.2 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 homolog (S. cerevisiae) 688 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) GTTCTTCTAAGAGGCCTAGGA 0.498000 3 7 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138684595 138684595 + Nonsense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:138684595C>T ENST00000520602.1 - 19 2271 c.1986G>A c.(1984-1986)tgG>tgA p.W662* MCF2_ENST00000536274.1_Nonsense_Mutation_p.W563*|MCF2_ENST00000338585.6_Nonsense_Mutation_p.W618*|MCF2_ENST00000519895.1_Nonsense_Mutation_p.W678*|MCF2_ENST00000370578.4_Nonsense_Mutation_p.W747*|MCF2_ENST00000414978.1_Nonsense_Mutation_p.W662*|MCF2_ENST00000370573.4_Nonsense_Mutation_p.W602*|MCF2_ENST00000370576.4_Nonsense_Mutation_p.W602* P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 602 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) AATACTTCCTCCAAATTGTTT 0.289000 54 21 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150348569 150348569 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:150348569G>A ENST00000218316.3 + 2 583 c.514G>A c.(514-516)Gat>Aat p.D172N NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 172 cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CATCGAGTACGATCCTCGCAC 0.527000 35 13 0 0 1 0 0 CLEC4C 170482 broad.mit.edu 37 12 7883451 7883451 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:7883451G>A ENST00000542353.1 - 6 929 c.439C>T c.(439-441)Cca>Tca p.P147S CLEC4C_ENST00000354629.5_Missense_Mutation_p.P116S|CLEC4C_ENST00000540085.1_Missense_Mutation_p.P116S|CLEC4C_ENST00000360345.3_Missense_Mutation_p.P147S NM_130441.2 NP_569708.1 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C 147 C-type lectin. innate immune response integral to membrane sugar binding autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Kidney(36;0.0915) CGACCCCCTGGATCTGACAGC 0.443000 27 38 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18875207 18875207 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:18875207G>A ENST00000406451.3 + 20 2725 c.2575G>A c.(2575-2577)Gag>Aag p.E859K HDAC9_ENST00000441542.2_Missense_Mutation_p.E862K|HDAC9_ENST00000432645.2_Missense_Mutation_p.E859K|HDAC9_ENST00000401921.1_Missense_Mutation_p.E818K NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 859 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) AGCCCCAAATGAGGTTCGGTT 0.443000 13 20 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115997652 115997652 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:115997652G>A ENST00000264363.2 - 2 1219 c.541C>T c.(541-543)Ccg>Tcg p.P181S NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 181 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AGGTTTAACGGAAAGCCTTTT 0.378000 18 24 0 0 1 0 0 ABTB1 80325 broad.mit.edu 37 3 127396527 127396527 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:127396527C>T ENST00000468137.1 + 9 1060 c.444C>T c.(442-444)ttC>ttT p.F148F ABTB1_ENST00000393363.3_Silent_p.F148F|ABTB1_ENST00000232744.8_Silent_p.F290F|ABTB1_ENST00000453791.2_Silent_p.F148F Q969K4 ABTB1_HUMAN ankyrin repeat and BTB (POZ) domain containing 1 290 BTB 1. cytoplasm|nucleolus|plasma membrane translation elongation factor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 AGGCCTTTTTCTGTGGCCGCA 0.682000 7 6 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43304963 43304963 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:43304963C>T ENST00000361428.2 - 10 6850 c.6773G>A c.(6772-6774)gGa>gAa p.G2258E ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 2258 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TTCAGGCATTCCCTGAGGGAC 0.468000 14 17 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36597009 36597009 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:36597009G>A ENST00000299440.5 + 2 2267 c.2155G>A c.(2155-2157)Gaa>Aaa p.E719K NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 719 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) GCGGGAAGTGGAAGGCCTCGA 0.488000 Familial Hemophagocytic Lymphohistiocytosis 15 23 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34962098 34962098 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:34962098G>A ENST00000329357.5 + 1 1186 c.1150G>A c.(1150-1152)Gaa>Aaa p.E384K NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 384 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CCATTTTTGGGAATCCTGTCC 0.557000 23 25 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807519 20807519 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:20807519C>T ENST00000601440.1 - 4 1310 c.1164G>A c.(1162-1164)aaG>aaA p.K388K CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 TATGAATTATCTTATGCGTAG 0.388000 36 60 0 0 1 0 0 ALS2CR11 151254 broad.mit.edu 37 2 202352604 202352604 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:202352604C>T ENST00000439140.1 - 16 5238 c.5194G>A c.(5194-5196)Gat>Aat p.D1732N ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.D535N|ALS2CR11_ENST00000482942.1_5'UTR NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 535 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 TCATGTAAATCCTCAAATTTA 0.299000 19 35 0 0 1 0 0 TAF4 6874 broad.mit.edu 37 20 60578913 60578913 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:60578913G>A ENST00000252996.3 - 8 2244 c.2245C>T c.(2245-2247)Cca>Tca p.P749S TAF4_ENST00000488539.1_5'UTR NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 749 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) AGGGCTCCTGGCTTCGGAGGC 0.652000 16 23 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75683631 75683631 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:75683631G>A ENST00000370855.5 - 18 1657 c.1544C>T c.(1543-1545)tCc>tTc p.S515F SLC44A5_ENST00000535611.1_Missense_Mutation_p.S385F|SLC44A5_ENST00000370859.3_Missense_Mutation_p.S515F NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 515 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 AAATGCTAGGGATCCTGTGTG 0.294000 19 21 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138030231 138030231 + Splice_Site SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:138030231C>T ENST00000409968.1 + 11 2573 c.2396_splice c.e11+1 p.R799_splice THSD7B_ENST00000272643.3_Splice_Site_p.R799_splice|THSD7B_ENST00000413152.2_Splice_Site_p.R768_splice|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TCCTGTATATCGGCAAGTAGT 0.373000 6 8 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121638051 121638051 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:121638051G>A ENST00000393386.2 + 10 1642 c.1231G>A c.(1231-1233)Gat>Aat p.D411N PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D411N NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 411 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity p.D411Y(4) NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 CATGCCTACTGATAATCCTGG 0.348000 12 53 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105815695 105815695 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:105815695G>A ENST00000353479.5 - 18 1822 c.1532C>T c.(1531-1533)cCc>cTc p.P511L COL17A1_ENST00000480127.1_5'UTR|COL17A1_ENST00000369733.3_Missense_Mutation_p.P511L NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 511 Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GTCCCCATAGGGCAGTATGCT 0.587000 43 63 0 0 1 0 0 IRF2BPL 64207 broad.mit.edu 37 14 77492271 77492271 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:77492271G>A ENST00000238647.3 - 1 2763 c.1865C>T c.(1864-1866)tCc>tTc p.S622F NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 622 Pro-rich. nucleus endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 GGCCATAGGGGACGGACCGTT 0.706000 6 7 0 0 1 0 0 CACNG5 27091 broad.mit.edu 37 17 64881234 64881234 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:64881234C>T ENST00000533854.1 + 6 942 c.705C>T c.(703-705)gaC>gaT p.D235D CACNG5_ENST00000307139.3_Silent_p.D235D Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 235 SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) TACACCCAGACGCCTGGGTCA 0.637000 20 36 0 0 1 0 0 AKAP4 8852 broad.mit.edu 37 X 49958028 49958028 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:49958028G>A ENST00000376056.2 - 5 1459 c.1309C>T c.(1309-1311)Ctg>Ttg p.L437L AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Silent_p.L446L|AKAP4_ENST00000376064.3_Silent_p.L437L|AKAP4_ENST00000376058.2_Intron Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 446 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) GCATATGACAGACTCTGAGAC 0.458000 25 45 0 0 1 0 0 ABCB9 23457 broad.mit.edu 37 12 123425464 123425464 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:123425464G>A ENST00000542678.1 - 8 4297 c.1459C>T c.(1459-1461)Ccg>Tcg p.P487S ABCB9_ENST00000442833.2_Missense_Mutation_p.P487S|ABCB9_ENST00000442028.2_Missense_Mutation_p.P487S|ABCB9_ENST00000280560.8_Missense_Mutation_p.P487S|ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000392439.3_Missense_Mutation_p.P487S|ABCB9_ENST00000346530.5_Missense_Mutation_p.P444S|ABCB9_ENST00000540285.1_Intron|ABCB9_ENST00000344275.7_Missense_Mutation_p.P487S Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 9 487 positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) ACCATGGTCGGCTGCCGGTCG 0.642000 3 8 0 0 1 0 0 LRFN1 57622 broad.mit.edu 37 19 39805578 39805578 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:39805578G>A ENST00000248668.4 - 1 398 c.399C>T c.(397-399)ctC>ctT p.L133L CTC-246B18.8_ENST00000601911.1_RNA NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 133 cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CCAGGCCGCGGAGCTGGTCGC 0.711000 6 9 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24581168 24581168 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:24581168C>T ENST00000319715.4 + 17 3589 c.3157C>T c.(3157-3159)Cct>Tct p.P1053S RBBP6_ENST00000348022.2_Missense_Mutation_p.P1019S|RBBP6_ENST00000381039.3_Intron NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 1053 Interaction with RB1 (By similarity). protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) TGAGAGATCTCCTCGATCTGA 0.398000 15 27 0 0 1 0 0 DYRK3 8444 broad.mit.edu 37 1 206821315 206821315 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:206821315G>A ENST00000367106.1 + 4 1185 c.712G>A c.(712-714)Gag>Aag p.E238K DYRK3_ENST00000367108.3_Missense_Mutation_p.E238K|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Missense_Mutation_p.E258K O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 258 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) CCGGATTTTGGAGCATCTTAA 0.448000 38 52 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166848493 166848493 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:166848493G>A ENST00000423058.2 - 26 5309 c.5292C>T c.(5290-5292)ttC>ttT p.F1764F AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Silent_p.F1736F|SCN1A_ENST00000303395.4_Silent_p.F1764F|SCN1A_ENST00000375405.3_Silent_p.F1753F NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1764 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TGACAAAAAAGAAAATTCCAA 0.453000 44 82 0 0 1 0 0 OBP2A 29991 broad.mit.edu 37 9 138440507 138440507 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:138440507C>T ENST00000340780.3 + 5 449 c.407C>T c.(406-408)gCc>gTc p.A136V OBP2A_ENST00000342114.4_Silent_p.G91G|OBP2A_ENST00000539850.1_Intron|OBP2A_ENST00000371776.1_Intron Q9NY56 OBP2A_HUMAN odorant binding protein 2A 0 response to stimulus|sensory perception of smell extracellular region odorant binding|transporter activity endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) CCCTGCAGGGCCGTGCCGCTG 0.612000 5 0 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115997651 115997651 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:115997651G>A ENST00000264363.2 - 2 1220 c.542C>T c.(541-543)cCg>cTg p.P181L NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 181 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AAGGTTTAACGGAAAGCCTTT 0.378000 18 25 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36874421 36874421 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:36874421G>A ENST00000429976.2 - 21 6768 c.6521C>T c.(6520-6522)gCc>gTc p.A2174V TRANK1_ENST00000428977.2_Missense_Mutation_p.A1624V|TRANK1_ENST00000301807.6_Missense_Mutation_p.A1624V O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2174 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TAAACACTTGGCTTCACAACG 0.423000 10 5 0 0 1 0 0 MYOZ3 91977 broad.mit.edu 37 5 150051332 150051332 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:150051332G>A ENST00000297130.4 + 5 485 c.286G>A c.(286-288)Ggc>Agc p.G96S MYOZ3_ENST00000517768.1_Missense_Mutation_p.G96S|CTC-345K18.2_ENST00000511626.2_RNA NM_001122853.2|NM_133371.4 NP_001116325.1|NP_588612.2 Q8TDC0 MYOZ3_HUMAN myozenin 3 96 Binding to FLNC. sarcomere protein binding large_intestine(2)|lung(1)|skin(2) 5 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAATGCCAATGGCCCTGAGGG 0.731000 12 22 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6120828 6120828 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:6120828G>A ENST00000261405.5 - 34 6051 c.5797C>T c.(5797-5799)Cct>Tct p.P1933S NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1933 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) ACTTTAACAGGGGACTGGCTG 0.602000 8 12 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32633017 32633017 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:32633017G>A ENST00000242310.4 - 1 2650 c.2561C>T c.(2560-2562)cCt>cTt p.P854L NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 854 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TGAATGGGAAGGAAAGGCTTT 0.438000 19 42 0 0 1 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110032593 110032593 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:110032593C>T ENST00000369870.3 + 8 1094 c.1079C>T c.(1078-1080)cCc>cTc p.P360L NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 360 breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) GATGAAGGCCCCTGTGGTGGT 0.637000 47 88 0 0 1 0 0 CHDC2 286464 broad.mit.edu 37 X 36162702 36162702 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:36162702G>A ENST00000378660.1 + 11 1473 c.1285G>A c.(1285-1287)Gag>Aag p.E429K CHDC2_ENST00000313548.4_Missense_Mutation_p.E429K calponin homology domain containing 2 gtttccaaaggagatggatgc 0.468000 21 23 0 0 1 0 0 AFF4 27125 broad.mit.edu 37 5 132232751 132232751 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:132232751G>A ENST00000265343.5 - 11 1950 c.1571C>T c.(1570-1572)aCg>aTg p.T524M AFF4_ENST00000378595.3_Missense_Mutation_p.T524M NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 524 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGCGGAACTCGTTTCTTTAGG 0.507000 8 74 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56386357 56386357 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:56386357C>T ENST00000355701.3 - 22 5146 c.4276G>A c.(4276-4278)Gaa>Aaa p.E1426K BZRAP1_ENST00000343736.4_Missense_Mutation_p.E1426K|BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1366K NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1426 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGCAGTGTTCTCGGGGATCT 0.662000 25 128 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67062009 67062009 + Missense_Mutation SNP C C T rs140278864 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:67062009C>T ENST00000315962.4 + 5 1106 c.733C>T c.(733-735)Cgt>Tgt p.R245C TRIM55_ENST00000276573.7_Missense_Mutation_p.R245C|TRIM55_ENST00000353317.5_Missense_Mutation_p.R245C|TRIM55_ENST00000350034.4_Intron NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 245 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) GGAACATGTCCGTGCTCTGAT 0.418000 14 60 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 21954063 21954063 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:21954063C>T ENST00000261200.4 - 38 4564 c.4565G>A c.(4564-4566)gGa>gAa p.G1522E NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1522 ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.G1522E(1) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TAAAATATTTCCTCGCTTCAT 0.408000 15 22 0 0 1 0 0 UBE3B 89910 broad.mit.edu 37 12 109940906 109940906 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:109940906C>T ENST00000342494.3 + 14 1956 c.1361C>T c.(1360-1362)tCt>tTt p.S454F UBE3B_ENST00000434735.2_Missense_Mutation_p.S454F|UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.S454F NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 454 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 CGGGTCGACTCTGCAGAAGTC 0.517000 25 23 0 0 1 0 0 LRP6 4040 broad.mit.edu 37 12 12317359 12317359 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:12317359G>A ENST00000261349.4 - 9 1976 c.1900C>T c.(1900-1902)Ctt>Ttt p.L634F LRP6_ENST00000543091.1_Missense_Mutation_p.L634F NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 634 Beta-propeller 3. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) GAAAACAAAAGGAAAGCCTCT 0.453000 22 39 0 0 1 0 0 HSCB 150274 broad.mit.edu 37 22 29139878 29139878 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr22:29139878C>T ENST00000216027.3 + 2 310 c.245C>T c.(244-246)tCc>tTc p.S82F HSCB_ENST00000398941.2_Missense_Mutation_p.S82F|HSCB_ENST00000495977.1_3'UTR NM_172002.3 NP_741999.3 Q8IWL3 HSC20_HUMAN HscB mitochondrial iron-sulfur cluster co-chaperone 82 J. iron-sulfur cluster assembly|protein folding mitochondrion chaperone binding|heat shock protein binding|metal ion binding kidney(1)|lung(2)|skin(1) 4 AGCAACCGTTCCTTCAGAGTT 0.448000 35 36 0 0 1 0 0 LRRC61 65999 broad.mit.edu 37 7 150034381 150034381 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:150034381C>T ENST00000359623.4 + 3 1019 c.431C>T c.(430-432)cCc>cTc p.P144L LRRC61_ENST00000323078.7_Missense_Mutation_p.P144L|LRRC61_ENST00000493307.1_Missense_Mutation_p.P144L NM_001142928.1 NP_001136400.1 Q9BV99 LRC61_HUMAN leucine rich repeat containing 61 144 LRRCT. endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(82;0.011) TGTGCCAACCCCTCCTACTGG 0.652000 13 33 0 0 1 0 0 TJP1 7082 broad.mit.edu 37 15 29997826 29997826 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:29997826G>A ENST00000346128.6 - 26 5448 c.4974C>T c.(4972-4974)atC>atT p.I1658I TJP1_ENST00000400011.2_Silent_p.I1582I|TJP1_ENST00000545208.2_Silent_p.I1578I|TJP1_ENST00000356107.6_Silent_p.I1658I NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 1658 ZU5. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) CTCCTTGAGGGATAATTATAC 0.458000 16 59 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 32 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 6903560 6903560 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:6903560C>T ENST00000486284.1 + 1 759 c.485C>T c.(484-486)tCc>tTc p.S162F GRM7_ENST00000389336.4_Missense_Mutation_p.S162F|GRM7_ENST00000357716.4_Missense_Mutation_p.S162F|GRM7_ENST00000403881.1_Missense_Mutation_p.S162F|GRM7_ENST00000402647.2_Missense_Mutation_p.S162F NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 162 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) AGTTCGGTCTCCATCATGGTA 0.602000 15 25 0 0 1 0 0 BMP2 650 broad.mit.edu 37 20 6759583 6759583 + Missense_Mutation SNP G G C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:6759583G>C ENST00000378827.4 + 3 2257 c.1038G>C c.(1036-1038)caG>caC p.Q346H NM_001200.2 NP_001191.1 P12643 BMP2_HUMAN bone morphogenetic protein 2 346 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 13 Simvastatin(DB00641) CCATTGTTCAGACGTTGGTCA 0.493000 13 17 0 0 1 0 0 LMAN2 10960 broad.mit.edu 37 5 176764412 176764412 + Silent SNP G G C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:176764412G>C ENST00000303127.7 - 5 831 c.627C>G c.(625-627)cgC>cgG p.R209R LMAN2_ENST00000515209.1_Silent_p.R209R NM_006816.2 NP_006807.1 Q12907 LMAN2_HUMAN lectin, mannose-binding 2 209 L-type lectin-like. protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane metal ion binding|sugar binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGTCGTGATCGCGGTTGCGGA 0.662000 9 17 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87196230 87196230 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:87196230G>A ENST00000265724.3 - 7 818 c.401C>T c.(400-402)tCa>tTa p.S134L ABCB1_ENST00000543898.1_Intron NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 134 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GCACCAAAATGAAACCTGAAT 0.418000 14 27 0 0 1 0 0 MARCH10 162333 broad.mit.edu 37 17 60814014 60814014 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:60814014G>A ENST00000544856.2 - 7 1590 c.1212C>T c.(1210-1212)acC>acT p.T404T RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Silent_p.T405T|MARCH10_ENST00000583600.1_Silent_p.T443T|MARCH10_ENST00000311269.5_Silent_p.T405T|RP11-156L14.1_ENST00000582564.1_RNA Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 405 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 GCTCGGATTTGGTGTCCCACG 0.502000 23 48 0 0 1 0 0 VNN3 55350 broad.mit.edu 37 6 133048110 133048110 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:133048110C>T ENST00000414302.2 - 3 385 c.386G>A c.(385-387)aGg>aAg p.R129K VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000427187.2_Intron|VNN3_ENST00000367927.5_Silent_p.K193K|VNN3_ENST00000275223.3_Intron|VNN3_ENST00000519686.2_Intron|VNN3_ENST00000392393.3_Intron|VNN3_ENST00000417437.2_Intron|VNN3_ENST00000207771.3_Silent_p.K193K|VNN3_ENST00000450865.2_Intron|VNN3_ENST00000509351.1_Intron|VNN3_ENST00000423615.2_Intron vanin 3 cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168) GTTCTGAATCCTTGGGGAAAT 0.363000 8 6 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171243660 171243660 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:171243660C>T ENST00000334231.6 + 14 1446 c.1446C>T c.(1444-1446)tcC>tcT p.S482S MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Silent_p.S473S|MYO3B_ENST00000409044.3_Silent_p.S473S Q8WXR4 MYO3B_HUMAN myosin IIIB 473 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 AAGTCAACTCCCTGGTGGAAG 0.443000 13 25 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 93518536 93518536 + Splice_Site SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr13:93518536G>A ENST00000377067.3 + 8 1935 c.1561_splice c.e8-1 p.W521_splice NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 521 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CCTCTACAGGGATGCCAGATG 0.428000 49 9 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73812150 73812150 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:73812150G>A ENST00000332687.6 - 4 1218 c.1000C>T c.(1000-1002)Cgg>Tgg p.R334W RLIM_ENST00000349225.2_Missense_Mutation_p.R334W NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 334 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding p.R334W(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCTCTCTGCCGATATTCTCCA 0.473000 14 5 0 0 1 0 0 CCDC70 83446 broad.mit.edu 37 13 52439656 52439656 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr13:52439656G>A ENST00000242819.4 + 2 438 c.142G>A c.(142-144)Gaa>Aaa p.E48K NM_031290.2 NP_112580.2 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 48 extracellular region|plasma membrane breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1) 15 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) GCTGCAGGAGGAAAAGGCTTT 0.507000 66 9 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73071486 73071486 + Missense_Mutation SNP C C G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:73071486C>G ENST00000263674.3 + 11 4678 c.4328C>G c.(4327-4329)cCc>cGc p.P1443R NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1443 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 GCCACTCGGCCCGAGGGCACC 0.617000 41 70 0 0 1 0 0 MIR1179 100302235 broad.mit.edu 37 15 89151351 89151351 + RNA SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:89151351G>A ENST00000408703.1 + 0 14 NR_031590.1 TGGAAAGGAAGAAGCATTCTT 0.378000 36 62 0 0 1 0 0 REXO4 57109 broad.mit.edu 37 9 136282787 136282787 + Missense_Mutation SNP G G C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:136282787G>C ENST00000371942.3 - 1 377 c.178C>G c.(178-180)Cca>Gca p.P60A REXO4_ENST00000478037.1_5'UTR|ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000371935.2_Missense_Mutation_p.P60A NM_020385.2 NP_065118.2 Q9GZR2 REXO4_HUMAN REX4, RNA exonuclease 4 homolog (S. cerevisiae) 60 nucleolus exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05) GGTGCCTTTGGAGGTCGCACC 0.567000 49 23 0 0 1 0 0 PHACTR4 65979 broad.mit.edu 37 1 28793028 28793028 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:28793028C>T ENST00000373839.3 + 6 833 c.572C>T c.(571-573)tCc>tTc p.S191F PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.S201F NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 191 actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) GATGCCACTTCCTCTGGCGGC 0.522000 20 35 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36874203 36874203 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:36874203C>T ENST00000429976.2 - 21 6986 c.6739G>A c.(6739-6741)Gaa>Aaa p.E2247K TRANK1_ENST00000428977.2_Missense_Mutation_p.E1697K|TRANK1_ENST00000301807.6_Missense_Mutation_p.E1697K O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2247 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TTGAGGATTTCTTTGCATGCC 0.433000 21 30 0 0 1 0 0 AQP8 343 broad.mit.edu 37 16 25235700 25235700 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:25235700G>A ENST00000219660.5 + 4 530 c.405G>A c.(403-405)gaG>gaA p.E135E AQP8_ENST00000566125.1_Silent_p.E129E NM_001169.2 NP_001160.2 O94778 AQP8_HUMAN aquaporin 8 135 cellular response to cAMP integral to plasma membrane water channel activity NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 16 GBM - Glioblastoma multiforme(48;0.044) GTCCTGAGGAGAGGTTCTGGA 0.607000 6 11 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121207085 121207085 + Nonsense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:121207085G>A ENST00000264233.5 - 16 4821 c.4693C>T c.(4693-4695)Cag>Tag p.Q1565* NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1565 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TCAACCATCTGAACAGAATCC 0.343000 DNA polymerases (catalytic subunits) 20 27 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50089806 50089806 + Splice_Site SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:50089806G>A ENST00000376042.1 + 10 4108 c.3810_splice c.e10+1 p.R1270_splice CCNB3_ENST00000276014.7_Splice_Site_p.R1270_splice|CCNB3_ENST00000376038.1_Splice_Site_p.R166_splice|CCNB3_ENST00000348603.2_Splice_Site_p.R166_splice Q8WWL7 CCNB3_HUMAN cyclin B3 1270 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) GATATGCTAGGGTAAGAGAGA 0.463000 5 10 0 0 1 0 0 ZNF488 118738 broad.mit.edu 37 10 48371278 48371278 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:48371278C>T ENST00000395702.2 + 2 973 c.746C>T c.(745-747)cCc>cTc p.P249L ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.P142L Q96MN9 ZN488_HUMAN zinc finger protein 488 249 P -> S (in dbSNP:rs3814160). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 GCCCAGGTGCCCCCACCCTCA 0.592000 20 16 0 0 1 0 0 ZNF101 94039 broad.mit.edu 37 19 19790846 19790846 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:19790846C>T ENST00000592502.1 + 4 1158 c.1048C>T c.(1048-1050)Ccc>Tcc p.P350S ZNF101_ENST00000415784.2_Missense_Mutation_p.P230S Q8IZC7 ZN101_HUMAN zinc finger protein 101 350 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1) 17 CTTCAATTATCCCAGTTGTTT 0.408000 33 29 0 0 1 0 0 SDR39U1 56948 broad.mit.edu 37 14 24911630 24911630 + Silent SNP G G T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:24911630G>T ENST00000399395.3 - 2 78 c.45C>A c.(43-45)gcC>gcA p.A15A SDR39U1_ENST00000555365.1_5'UTR|SDR39U1_ENST00000554698.1_5'UTR|SDR39U1_ENST00000553930.1_5'UTR|SDR39U1_ENST00000538105.2_5'UTR NM_020195.2 NP_064580.2 Q9NRG7 D39U1_HUMAN short chain dehydrogenase/reductase family 39U, member 1 0 binding NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1) 5 GCTGGGTTAGGGCTGTCCCAA 0.607000 3 4 6.4e-05 6.44041e-05 1 1 0 IRF4 3662 broad.mit.edu 37 6 407524 407524 + Missense_Mutation SNP T T C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:407524T>C ENST00000380956.4 + 9 1408 c.1282T>C c.(1282-1284)Tac>Cac p.Y428H NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 428 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) CCTGAGGGGCTACGATTTACC 0.368000 T IGH@ MM 10 40 0 0 1 0 0 PDIA5 10954 broad.mit.edu 37 3 122825641 122825641 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:122825641G>A ENST00000316218.7 + 6 528 c.433G>A c.(433-435)Gag>Aag p.E145K NM_006810.3 NP_006801.1 Q14554 PDIA5_HUMAN protein disulfide isomerase family A, member 5 145 Thioredoxin 1. cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 21 GBM - Glioblastoma multiforme(114;0.0427) CCCACTGTGGGAGGAAGATCC 0.478000 18 34 0 0 1 0 0 HMGCS1 3157 broad.mit.edu 37 5 43298699 43298699 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:43298699G>A ENST00000325110.6 - 3 575 c.369C>T c.(367-369)atC>atT p.I123I HMGCS1_ENST00000433297.2_Silent_p.I123I NM_001098272.2 NP_001091742.1 Q01581 HMCS1_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 123 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1) 15 TAGTTGTGTCGATTCCTTCTA 0.428000 26 34 0 0 1 0 0 VPS33A 65082 broad.mit.edu 37 12 122735588 122735588 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:122735588G>A ENST00000267199.4 - 5 654 c.542C>T c.(541-543)aCc>aTc p.T181I RP11-512M8.5_ENST00000535844.1_Intron NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 181 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) AGCTTGCAGGGTCATCAGCCC 0.582000 20 33 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16610839 16610839 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:16610839G>A ENST00000443444.2 + 4 861 c.721G>A c.(721-723)Gaa>Aaa p.E241K CCDC144A_ENST00000456009.1_Missense_Mutation_p.E241K|CCDC144A_ENST00000436374.1_3'UTR|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.E241K|CCDC144A_ENST00000360524.8_Missense_Mutation_p.E241K|CCDC144A_ENST00000340621.5_Missense_Mutation_p.E240K|CCDC144A_ENST00000399273.1_Missense_Mutation_p.E241K A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 241 TAAAGGATGCGAAAATAAGCA 0.348000 3 10 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34074184 34074184 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:34074184G>A ENST00000254466.6 - 5 963 c.936C>T c.(934-936)agC>agT p.S312S GAS2L2_ENST00000587565.1_Silent_p.S296S NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 312 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TCTGTGAGCGGCTGATGGTCA 0.627000 39 63 0 0 1 0 0 GANAB 23193 broad.mit.edu 37 11 62393362 62393362 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:62393362G>A ENST00000346178.4 - 25 2841 c.2826C>T c.(2824-2826)gaC>gaT p.D942D GANAB_ENST00000540933.1_Silent_p.D823D|GANAB_ENST00000356638.3_Silent_p.D920D|GANAB_ENST00000534779.1_Silent_p.D828D NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 920 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 AGGTCTCAGGGTCATGCTGGA 0.507000 11 20 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167254679 167254679 + Missense_Mutation SNP G G C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:167254679G>C ENST00000308378.3 - 7 1182 c.877C>G c.(877-879)Cct>Gct p.P293A WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.P357A|WDR49_ENST00000476376.1_Missense_Mutation_p.P118A NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 293 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 GTTTGTGGAGGTAAAAACGCA 0.388000 7 14 0 0 1 0 0 SLC35F2 54733 broad.mit.edu 37 11 107663440 107663440 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:107663440C>T ENST00000525071.1 - 11 1607 c.1019G>A c.(1018-1020)cGg>cAg p.R340Q SLC35F2_ENST00000265836.7_Silent_p.P194P|SLC35F2_ENST00000429869.1_Silent_p.P342P|SLC35F2_ENST00000525815.1_Silent_p.P342P|SLC35F2_ENST00000375682.4_Silent_p.P295P Q8IXU6 S35F2_HUMAN solute carrier family 35, member F2 0 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217) TGCTTTCAGCCGGCTCGGCCG 0.557000 4 14 0 0 1 0 0 SPAG4 6676 broad.mit.edu 37 20 34207659 34207659 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:34207659C>T ENST00000374273.3 + 10 1180 c.1068C>T c.(1066-1068)ttC>ttT p.F356F NM_003116.1 NP_003107.1 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 356 SUN. spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) CCCGCGATTTCGCGGTCTTTG 0.617000 16 19 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69351797 69351797 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:69351797C>T ENST00000337103.4 + 1 1650 c.58C>T c.(58-60)Ctt>Ttt p.L20F C8orf34_ENST00000348340.2_Missense_Mutation_p.L45F|C8orf34_ENST00000518698.1_Missense_Mutation_p.L131F|C8orf34_ENST00000539993.1_Missense_Mutation_p.L45F|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000523686.1_Missense_Mutation_p.L45F Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 45 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CATTGACCATCTTCAGTCTAA 0.388000 22 36 0 0 1 0 0 FGF7 2252 broad.mit.edu 37 15 49716767 49716767 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:49716767G>A ENST00000267843.4 + 2 884 c.273G>A c.(271-273)atG>atA p.M91I FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560270.1_Missense_Mutation_p.M91I NM_002009.3 NP_002000.1 P21781 FGF7_HUMAN fibroblast growth factor 7 91 actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth chemoattractant activity|growth factor activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_lung(180;0.00391) all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05) Palifermin(DB00039) CCCAAGAGATGAAGAATAATT 0.378000 9 20 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168106668 168106668 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:168106668G>A ENST00000409195.1 + 9 8855 c.8766G>A c.(8764-8766)caG>caA p.Q2922Q XIRP2_ENST00000295237.9_Silent_p.Q2922Q|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.Q2700Q|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2747 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGATTACACAGAACAAATCTT 0.373000 23 31 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43234015 43234015 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:43234015C>T ENST00000327495.5 - 4 1087 c.903G>A c.(901-903)acG>acA p.T301T PSG3_ENST00000595140.1_Silent_p.T301T NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 301 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) TTTCATTTCTCGTGACACTGG 0.483000 46 115 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108112956 108112956 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:108112956G>A ENST00000273353.3 - 37 5297 c.5241C>T c.(5239-5241)gcC>gcT p.A1747A NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1747 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TCTGCATCCGGGCAACATCAG 0.488000 30 32 0 0 1 0 0 VWA7 80737 broad.mit.edu 37 6 31735178 31735178 + Nonsense_Mutation SNP G G A rs138415590 by1000genomes TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:31735178G>A ENST00000375686.3 - 12 1987 c.1750C>T c.(1750-1752)Cag>Tag p.Q584* VWA7_ENST00000447450.1_Nonsense_Mutation_p.Q584*|VWA7_ENST00000375688.4_Nonsense_Mutation_p.Q584*|VWA7_ENST00000467576.1_5'UTR NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 584 extracellular region GCTGTGACCTGGATCTCCCAG 0.602000 35 19 0 0 1 0 0 HDAC1 3065 broad.mit.edu 37 1 32792652 32792652 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:32792652C>T ENST00000373548.3 + 5 552 c.468C>T c.(466-468)atC>atT p.I156I HDAC1_ENST00000373541.2_5'UTR NM_004964.2 NP_004955.2 Q13547 HDAC1_HUMAN histone deacetylase 1 156 Histone deacetylase. anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytosol|NuRD complex|Sin3 complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity p.I156I(1) NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113) KIRC - Kidney renal clear cell carcinoma(1967;0.138) Vorinostat(DB02546) TCAATGATATCGTCTTGGCCA 0.532000 23 33 0 0 1 0 0 FMNL1 752 broad.mit.edu 37 17 43323270 43323270 + Nonsense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:43323270G>A ENST00000331495.3 + 24 3356 c.3020G>A c.(3019-3021)tGg>tAg p.W1007* CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000587489.1_Nonsense_Mutation_p.W585*|FMNL1_ENST00000328118.3_Nonsense_Mutation_p.W1007* NM_005892.3 NP_005883.2 O95466 FMNL_HUMAN formin-like 1 1007 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 GTGGAACAGTGGAAAAAAGAA 0.627000 8 12 0 0 1 0 0 AGAP3 116988 broad.mit.edu 37 7 150839049 150839049 + Silent SNP T T C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:150839049T>C ENST00000397238.2 + 14 1869 c.1869T>C c.(1867-1869)gcT>gcC p.A623A AGAP3_ENST00000463381.1_Silent_p.A292A NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 587 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 ACTTCGAGGCTTCAACGGCGG 0.612000 34 43 0 0 1 0 0 ZNF384 171017 broad.mit.edu 37 12 6776966 6776966 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:6776966G>A ENST00000396795.1 - 9 1962 c.1465C>T c.(1465-1467)Ccg>Tcg p.P489S ZNF384_ENST00000361959.3_Missense_Mutation_p.P550S|ZNF384_ENST00000355772.4_Missense_Mutation_p.P434S|ZNF384_ENST00000319770.3_Missense_Mutation_p.P473S|ZNF384_ENST00000396799.2_Missense_Mutation_p.P489S|ZNF384_ENST00000396801.3_Missense_Mutation_p.P550S|RP4-761J14.8_ENST00000589924.1_RNA Q8TF68 ZN384_HUMAN zinc finger protein 384 550 Ala-rich.|Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 18 GTCTTATACGGGGTCAGGTCA 0.622000 T """EWSR1, TAF15 """ ALL 51 72 0 0 1 0 0 GPR115 221393 broad.mit.edu 37 6 47682527 47682527 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:47682527G>A ENST00000283303.2 + 6 1804 c.1546G>A c.(1546-1548)Gtc>Atc p.V516I GPR115_ENST00000327753.3_Missense_Mutation_p.V516I|GPR115_ENST00000371220.1_Missense_Mutation_p.V573I NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 516 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 CCGAATGATGGTCATTGGCTT 0.448000 45 61 0 0 1 0 0 WDR86 349136 broad.mit.edu 37 7 151097258 151097258 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:151097258G>A ENST00000334493.6 - 2 663 c.233C>T c.(232-234)aCc>aTc p.T78I WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000469830.2_Missense_Mutation_p.T78I NM_198285.2 NP_938026.2 Q86TI4 WDR86_HUMAN WD repeat domain 86 78 breast(1)|endometrium(2)|kidney(1)|lung(6) 10 OV - Ovarian serous cystadenocarcinoma(82;0.00419) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTCCTGATGGTGCAGTCGGC 0.612000 9 8 0 0 1 0 0 SLC35G5 83650 broad.mit.edu 37 8 11189032 11189032 + Silent SNP C C T rs145037786 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:11189032C>T ENST00000382435.4 + 1 636 c.417C>T c.(415-417)acC>acT p.T139T NM_054028.1 NP_473369.1 Q96KT7 AMCL2_HUMAN solute carrier family 35, member G5 139 DUF6 1. integral to membrane GTTCTTCCACCGTATGCTCCG 0.577000 46 74 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33141173 33141173 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:33141173G>A ENST00000341947.2 - 37 2915 c.2688C>T c.(2686-2688)ccC>ccT p.P896P COL11A2_ENST00000374714.1_Silent_p.P870P|COL11A2_ENST00000374708.4_Silent_p.P810P|COL11A2_ENST00000395197.1_Silent_p.P836P|COL11A2_ENST00000361917.1_Silent_p.P789P|COL11A2_ENST00000374712.1_Silent_p.P815P|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Silent_p.P849P|COL11A2_ENST00000357486.1_Silent_p.P875P NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 896 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCTTCCCAGGGGGGCCCTGGA 0.592000 16 17 0 0 1 0 0 CCDC81 60494 broad.mit.edu 37 11 86119209 86119209 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:86119209C>T ENST00000445632.2 + 9 1282 c.1010C>T c.(1009-1011)tCc>tTc p.S337F CCDC81_ENST00000528728.1_Intron|CCDC81_ENST00000354755.1_Missense_Mutation_p.S247F|CCDC81_ENST00000278487.3_Intron NM_001156474.1 NP_001149946.1 Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 337 kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) CAACGAAATTCCCTGTTGTAC 0.388000 18 13 0 0 1 0 0 ZNF766 90321 broad.mit.edu 37 19 52793939 52793939 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:52793939C>T ENST00000439461.1 + 4 938 c.895C>T c.(895-897)Cat>Tat p.H299Y ZNF766_ENST00000359102.4_Missense_Mutation_p.H314Y|ZNF766_ENST00000599581.1_3'UTR|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000593612.1_Missense_Mutation_p.H314Y NM_001010851.2 NP_001010851.1 Q5HY98 ZN766_HUMAN zinc finger protein 766 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 17 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) AGAGAAACCTCATAAATGTAA 0.358000 11 10 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2020446 2020446 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:2020446C>T ENST00000262113.4 + 9 956 c.815C>T c.(814-816)cCg>cTg p.P272L MYOM2_ENST00000523438.1_Intron NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 272 Ig-like C2-type 2. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TCGATGATTCCGTACACGCAC 0.582000 25 18 0 0 1 0 0 PQLC2 54896 broad.mit.edu 37 1 19651187 19651187 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:19651187C>T ENST00000375153.3 + 3 865 c.225C>T c.(223-225)ctC>ctT p.L75L PQLC2_ENST00000400548.2_Silent_p.L10L|PQLC2_ENST00000375155.3_Silent_p.L75L NM_001040125.1 NP_001035214.1 Q6ZP29 PQLC2_HUMAN PQ loop repeat containing 2 75 PQ-loop 1. integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TGTGGTTCCTCCTGGGCTGGA 0.622000 26 29 0 0 1 0 0 PDE7B 27115 broad.mit.edu 37 6 136500161 136500161 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:136500161C>T ENST00000308191.6 + 10 1133 c.830C>T c.(829-831)tCc>tTc p.S277F RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA NM_018945.3 NP_061818.1 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B 277 Catalytic (By similarity). signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) CAGCTGGGCTCCTTGATCTTG 0.418000 36 69 0 0 1 0 0 CD2 914 broad.mit.edu 37 1 117297376 117297376 + Missense_Mutation SNP C C A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:117297376C>A ENST00000369478.3 + 2 293 c.185C>A c.(184-186)aCt>aAt p.T62N CD2_ENST00000369477.1_Missense_Mutation_p.T62N NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 62 Ig-like V-type.|LFA-3 (CD58) binding region 1. blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) TGGGAAAAAACTTCAGACAAG 0.343000 16 11 2.23348e-06 2.25494e-06 1 1 0 PRKCE 5581 broad.mit.edu 37 2 46234780 46234780 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:46234780G>A ENST00000306156.3 + 9 1570 c.1243G>A c.(1243-1245)Ggc>Agc p.G415S PRKCE_ENST00000394874.1_Missense_Mutation_p.G138S NM_005400.2 NP_005391.1 Q02156 KPCE_HUMAN protein kinase C, epsilon 415 Protein kinase. activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity MBOAT2/PRKCE(2) breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2) 34 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) CAAGGTGTTGGGCAAAGGCAG 0.537000 10 16 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104640289 104640289 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:104640289C>T ENST00000304883.2 - 1 684 c.544G>A c.(544-546)Gac>Aac p.D182N NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 182 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) CCTCACCTGTCCACCGCAATG 0.512000 10 8 0 0 1 0 0 MMP3 4314 broad.mit.edu 37 11 102713427 102713427 + Nonsense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:102713427C>T ENST00000299855.5 - 2 582 c.326G>A c.(325-327)tGg>tAg p.W109* NM_002422.3 NP_002413.1 P08254 MMP3_HUMAN matrix metallopeptidase 3 (stromelysin 1, progelatinase) 109 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) GGTTTTCCTCCACTTCGGGAT 0.468000 12 33 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37282857 37282857 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:37282857G>A ENST00000373091.3 - 13 1911 c.1895C>T c.(1894-1896)gCc>gTc p.A632V GRIK3_ENST00000373093.4_Missense_Mutation_p.A632V NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 632 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TGTGGACAGGGCTTTGGGCAT 0.562000 19 16 0 0 1 0 0 CA3 761 broad.mit.edu 37 8 86354322 86354322 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:86354322C>T ENST00000285381.2 + 3 336 c.253C>T c.(253-255)Cct>Tct p.P85S RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA NM_005181.3 NP_005172.1 P07451 CAH3_HUMAN carbonic anhydrase III, muscle specific 85 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GGGTCCTCTCCCTGGACCCTA 0.507000 40 72 0 0 1 0 0 EFCAB7 84455 broad.mit.edu 37 1 64027419 64027419 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:64027419G>A ENST00000371088.4 + 11 1634 c.1388G>A c.(1387-1389)gGa>gAa p.G463E EFCAB7_ENST00000461039.1_3'UTR NM_032437.2 NP_115813.2 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 463 calcium ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 ACAAGACAAGGATTTATGGAT 0.313000 11 21 0 0 1 0 0 SLC6A20 54716 broad.mit.edu 37 3 45807058 45807058 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:45807058G>A ENST00000358525.4 - 8 1389 c.1274C>T c.(1273-1275)tCc>tTc p.S425F SLC6A20_ENST00000353278.4_Missense_Mutation_p.S388F|SLC6A20_ENST00000456124.2_Missense_Mutation_p.S425F|SLC6A20_ENST00000493980.1_5'UTR NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 425 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) CAGGTGGCTGGAGATGATCTT 0.632000 4 11 0 0 1 0 0 HTR1A 3350 broad.mit.edu 37 5 63256794 63256794 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:63256794C>T ENST00000323865.3 - 1 986 c.753G>A c.(751-753)aaG>aaA p.K251K RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 251 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TCACACTCTTCTTGGGCTGCG 0.642000 22 34 0 0 1 0 0 CEBPE 1053 broad.mit.edu 37 14 23586998 23586998 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:23586998G>A ENST00000206513.5 - 2 1068 c.544C>T c.(544-546)Ccc>Tcc p.P182S NM_001805.3 NP_001796.2 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein (C/EBP), epsilon 182 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) TTCAGGAGGGGACTGCAGGGG 0.677000 26 22 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85383098 85383098 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:85383098C>T ENST00000258888.5 + 5 1361 c.1194C>T c.(1192-1194)atC>atT p.I398I NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 398 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) TGCGCGAGATCGAGCAGAGCT 0.642000 5 38 0 0 1 0 0 APEH 327 broad.mit.edu 37 3 49714354 49714354 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:49714354C>T ENST00000296456.5 + 10 1296 c.896C>T c.(895-897)tCc>tTc p.S299F APEH_ENST00000438011.1_Missense_Mutation_p.S299F NM_001640.3 NP_001631.3 P13798 ACPH_HUMAN acylaminoacyl-peptide hydrolase 299 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCGGATGACTCCCTGGCTGTC 0.587000 20 39 0 0 1 0 0 RARRES2 5919 broad.mit.edu 37 7 150037535 150037535 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:150037535G>A ENST00000466675.1 - 1 1197 c.164C>T c.(163-165)gCc>gTc p.A55V RARRES2_ENST00000223271.3_Missense_Mutation_p.A55V|RARRES2_ENST00000482669.1_Missense_Mutation_p.A55V Q99969 RARR2_HUMAN retinoic acid receptor responder (tazarotene induced) 2 55 embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process extracellular matrix receptor binding endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(82;0.011) CGTGTCCACGGCGCTCTCCAC 0.677000 3 9 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189871685 189871685 + Missense_Mutation SNP C C G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:189871685C>G ENST00000304636.3 + 44 3394 c.3224C>G c.(3223-3225)gCt>gGt p.A1075G COL3A1_ENST00000317840.5_Intron NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1075 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CCTGCTGGTGCTCCCGGTCCT 0.398000 13 22 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27949488 27949488 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:27949488C>T ENST00000379992.2 - 6 1631 c.1182G>A c.(1180-1182)aaG>aaA p.K394K LINGO2_ENST00000308675.3_Silent_p.K394K NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 394 LRRCT. integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) TATGGAAATCCTTGAAAGACC 0.507000 15 36 0 0 1 0 0 ARL9 132946 broad.mit.edu 37 4 57389908 57389908 + Missense_Mutation SNP G G T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:57389908G>T ENST00000360096.2 + 4 552 c.238G>T c.(238-240)Gca>Tca p.A80S NM_206919.1 NP_996802.1 Q6T311 ARL9_HUMAN ADP-ribosylation factor-like 9 144 GTP binding lung(2) 2 Glioma(25;0.08)|all_neural(26;0.101) TGAAGCTTTGGCATTATCTGA 0.418000 8 9 1.12685e-05 1.13668e-05 1 1 0 PPP1R3A 5506 broad.mit.edu 37 7 113520130 113520130 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:113520130C>T ENST00000284601.3 - 4 1085 c.1017G>A c.(1015-1017)agG>agA p.R339R NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 339 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 AAAATGTATTCCTTTCATCTC 0.328000 16 52 0 0 1 0 0 SLC5A12 159963 broad.mit.edu 37 11 26692740 26692740 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:26692740C>T ENST00000396005.3 - 15 2075 c.1766G>A c.(1765-1767)gGa>gAa p.G589E NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 589 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 TCTTCTGAGTCCGTTCTGTAA 0.438000 12 45 0 0 1 0 0 DSE 29940 broad.mit.edu 37 6 116756962 116756962 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:116756962G>A ENST00000331677.3 + 7 1775 c.1331G>A c.(1330-1332)aGa>aAa p.R444K DSE_ENST00000359564.2_Missense_Mutation_p.R444K|DSE_ENST00000537543.1_Missense_Mutation_p.R463K|DSE_ENST00000452085.3_Missense_Mutation_p.R444K Q9UL01 DSE_HUMAN dermatan sulfate epimerase 444 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) AAAGGATGGAGAAATTTTAAT 0.408000 15 17 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15256193 15256193 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:15256193G>A ENST00000378116.4 - 8 1400 c.1394C>T c.(1393-1395)cCc>cTc p.P465L FAM171A1_ENST00000477161.1_5'UTR NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 465 P -> S (in dbSNP:rs3814165). integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 TGCCTTTAAGGGAAAAACCTC 0.463000 12 20 0 0 1 0 0 ACSF2 80221 broad.mit.edu 37 17 48548427 48548427 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:48548427C>T ENST00000427954.2 + 12 1372 c.1329C>T c.(1327-1329)ttC>ttT p.F443F ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000541920.1_Silent_p.F258F|ACSF2_ENST00000502667.1_Silent_p.F405F|ACSF2_ENST00000504392.1_Silent_p.F375F|ACSF2_ENST00000300441.4_Silent_p.F418F Q96CM8 ACSF2_HUMAN acyl-CoA synthetase family member 2 418 fatty acid metabolic process mitochondrion ATP binding|ligase activity endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1) 13 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) CCGTGACATTCGCGCACTTCC 0.557000 11 28 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87173553 87173553 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:87173553C>T ENST00000265724.3 - 18 2520 c.2103G>A c.(2101-2103)atG>atA p.M701I ABCB1_ENST00000543898.1_Missense_Mutation_p.M637I NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 701 G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) AATTTAGCTTCATAATCCTCC 0.313000 34 29 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141622684 141622684 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:141622684G>A ENST00000442267.2 - 2 289 c.215C>T c.(214-216)tCc>tTc p.S72F NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 72 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) GTAGACCAGGGAGTCTGGAGT 0.498000 6 13 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8229539 8229539 + Silent SNP C C G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:8229539C>G ENST00000539824.1 + 12 2264 c.1890C>G c.(1888-1890)ctC>ctG p.L630L SH3TC1_ENST00000245105.3_Silent_p.L706L Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 706 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 CCGCGTGGCTCTCAGACTGCT 0.652000 15 28 0 0 1 0 0 INS-IGF2 723961 broad.mit.edu 37 11 2182069 2182069 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:2182069C>T ENST00000397270.1 - 2 191 c.133G>A c.(133-135)Gaa>Aaa p.E45K INS_ENST00000512523.1_Missense_Mutation_p.E45K|INS_ENST00000381330.4_Missense_Mutation_p.E45K|INS_ENST00000250971.3_Missense_Mutation_p.E45K|INS_ENST00000397262.1_Missense_Mutation_p.E45K NM_001042376.2 NP_001035835.1 Q1WM24 Q1WM24_HUMAN 45 glucose metabolic process extracellular region hormone activity haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 5 all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156) AAGCCTCGTTCCCCGCACACT 0.667000 20 20 0 0 1 0 0 EPB41L5 57669 broad.mit.edu 37 2 120847962 120847962 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:120847962C>T ENST00000263713.5 + 12 1127 c.913C>T c.(913-915)Cat>Tat p.H305Y EPB41L5_ENST00000331393.4_Missense_Mutation_p.H305Y|EPB41L5_ENST00000443124.1_Missense_Mutation_p.H305Y|EPB41L5_ENST00000443902.2_Missense_Mutation_p.H305Y|EPB41L5_ENST00000452780.1_Missense_Mutation_p.H305Y NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 305 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 TAGACTGGATCATCCAAAAGC 0.388000 37 40 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110455983 110455983 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:110455983C>T ENST00000378402.5 + 37 4747 c.4643C>T c.(4642-4644)aCc>aTc p.T1548I NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1548 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CTGAACAATACCAGGGTTAAA 0.433000 HNSCC(38;0.096) 5 35 0 0 1 0 0 KGFLP2 654466 broad.mit.edu 37 9 41962602 41962602 + RNA SNP G G T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:41962602G>T ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373000 5 17 0.27861 0.278852 1 1 0 KRT39 390792 broad.mit.edu 37 17 39116727 39116727 + Silent SNP C C T rs138568359 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:39116727C>T ENST00000355612.2 - 6 1058 c.1023G>A c.(1021-1023)acG>acA p.T341T AC004231.2_ENST00000418393.1_RNA NM_213656.3 NP_998821.3 Q6A163 K1C39_HUMAN keratin 39 341 Coil 2.|Rod. T -> M (in dbSNP:rs17843021). intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 17 Breast(137;0.00043)|Ovarian(249;0.15) CCTCTGTCTCCGTTAGGATGC 0.498000 29 49 0 0 1 0 0 KANSL1 284058 broad.mit.edu 37 17 44110530 44110530 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:44110530G>A ENST00000262419.6 - 13 3223 c.2753C>T c.(2752-2754)gCc>gTc p.A918V KANSL1_ENST00000575318.1_Missense_Mutation_p.A854V|KANSL1_ENST00000574590.1_Missense_Mutation_p.A918V|KANSL1_ENST00000572904.1_Missense_Mutation_p.A918V|KANSL1_ENST00000393476.3_Missense_Mutation_p.A212V|KANSL1_ENST00000432791.1_Missense_Mutation_p.A918V NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 918 MLL1 complex protein binding ATGCAGGGCGGCGAAGGCTGC 0.597000 3 2 0 0 1 0 0 IGKV2D-24 28885 broad.mit.edu 37 2 90044168 90044168 + RNA SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:90044168C>T ENST00000462693.1 + 0 119 ACTCCACTCTCCTCGCCTGTC 0.463000 33 42 0 0 1 0 0 HRG 3273 broad.mit.edu 37 3 186395415 186395415 + Nonsense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:186395415C>T ENST00000232003.4 + 7 1401 c.1321C>T c.(1321-1323)Cga>Tga p.R441* NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 441 His/Pro-rich (HRR). fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) CTTAAGAAGGCGAGGCCCAGG 0.552000 17 27 0 0 1 0 0 TNRC6B 23112 broad.mit.edu 37 22 40662432 40662432 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr22:40662432G>A ENST00000454349.2 + 5 2409 c.2198G>A c.(2197-2199)gGa>gAa p.G733E TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.G733E NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 733 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 CAGGGGTGGGGAGGTGGACGC 0.502000 4 7 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60907443 60907443 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:60907443C>T ENST00000252999.3 - 28 3603 c.3537G>A c.(3535-3537)caG>caA p.Q1179Q NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1179 Domain IV 1 (domain IV B). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGAAGCGTGCCTGTTCGGCTG 0.617000 25 26 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178413186 178413186 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:178413186G>A ENST00000231188.5 - 8 2247 c.2069C>T c.(2068-2070)cCc>cTc p.P690L RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.P690L NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 690 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GCTGATGAAGGGAGGGGGTGT 0.642000 4 7 0 0 1 0 0 AMOTL2 51421 broad.mit.edu 37 3 134089877 134089877 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:134089877G>A ENST00000514516.1 - 2 751 c.573C>T c.(571-573)ccC>ccT p.P191P AMOTL2_ENST00000422605.2_Silent_p.P133P|AMOTL2_ENST00000249883.5_Silent_p.P133P|AMOTL2_ENST00000511759.1_Intron|AMOTL2_ENST00000513145.1_Silent_p.P133P NM_001278683.1 NP_001265612.1 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 133 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 GGGCCCCACGGGGATCTCGGT 0.687000 6 9 0 0 1 0 0 CLDN9 9080 broad.mit.edu 37 16 3063828 3063828 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:3063828C>T ENST00000445369.2 + 1 1372 c.465C>T c.(463-465)gcC>gcT p.A155A NM_020982.3 NP_066192.1 O95484 CLD9_HUMAN claudin 9 155 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(2)|large_intestine(1)|lung(5)|prostate(2) 10 TGGCTGAGGCCCTCAAGCGGG 0.701000 23 23 0 0 1 0 0 OR6X1 390260 broad.mit.edu 37 11 123624373 123624373 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:123624373G>A ENST00000327930.2 - 1 880 c.854C>T c.(853-855)cCc>cTc p.P285L NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) ATAAATAAAGGGATTCAGAAG 0.423000 26 49 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78947495 78947495 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:78947495G>A ENST00000545128.1 + 33 5174 c.4636G>A c.(4636-4638)Gga>Aga p.G1546R NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 714 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GTTCCAGCTAGGAAAAGAGTG 0.537000 10 0 0 0 1 0 0 BCL3 602 broad.mit.edu 37 19 45260646 45260646 + Missense_Mutation SNP G G C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:45260646G>C ENST00000164227.5 + 5 1031 c.787G>C c.(787-789)Gag>Cag p.E263Q NM_005178.4 NP_005169.2 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 263 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding p.E255Q(1) kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) GCTCTTGCTAGAGCGCGGTGC 0.687000 T IGH@ CLL 7 9 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86469011 86469011 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:86469011C>T ENST00000361669.2 + 4 3280 c.2181C>T c.(2179-2181)atC>atT p.I727I GRM3_ENST00000546348.1_Silent_p.I319I|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Silent_p.I599I NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 727 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AAACAGTCATCCTAAAATGCA 0.493000 13 36 0 0 1 0 0 CYBA 1535 broad.mit.edu 37 16 88713210 88713210 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:88713210G>A ENST00000569359.1 - 4 256 c.240C>T c.(238-240)ttC>ttT p.F80F CYBA_ENST00000261623.3_Silent_p.F80F|CYBA_ENST00000567174.1_Silent_p.F80F P13498 CY24A_HUMAN cytochrome b-245, alpha polypeptide 80 cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport NADPH oxidase complex|stored secretory granule electron carrier activity|heme binding|protein heterodimerization activity|SH3 domain binding endometrium(1)|liver(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0478) TAAAGGGCCCGAACAGCTTCA 0.652000 21 10 0 0 1 0 0 SKP1 6500 broad.mit.edu 37 5 133496736 133496736 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:133496736G>A ENST00000353411.6 - 4 440 c.257C>T c.(256-258)cCt>cTt p.P86L SKP1_ENST00000522855.1_Missense_Mutation_p.P86L|SKP1_ENST00000522552.1_Missense_Mutation_p.P86L|SKP1_ENST00000517625.1_Missense_Mutation_p.P86L|SKP1_ENST00000521216.1_Missense_Mutation_p.P86L NM_170679.2 NP_733779.1 P63208 SKP1_HUMAN S-phase kinase-associated protein 1 86 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction cytosol|nucleoplasm|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTCCCAAACAGGGATATCATC 0.418000 10 9 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116525977 116525977 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:116525977C>T ENST00000410059.1 + 13 1698 c.1218C>T c.(1216-1218)atC>atT p.I406I DPP10_ENST00000409163.1_Silent_p.I356I|DPP10_ENST00000310323.8_Silent_p.I399I|DPP10_ENST00000393147.2_Silent_p.I410I NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 406 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TGTTCCTCATCCAGGTAAGTG 0.473000 15 10 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37769436 37769436 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr22:37769436G>A ENST00000402918.1 - 3 2924 c.2139C>T c.(2137-2139)ccC>ccT p.P713P ELFN2_ENST00000349653.3_Silent_p.P713P|RP1-63G5.5_ENST00000430883.1_RNA NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 713 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) AGTACAGGGCGGGAAAGCTGT 0.706000 4 8 0 0 1 0 0 STAP2 55620 broad.mit.edu 37 19 4325490 4325490 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:4325490C>T ENST00000600324.1 - 10 949 c.882G>A c.(880-882)caG>caA p.Q294Q STAP2_ENST00000594605.1_Silent_p.Q294Q|STAP2_ENST00000597593.1_5'UTR NM_017720.2 NP_060190.2 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 294 Pro-rich. cytoplasm|nucleus protein binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) GCAGCTTGTCCTGGCTAGACG 0.587000 80 106 0 0 1 0 0 EGR4 1961 broad.mit.edu 37 2 73518837 73518837 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:73518837G>A ENST00000545030.1 - 2 1592 c.1518C>T c.(1516-1518)atC>atT p.I506I EGR4_ENST00000436467.2_Silent_p.I403I NM_001965.3 NP_001956.3 B7ZKU3 B7ZKU3_HUMAN early growth response 4 402 intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GGCCCGTGTGGATGCGCAGGT 0.677000 18 32 0 0 1 0 0 PTPRJ 5795 broad.mit.edu 37 11 48166409 48166409 + Missense_Mutation SNP G G T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:48166409G>T ENST00000418331.2 + 13 3110 c.2758G>T c.(2758-2760)Ggg>Tgg p.G920W NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 920 YNGKLEPLGSYR -> LQWEAGTSGLLP (in Ref. 2; BAA07035). contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TTATTACAATGGGAAGCTGGA 0.458000 20 53 1.55795e-14 1.59098e-14 1 1 0 DSC1 1823 broad.mit.edu 37 18 28737418 28737418 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr18:28737418C>T ENST00000257197.3 - 3 528 c.267G>A c.(265-267)agG>agA p.R89R RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.R89R NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 89 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) AAAAACTTTTCCTTTCAGAAG 0.428000 10 13 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15063833 15063833 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:15063833G>A ENST00000430939.2 - 8 1343 c.1214C>T c.(1213-1215)cCc>cTc p.P405L SLC1A6_ENST00000600144.1_Missense_Mutation_p.P391L|SLC1A6_ENST00000221742.3_Missense_Mutation_p.P469L P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 469 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) ACCCGCCTGGGGGATGCCAGC 0.607000 73 115 0 0 1 0 0 SOX17 64321 broad.mit.edu 37 8 55372442 55372442 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:55372442C>T ENST00000297316.4 + 2 1336 c.1132C>T c.(1132-1134)Ccc>Tcc p.P378S NM_022454.3 NP_071899.1 Q9H6I2 SOX17_HUMAN SRY (sex determining region Y)-box 17 378 Sox C-terminal. angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1) 18 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) GATGGGCCTCCCCTACCAGGG 0.627000 9 29 0 0 1 0 0 CSF1R 1436 broad.mit.edu 37 5 149439417 149439417 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:149439417G>A ENST00000286301.3 - 15 2269 c.1978C>T c.(1978-1980)Ctg>Ttg p.L660L CSF1R_ENST00000515239.1_5'UTR NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 660 Protein kinase. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) GTGATGACCAGTACAGGGCCT 0.627000 14 26 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82580232 82580232 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:82580232C>T ENST00000423517.2 - 6 10009 c.9672G>A c.(9670-9672)gaG>gaA p.E3224E PCLO_ENST00000333891.8_Silent_p.E3224E NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3155 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GCTTAATTTTCTCCAGTTCCA 0.443000 16 47 0 0 1 0 0 WTIP 126374 broad.mit.edu 37 19 34991079 34991079 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:34991079C>T ENST00000590071.2 + 8 1535 c.1198C>T c.(1198-1200)Ccc>Tcc p.P400S WTIP_ENST00000270288.6_Missense_Mutation_p.P624S NM_001080436.1 NP_001073905.1 Wilms tumor 1 interacting protein NS(1)|large_intestine(2)|lung(1) 4 all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) CCGTTGCTATCCCCTGGCGGG 0.657000 14 10 0 0 1 0 0 USP54 159195 broad.mit.edu 37 10 75286499 75286499 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:75286499G>A ENST00000339859.4 - 15 2200 c.2100C>T c.(2098-2100)tcC>tcT p.S700S USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Silent_p.S550S|USP54_ENST00000408019.1_Silent_p.S700S|USP54_ENST00000394811.2_5'UTR Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 700 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) TATGACGCCAGGAAGGAACCA 0.493000 13 18 0 0 1 0 0 KCNJ11 3767 broad.mit.edu 37 11 17409022 17409022 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:17409022C>T ENST00000339994.4 - 1 1184 c.617G>A c.(616-618)cGc>cAc p.R206H KCNJ11_ENST00000528731.1_Missense_Mutation_p.R119H NM_000525.3 NP_000516.3 B4DWI4 B4DWI4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 11 119 integral to membrane ATP-activated inward rectifier potassium channel activity endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2) 16 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) CATGCTCTTGCGGAGGTCACC 0.647000 OREG0020810 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 13 0 0 1 0 0 SSH1 54434 broad.mit.edu 37 12 109186434 109186434 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:109186434G>A ENST00000326495.5 - 14 1614 c.1521C>T c.(1519-1521)ctC>ctT p.L507L SSH1_ENST00000360239.3_Silent_p.L195L|SSH1_ENST00000326470.5_Silent_p.L518L|SSH1_ENST00000551165.1_Silent_p.L507L NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 507 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AACAGCAGGGGAGGGGGGGCC 0.647000 26 22 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 122075525 122075525 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:122075525C>T ENST00000265922.3 - 2 570 c.109G>A c.(109-111)Gaa>Aaa p.E37K DBC1_ENST00000373964.2_Missense_Mutation_p.E37K NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 37 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CAATCAAATTCCTTGGAGACA 0.498000 13 3 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713681 70713681 + RNA SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:70713681C>T ENST00000530196.1 - 0 837 NR_003951.1 AATACATCCTCTTGCACCTTT 0.388000 24 33 0 0 1 0 0 MSL2 55167 broad.mit.edu 37 3 135870068 135870068 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:135870068G>A ENST00000309993.2 - 2 2387 c.1655C>T c.(1654-1656)cCa>cTa p.P552L MSL2_ENST00000434835.2_Missense_Mutation_p.P478L NM_018133.3 NP_060603.2 Q9HCI7 MSL2_HUMAN male-specific lethal 2 homolog (Drosophila) 552 histone H4-K16 acetylation MSL complex zinc ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 18 CGTCGTTACTGGGGACCCTGT 0.448000 33 49 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171243659 171243659 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:171243659C>T ENST00000334231.6 + 14 1445 c.1445C>T c.(1444-1446)tCc>tTc p.S482F MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.S473F|MYO3B_ENST00000409044.3_Missense_Mutation_p.S473F Q8WXR4 MYO3B_HUMAN myosin IIIB 473 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 CAAGTCAACTCCCTGGTGGAA 0.443000 13 26 0 0 1 0 0 PTGDR 5729 broad.mit.edu 37 14 52735285 52735285 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:52735285G>A ENST00000306051.2 + 1 855 c.753G>A c.(751-753)agG>agA p.R251R PTGDR_ENST00000553372.1_Silent_p.R251R NM_000953.2 NP_000944.1 Q13258 PD2R_HUMAN prostaglandin D2 receptor (DP) 251 integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) CGGACGGGAGGGAAGCGTCCC 0.667000 32 52 0 0 1 0 0 SRD5A1 6715 broad.mit.edu 37 5 6662995 6662995 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:6662995C>T ENST00000274192.5 + 4 863 c.629C>T c.(628-630)gCc>gTc p.A210V SRD5A1_ENST00000537411.1_3'UTR|SRD5A1_ENST00000538824.1_Missense_Mutation_p.A163V NM_001047.2 NP_001038.1 P18405 S5A1_HUMAN steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) 210 androgen biosynthetic process|cell differentiation|sex determination|sex differentiation endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Dutasteride(DB01126)|Finasteride(DB01216) TGTGGCTATGCCCTGGCCAGC 0.423000 34 33 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3205659 3205659 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:3205659C>T ENST00000520002.1 - 23 3887 c.3332G>A c.(3331-3333)gGa>gAa p.G1111E CSMD1_ENST00000542608.1_Missense_Mutation_p.G1110E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1110E|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1110E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1111E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1111E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1111E Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1111 CUB 7. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCCTTCATTTCCTTTGACACT 0.343000 8 7 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230450605 230450605 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:230450605C>T ENST00000341772.4 - 4 950 c.816G>A c.(814-816)gaG>gaA p.E272E DNER_ENST00000482831.1_5'UTR NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 272 central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) AGGCGAGCATCTCCTCCAGGA 0.502000 7 18 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149500812 149500812 + RNA SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:149500812G>A ENST00000378016.2 + 0 8130 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCCAACCAGGGGGCTGCCCCC 0.692000 7 10 0 0 1 0 0 SUCLG1 8802 broad.mit.edu 37 2 84658743 84658743 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:84658743G>A ENST00000393868.2 - 7 924 c.714C>T c.(712-714)gaC>gaT p.D238D SUCLG1_ENST00000491123.1_5'UTR NM_003849.3 NP_003840.2 P53597 SUCA_HUMAN succinate-CoA ligase, alpha subunit 238 tricarboxylic acid cycle ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity kidney(4)|large_intestine(4)|lung(2) 10 Succinic acid(DB00139) TTTCGAGGCAGTCAATAAAAT 0.368000 21 23 0 0 1 0 0 WDR12 55759 broad.mit.edu 37 2 203762097 203762097 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:203762097G>A ENST00000261015.3 - 5 1129 c.380C>T c.(379-381)tCc>tTc p.S127F NM_018256.3 NP_060726.3 Q9GZL7 WDR12_HUMAN WD repeat domain 12 127 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1) 13 TCCTTCCAAGGACCAGATCCG 0.378000 15 32 0 0 1 0 0 SRP72 6731 broad.mit.edu 37 4 57340312 57340312 + Silent SNP A A G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:57340312A>G ENST00000342756.5 + 4 1168 c.447A>G c.(445-447)acA>acG p.T149T SRP72_ENST00000504757.1_Silent_p.T149T|SRP72_ENST00000510663.1_Silent_p.T149T NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72kDa 149 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) AGAGGAAAACAAACCTTTCAG 0.393000 16 28 0 0 1 0 0 GAB4 128954 broad.mit.edu 37 22 17488972 17488972 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr22:17488972C>T ENST00000400588.1 - 1 140 c.33G>A c.(31-33)gaG>gaA p.E11E NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 11 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) GTGGGCACAGCTCCCGGGAGG 0.682000 5 2 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37746482 37746482 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:37746482G>A ENST00000539465.1 + 16 5046 c.4453G>A c.(4453-4455)Gag>Aag p.E1485K FRMPD1_ENST00000377765.3_Missense_Mutation_p.E1485K|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1485 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) GTCCCCCGAAGAGATGCAGGG 0.637000 15 5 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38512000 38512000 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:38512000G>A ENST00000263409.4 - 6 790 c.628C>T c.(628-630)Ccc>Tcc p.P210S LIFR_ENST00000453190.2_Missense_Mutation_p.P210S|LIFR_ENST00000503088.1_5'UTR NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 210 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) CATTCCAAGGGCATATCTGAG 0.418000 T PLAG1 salivary adenoma 16 21 0 0 1 0 0 OR4X2 119764 broad.mit.edu 37 11 48266964 48266964 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:48266964G>A ENST00000302329.3 + 1 357 c.309G>A c.(307-309)gaG>gaA p.E103E NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 GTGGCACTGAGATTTTCCTGC 0.512000 26 40 0 0 1 0 0 ARSE 415 broad.mit.edu 37 X 2867709 2867709 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:2867709G>A ENST00000545496.1 - 7 856 c.565C>T c.(565-567)Cat>Tat p.H189Y ARSE_ENST00000381134.3_Missense_Mutation_p.H164Y|ARSE_ENST00000540563.1_Missense_Mutation_p.H119Y P51690 ARSE_HUMAN arylsulfatase E (chondrodysplasia punctata 1) 164 skeletal system development Golgi stack arylsulfatase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AAGCCATGATGGAGAGGGTGG 0.498000 7 16 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31809231 31809231 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:31809231C>T ENST00000446923.2 + 7 1311 c.920C>T c.(919-921)cCc>cTc p.P307L ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Missense_Mutation_p.P323L|ZEB1_ENST00000542815.3_Missense_Mutation_p.P256L|ZEB1_ENST00000361642.5_Missense_Mutation_p.P324L|ZEB1_ENST00000560721.2_Missense_Mutation_p.P303L NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 323 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) CCAGGCAGTCCCACACGACCA 0.418000 17 26 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13781007 13781007 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:13781007C>T ENST00000265104.4 - 53 8986 c.8882G>A c.(8881-8883)gGa>gAa p.G2961E NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2961 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCTCTGCTTTCCTGATCCGCC 0.463000 Kartagener syndrome 11 15 0 0 1 0 0 PTF1A 256297 broad.mit.edu 37 10 23482663 23482663 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:23482663G>A ENST00000376504.3 + 2 1019 c.815G>A c.(814-816)gGc>gAc p.G272D NM_178161.2 NP_835455.1 Q7RTS3 PTF1A_HUMAN pancreas specific transcription factor, 1a 272 endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent cytoplasm|transcription factor complex endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 7 CCTGATTATGGCCTCCCTCCC 0.512000 67 119 0 0 1 0 0 TRDN 10345 broad.mit.edu 37 6 123869614 123869614 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:123869614C>T ENST00000334268.4 - 3 693 c.376G>A c.(376-378)Gaa>Aaa p.E126K TRDN_ENST00000542443.1_Missense_Mutation_p.E126K|TRDN_ENST00000398178.3_Missense_Mutation_p.E126K|TRDN_ENST00000546248.1_Missense_Mutation_p.E126K Q13061 TRDN_HUMAN triadin 126 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) TCAGTATCTTCGTCACCATCA 0.363000 3 3 0 0 1 0 0 NCAPH2 29781 broad.mit.edu 37 22 50957676 50957676 + Missense_Mutation SNP A A G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr22:50957676A>G ENST00000395701.3 + 9 882 c.788A>G c.(787-789)gAg>gGg p.E263G NCAPH2_ENST00000395698.3_Missense_Mutation_p.E263G|NCAPH2_ENST00000420993.2_Missense_Mutation_p.E263G|NCAPH2_ENST00000299821.11_Missense_Mutation_p.E263G Q6IBW4 CNDH2_HUMAN non-SMC condensin II complex, subunit H2 263 chromosome condensation chromosome|nucleus breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1) 24 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) GATGCAGAGGAGGCAGTAGAG 0.667000 4 5 0 0 1 0 0 CHRDL2 25884 broad.mit.edu 37 11 74414512 74414512 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:74414512C>T ENST00000376332.3 - 8 1280 c.784G>A c.(784-786)Ggg>Agg p.G262R CHRDL2_ENST00000263671.5_Missense_Mutation_p.G262R|CHRDL2_ENST00000534159.1_5'UTR NM_001278473.1 NP_001265402.1 Q6WN34 CRDL2_HUMAN chordin-like 2 262 VWFC 3. cartilage development|cell differentiation|ossification extracellular region|mitochondrion endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2) 15 Hepatocellular(1;0.098) CACACCTCCCCGTGGGAGTAC 0.647000 6 11 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227958978 227958978 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:227958978C>T ENST00000396625.3 - 20 1439 c.1232G>A c.(1231-1233)gGa>gAa p.G411E COL4A4_ENST00000329662.7_Missense_Mutation_p.G411E NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 411 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) ACCAGGAAATCCTTGTGGCCC 0.478000 5 19 0 0 1 0 0 SERPINA5 5104 broad.mit.edu 37 14 95058453 95058453 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:95058453G>A ENST00000329597.7 + 6 1308 c.1098G>A c.(1096-1098)acG>acA p.T366T SERPINA5_ENST00000554276.1_Silent_p.T366T|SERPINA5_ENST00000553780.1_Silent_p.T366T|SERPINA3_ENST00000553947.1_5'UTR|SERPINA5_ENST00000554866.1_Silent_p.T366T NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 366 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) CGGCAGCCACGGGGACAATAT 0.567000 81 137 0 0 1 0 0 AQP9 366 broad.mit.edu 37 15 58471453 58471453 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:58471453G>A ENST00000219919.4 + 5 992 c.622G>A c.(622-624)Gga>Aga p.G208R ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.G143R|AQP9_ENST00000536493.1_Missense_Mutation_p.G208R NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 208 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) TTCCTCCCTGGGACTGAACAG 0.537000 14 30 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98581897 98581897 + Silent SNP C C T rs56256674 byFrequency TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:98581897C>T ENST00000359863.4 + 60 9425 c.9216C>T c.(9214-9216)atC>atT p.I3072I TRRAP_ENST00000355540.3_Silent_p.I3043I|TRRAP_ENST00000446306.3_Silent_p.I3043I NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3072 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CTGTTCCTATCGTGGATTGCT 0.478000 47 69 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141766486 141766486 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:141766486G>A ENST00000475668.2 + 41 4938 c.4884G>A c.(4882-4884)acG>acA p.T1628T MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1628 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AGGCCCACACGGAGGGCGTCA 0.493000 96 50 0 0 1 0 0 SIMC1 375484 broad.mit.edu 37 5 175740715 175740715 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:175740715G>A ENST00000443967.1 + 7 2106 c.1699G>A c.(1699-1701)Gtc>Atc p.V567I SIMC1_ENST00000341199.6_Missense_Mutation_p.V152I|SIMC1_ENST00000332772.4_Missense_Mutation_p.V28I|SIMC1_ENST00000430704.2_Missense_Mutation_p.V152I SUMO-interacting motifs containing 1 GCCTGGGCGAGTCCTTTTCCT 0.483000 69 81 0 0 1 0 0 CCDC132 55610 broad.mit.edu 37 7 92905594 92905594 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:92905594C>T ENST00000544910.1 + 13 1049 c.829C>T c.(829-831)Ctg>Ttg p.L277L CCDC132_ENST00000305866.5_Silent_p.L307L|CCDC132_ENST00000317751.6_Silent_p.L38L|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000541136.1_Silent_p.L118L|CCDC132_ENST00000251739.5_Silent_p.L307L NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 307 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) ATTCCAAAAGCTGCAATATAA 0.338000 30 26 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 62923294 62923294 + Missense_Mutation SNP G G T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:62923294G>T ENST00000251157.5 - 48 6295 c.6262C>A c.(6262-6264)Cat>Aat p.H2088N DOCK7_ENST00000340370.5_Missense_Mutation_p.H2068N NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 2099 DHR-2. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 TTAAGGCGATGATAGTTTCTC 0.423000 56 43 2.23044e-30 2.28986e-30 1 1 0 SPHKAP 80309 broad.mit.edu 37 2 228883942 228883942 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:228883942C>T ENST00000392056.3 - 7 1674 c.1628G>A c.(1627-1629)gGa>gAa p.G543E SPHKAP_ENST00000344657.5_Missense_Mutation_p.G543E NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 543 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTCCTTGAGTCCTTGGGGTGC 0.527000 22 46 0 0 1 0 0 TJP1 7082 broad.mit.edu 37 15 29993816 29993816 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:29993816G>A ENST00000346128.6 - 28 5704 c.5230C>T c.(5230-5232)Ctt>Ttt p.L1744F TJP1_ENST00000400011.2_Missense_Mutation_p.L1688F|TJP1_ENST00000545208.2_Missense_Mutation_p.L1664F|TJP1_ENST00000356107.6_Missense_Mutation_p.L1764F NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 1744 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) TGGTCAATAAGGACAGAAACA 0.348000 12 32 0 0 1 0 0 DRG2 1819 broad.mit.edu 37 17 18002954 18002954 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:18002954C>T ENST00000225729.3 + 5 522 c.384C>T c.(382-384)ggC>ggT p.G128G DRG2_ENST00000395726.4_Silent_p.G128G|DRG2_ENST00000583355.1_Intron NM_001388.4 NP_001379.1 P55039 DRG2_HUMAN developmentally regulated GTP binding protein 2 128 G. signal transduction GTP binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 14 all_neural(463;0.228) CAGGAAAAGGCCGTGGCCGGC 0.612000 3 5 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870774 51870774 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:51870774G>A ENST00000371497.5 + 2 1664 c.777G>A c.(775-777)agG>agA p.R259R TSHZ2_ENST00000329613.6_Silent_p.R256R|TSHZ2_ENST00000603338.2_Silent_p.R256R NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 259 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CAAAGCCCAGGAAAAGGGCTT 0.478000 15 25 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135583173 135583173 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:135583173G>A ENST00000513104.1 - 7 2112 c.1830C>T c.(1828-1830)aaC>aaT p.N610N TRPC7_ENST00000355180.3_Silent_p.N549N|TRPC7_ENST00000426057.2_Silent_p.N494N NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 610 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TAAACGCTGGGTTGTATTTGG 0.473000 7 16 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16232341 16232341 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:16232341C>T ENST00000399408.2 + 31 4618 c.4443C>T c.(4441-4443)acC>acT p.T1481T ABCC1_ENST00000346370.5_Silent_p.T1415T|ABCC1_ENST00000351154.5_Silent_p.T1412T|ABCC1_ENST00000349029.5_Silent_p.T1356T|ABCC1_ENST00000399410.3_Silent_p.T1471T|ABCC1_ENST00000345148.5_Intron P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 1471 ABC transporter 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TCCAGTCCACCATCCGGACAC 0.607000 11 11 0 0 1 0 0 PSME2 5721 broad.mit.edu 37 14 24614322 24614322 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:24614322G>A ENST00000216802.5 - 6 944 c.305C>T c.(304-306)tCc>tTc p.S102F PSME2_ENST00000560410.1_Missense_Mutation_p.S91F|PSME2_ENST00000471700.2_5'UTR NM_002818.2 NP_002809.2 Q9UL46 PSME2_HUMAN proteasome (prosome, macropain) activator subunit 2 (PA28 beta) 102 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome activator complex endometrium(1)|lung(3)|prostate(2) 6 GBM - Glioblastoma multiforme(265;0.00839) GGCAAGCAGGGACAGGACTTT 0.502000 36 47 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50534849 50534849 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:50534849G>A ENST00000267845.3 - 12 1999 c.1597C>T c.(1597-1599)Ccc>Tcc p.P533S HDC_ENST00000543581.1_Missense_Mutation_p.P500S NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 533 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) CTTTTCATGGGACCGGCTCCC 0.567000 17 38 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40052233 40052233 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:40052233G>A ENST00000373233.3 - 30 4631 c.4454C>T c.(4453-4455)tCc>tTc p.S1485F NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1485 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GTCCAAACGGGAAATGATGCG 0.443000 69 90 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29556474 29556474 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:29556474C>T ENST00000358273.4 + 21 3224 c.2841C>T c.(2839-2841)tcC>tcT p.S947S NF1_ENST00000356175.3_Silent_p.S947S NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 947 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TTTTTGACTCCCAAGGACAGG 0.348000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 21 44 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20345329 20345329 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:20345329G>A ENST00000298642.2 + 1 939 c.903G>A c.(901-903)ctG>ctA p.L301L NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGAGGAAACTGAAAAATAGGT 0.348000 13 79 0 0 1 0 0 GIF 2694 broad.mit.edu 37 11 59604786 59604786 + Nonsense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:59604786C>T ENST00000541311.1 - 6 891 c.657G>A c.(655-657)tgG>tgA p.W219* GIF_ENST00000257248.2_Nonsense_Mutation_p.W244* P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 244 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 TCTTGCAGTTCCATTCCTTTT 0.448000 4 19 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73063723 73063723 + RNA SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:73063723G>A ENST00000429829.1 - 0 8865 NR_001564.2 AAAGGTGATGGGGTATGACCT 0.408000 5 4 0 0 1 0 0 C3orf22 152065 broad.mit.edu 37 3 126268923 126268923 + Splice_Site SNP T T A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:126268923T>A ENST00000318225.2 - 4 594 c.e4-2 NM_152533.1 NP_689746.1 Q8N5N4 CC022_HUMAN chromosome 3 open reading frame 22 large_intestine(1)|lung(3)|ovary(2)|prostate(1) 7 GBM - Glioblastoma multiforme(114;0.147) GCCCCGAGCCTAGAGAAGCCA 0.612000 9 14 0 0 1 0 0 OR1N1 138883 broad.mit.edu 37 9 125288701 125288701 + Missense_Mutation SNP C C G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:125288701C>G ENST00000304880.2 - 1 871 c.872G>C c.(871-873)aGg>aCg p.R291T NM_012363.1 NP_036495.1 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, member 1 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 GTCCTTGTTCCTTAGGCTATA 0.463000 10 4 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 436729 436729 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:436729G>A ENST00000280886.6 - 11 1422 c.1335C>T c.(1333-1335)tgC>tgT p.C445C DIP2C_ENST00000381496.3_Silent_p.C338C NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 445 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GTCCTTTATGGCAGGCGTCAC 0.537000 27 51 0 0 1 0 0 IRAK2 3656 broad.mit.edu 37 3 10280489 10280489 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:10280489C>T ENST00000256458.4 + 12 1621 c.1531C>T c.(1531-1533)Cct>Tct p.P511S NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 511 activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 GACGTTGCTCCCTTGGAGTGG 0.562000 24 45 0 0 1 0 0 PTGFR 5737 broad.mit.edu 37 1 78958793 78958793 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:78958793C>T ENST00000370756.3 + 2 602 c.365C>T c.(364-366)cCa>cTa p.P122L PTGFR_ENST00000370757.3_Missense_Mutation_p.P122L|PTGFR_ENST00000370758.1_Missense_Mutation_p.P122L NM_001039585.1 NP_001034674.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 122 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) GGTCTGTGCCCACTTCTTCTA 0.388000 16 42 0 0 1 0 0 AOC4P 90586 broad.mit.edu 37 17 41020220 41020220 + RNA SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:41020220C>T ENST00000585538.1 + 0 1059 NR_002773.1 GCCCCCGGGTCCAGCTCCCCC 0.642000 10 12 0 0 1 0 0 KREMEN1 83999 broad.mit.edu 37 22 29494916 29494916 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr22:29494916G>A ENST00000400338.2 + 3 380 c.327G>A c.(325-327)aaG>aaA p.K109K KREMEN1_ENST00000400335.4_Silent_p.K109K|KREMEN1_ENST00000407188.1_Silent_p.K107K|KREMEN1_ENST00000327813.5_Silent_p.K109K Q96MU8 KREM1_HUMAN kringle containing transmembrane protein 1 107 Kringle. cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane|membrane fraction protein binding breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 20 TCTACTGGAAGTACTGTGAGA 0.502000 18 16 0 0 1 0 0 C14orf166B 145497 broad.mit.edu 37 14 77327075 77327075 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:77327075G>A ENST00000393774.3 + 11 1268 c.1144G>A c.(1144-1146)Gga>Aga p.G382R NM_194287.2 NP_919263.2 Q0VAA2 CN16B_HUMAN chromosome 14 open reading frame 166B 382 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) AACGTTGGACGGAGTGTATGC 0.542000 9 14 0 0 1 0 0 MX1 4599 broad.mit.edu 37 21 42808946 42808946 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr21:42808946C>T ENST00000398600.2 + 9 1328 c.303C>T c.(301-303)atC>atT p.I101I MX1_ENST00000288383.6_Silent_p.I78I|MX1_ENST00000455164.2_Silent_p.I101I|MX1_ENST00000398598.3_Silent_p.I101I NM_001144925.1 NP_001138397.1 P20591 MX1_HUMAN myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) 101 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) TCCTAGGGATCGTGACCAGAT 0.478000 16 19 0 0 1 0 0 PRMT5 10419 broad.mit.edu 37 14 23394111 23394111 + Missense_Mutation SNP C C G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:23394111C>G ENST00000324366.8 - 8 1139 c.916G>C c.(916-918)Gac>Cac p.D306H PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.D245H|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.D135H|PRMT5_ENST00000397441.2_Missense_Mutation_p.D289H|PRMT5_ENST00000553897.1_Missense_Mutation_p.D262H|PRMT5_ENST00000538452.1_Missense_Mutation_p.D200H NM_006109.3 NP_006100.2 O14744 ANM5_HUMAN protein arginine methyltransferase 5 306 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) TGCAGATAGTCTTCATAGCCC 0.478000 7 81 0 0 1 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55360397 55360397 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:55360397C>T ENST00000398661.2 - 8 836 c.705G>A c.(703-705)aaG>aaA p.K235K HMGCLL1_ENST00000274901.4_Silent_p.K205K|HMGCLL1_ENST00000370850.2_Silent_p.K102K|HMGCLL1_ENST00000308161.4_Silent_p.K173K|HMGCLL1_ENST00000508459.1_Intron NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 235 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) CGTACAATCTCTTAGACACCT 0.388000 17 21 0 0 1 0 0 ATCAY 85300 broad.mit.edu 37 19 3905637 3905637 + Missense_Mutation SNP C C G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:3905637C>G ENST00000450849.2 + 4 809 c.342C>G c.(340-342)aaC>aaG p.N114K ATCAY_ENST00000398448.3_Missense_Mutation_p.N120K|ATCAY_ENST00000301260.6_Missense_Mutation_p.N114K|ATCAY_ENST00000600960.1_Missense_Mutation_p.N114K NM_033064.4 NP_149053.1 Q86WG3 ATCAY_HUMAN ataxia, cerebellar, Cayman type 114 transport protein binding breast(1)|endometrium(2)|kidney(2)|lung(2) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) GGAATGGCAACGAACTGGAGT 0.577000 22 73 0 0 1 0 0 GRHL3 57822 broad.mit.edu 37 1 24663144 24663144 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:24663144C>T ENST00000361548.4 + 4 669 c.439C>T c.(439-441)Ccc>Tcc p.P147S GRHL3_ENST00000356046.2_Missense_Mutation_p.P101S|GRHL3_ENST00000342072.4_Missense_Mutation_p.P54S|GRHL3_ENST00000236255.4_Missense_Mutation_p.P152S|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000350501.5_Missense_Mutation_p.P147S NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 147 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) CAAGGCAGCTCCCCTCCCTGC 0.567000 47 56 0 0 1 0 0 UROC1 131669 broad.mit.edu 37 3 126236519 126236519 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:126236519G>A ENST00000290868.2 - 1 97 c.44C>T c.(43-45)cCc>cTc p.P15L UROC1_ENST00000383579.3_Missense_Mutation_p.P15L NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 15 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) CTCTGGGAGGGGCCGCAGGGG 0.677000 3 6 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94088185 94088185 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:94088185G>A ENST00000553484.1 + 31 4826 c.4672G>A c.(4672-4674)Gcg>Acg p.A1558T UNC79_ENST00000393151.2_Missense_Mutation_p.A1536T|UNC79_ENST00000555664.1_Missense_Mutation_p.A1536T|UNC79_ENST00000256339.4_Missense_Mutation_p.A1359T Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1536 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GACCCAAGCTGCGTATATCGC 0.488000 33 21 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152807185 152807185 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:152807185C>T ENST00000370186.1 + 4 791 c.465C>T c.(463-465)atC>atT p.I155I ATP2B3_ENST00000370181.2_Silent_p.I155I|ATP2B3_ENST00000359149.3_Silent_p.I155I|ATP2B3_ENST00000393842.1_Silent_p.I155I|ATP2B3_ENST00000349466.2_Silent_p.I155I|ATP2B3_ENST00000263519.4_Silent_p.I155I Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 155 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGGCTGGATCGAGGGGGCTG 0.617000 34 18 0 0 1 0 0 C2CD2 25966 broad.mit.edu 37 21 43325928 43325928 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr21:43325928G>A ENST00000380486.3 - 11 1578 c.1337C>T c.(1336-1338)cCc>cTc p.P446L C2CD2_ENST00000329623.7_Missense_Mutation_p.P291L NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 446 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 CACCTTGATGGGAGTCTTCAC 0.542000 9 14 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73498378 73498378 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:73498378G>A ENST00000224721.6 + 34 4353 c.4348G>A c.(4348-4350)Gac>Aac p.D1450N NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1445 Cadherin 14. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CAAGGCCTGGGACCCTGATGC 0.642000 8 12 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57640962 57640962 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:57640962C>T ENST00000254181.4 + 4 1373 c.919C>T c.(919-921)Cca>Tca p.P307S USP29_ENST00000598197.1_Missense_Mutation_p.P307S NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 307 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATTTGCAATTCCATCTTTTGC 0.443000 17 40 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41763460 41763460 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:41763460G>A ENST00000301178.4 + 19 2449 c.2259G>A c.(2257-2259)gtG>gtA p.V753V AXL_ENST00000593513.1_Silent_p.V485V|AXL_ENST00000359092.3_Silent_p.V744V NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 753 Protein kinase. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 ATCCGGGCGTGGAGAACAGCG 0.567000 25 70 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137212 40137212 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:40137212C>T ENST00000278198.2 - 2 2594 c.631G>A c.(631-633)Gaa>Aaa p.E211K LRRC4C_ENST00000530763.1_Missense_Mutation_p.E211K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E211K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.E211K Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 211 regulation of axonogenesis integral to membrane protein binding p.E211*(1) NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TTAGGGATTTCCCGAAGGTTG 0.453000 17 42 0 0 1 0 0 OR5D16 390144 broad.mit.edu 37 11 55606653 55606653 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:55606653C>T ENST00000378396.1 + 1 426 c.426C>T c.(424-426)ctC>ctT p.L142L NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) CCCAGAAACTCTGTGCCATGC 0.453000 26 31 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 132192469 132192469 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:132192469G>A ENST00000359827.3 - 2 1946 c.984C>T c.(982-984)gtC>gtT p.V328V PLXNA4_ENST00000321063.4_Silent_p.V328V|PLXNA4_ENST00000423507.2_Silent_p.V328V|PLXNA4_ENST00000378539.5_Silent_p.V328V Q9HCM2 PLXA4_HUMAN plexin A4 328 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CATCTGGATGGACTCCAAGGG 0.592000 28 21 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101520688 101520688 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:101520688C>T ENST00000392979.3 + 26 2964 c.2603C>T c.(2602-2604)tCa>tTa p.S868L ANO4_ENST00000550015.1_Missense_Mutation_p.S423L|ANO4_ENST00000299222.9_Missense_Mutation_p.S423L|ANO4_ENST00000392977.3_Missense_Mutation_p.S903L NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 903 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 CACCTCATTTCATATCTGATC 0.443000 HNSCC(74;0.22) 12 11 0 0 1 0 0 TEAD1 7003 broad.mit.edu 37 11 12951768 12951768 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:12951768C>T ENST00000361905.4 + 12 1682 c.1017C>T c.(1015-1017)aaC>aaT p.N339N TEAD1_ENST00000334310.6_Silent_p.N285N|TEAD1_ENST00000527575.1_Silent_p.N296N|TEAD1_ENST00000526600.1_Silent_p.N258N|TEAD1_ENST00000527636.1_Silent_p.N354N|TEAD1_ENST00000361985.2_Silent_p.N354N NM_021961.5 NP_068780.2 P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) 354 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) ACCGAATAAACCGCTCCCCAA 0.363000 17 45 0 0 1 0 0 OGN 4969 broad.mit.edu 37 9 95163468 95163468 + Splice_Site SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:95163468C>T ENST00000262551.4 - 3 595 c.e3-1 OGN_ENST00000375561.5_Splice_Site|CENPP_ENST00000375587.3_Intron NM_033014.2 NP_148935.1 P20774 MIME_HUMAN osteoglycin extracellular space|proteinaceous extracellular matrix growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 13 TTTCTTTTTCCTATTGGAAAA 0.343000 15 4 0 0 1 0 0 CAMK1 8536 broad.mit.edu 37 3 9804684 9804684 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:9804684C>T ENST00000256460.3 - 5 520 c.343G>A c.(343-345)Gag>Aag p.E115K OGG1_ENST00000449570.2_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron NM_003656.4 NP_003647.1 Q14012 KCC1A_HUMAN calcium/calmodulin-dependent protein kinase I 115 Protein kinase. cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 12 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) GCGTCCCGCTCCGTGTAGAAG 0.592000 7 23 0 0 1 0 0 PDCL3 79031 broad.mit.edu 37 2 101188240 101188240 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:101188240G>A ENST00000264254.6 + 5 935 c.557G>A c.(556-558)gGc>gAc p.G186D NM_024065.4 NP_076970.1 Q9H2J4 PDCL3_HUMAN phosducin-like 3 186 apoptosis|interspecies interaction between organisms cytoplasm protein binding endometrium(3)|large_intestine(2)|liver(1)|lung(6) 12 GTGTTTGGCGGCATGAACCTG 0.498000 4 97 0 0 1 0 0 DGKG 1608 broad.mit.edu 37 3 186002461 186002461 + Silent SNP G G A rs150564600 by1000genomes TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:186002461G>A ENST00000265022.3 - 7 1121 c.582C>T c.(580-582)ctC>ctT p.L194L DGKG_ENST00000544847.1_Silent_p.L194L|DGKG_ENST00000344484.4_Silent_p.L194L|DGKG_ENST00000382164.4_Silent_p.L194L NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 194 EF-hand 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) CTTGGTCCAGGAGACCGTTCT 0.483000 17 21 0 0 1 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140772512 140772512 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:140772512C>T ENST00000398604.2 + 1 132 c.132C>T c.(130-132)ttC>ttT p.F44F PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGGCTCCTTCGTGGGTAATA 0.602000 8 28 0 0 1 0 0 NGFR 4804 broad.mit.edu 37 17 47587799 47587799 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:47587799G>A ENST00000172229.3 + 4 719 c.594G>A c.(592-594)cgG>cgA p.R198R NGFR_ENST00000504201.1_Silent_p.R104R|RP5-1029K10.2_ENST00000514506.1_RNA NM_002507.3 NP_002498.1 P08138 TNR16_HUMAN nerve growth factor receptor 198 Ser/Thr-rich. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1) 17 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) GGATTACACGGTCCACACCCC 0.617000 19 41 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20535232 20535232 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:20535232G>A ENST00000504154.1 + 18 1978 c.1726G>A c.(1726-1728)Gga>Aga p.G576R SLIT2_ENST00000273739.5_Missense_Mutation_p.G580R|SLIT2_ENST00000503837.1_Missense_Mutation_p.G572R|SLIT2_ENST00000503823.1_Missense_Mutation_p.G568R NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 576 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TATTGAGGAGGGAGCATTTGA 0.338000 9 20 0 0 1 0 0 EXOC8 149371 broad.mit.edu 37 1 231472295 231472295 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:231472295G>A ENST00000366645.1 - 1 1303 c.1185C>T c.(1183-1185)tcC>tcT p.S395S EXOC8_ENST00000360394.2_Silent_p.S399S Q8IYI6 EXOC8_HUMAN exocyst complex component 8 399 exocytosis|protein transport growth cone|nucleus protein binding cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1) 14 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) AACGATCTGGGGAGAGTTCGA 0.537000 16 26 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99772543 99772543 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:99772543C>T ENST00000370185.3 + 7 2766 c.2269C>T c.(2269-2271)Ccc>Tcc p.P757S LPPR4_ENST00000370184.1_Missense_Mutation_p.P599S|LPPR4_ENST00000457765.1_Missense_Mutation_p.P699S NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 757 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) AGGAACCTCCCCCACACGGGC 0.463000 25 47 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1260910 1260910 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:1260910G>A ENST00000348261.5 + 21 4410 c.4162G>A c.(4162-4164)Ggc>Agc p.G1388S CACNA1H_ENST00000565831.1_Missense_Mutation_p.G1388S|CACNA1H_ENST00000358590.4_Missense_Mutation_p.G1388S NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1388 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) CTCGGCTGGTGGCGCCAAGAT 0.692000 32 45 0 0 1 0 0 SAP130 79595 broad.mit.edu 37 2 128775270 128775270 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:128775270G>A ENST00000357702.5 - 3 541 c.410C>T c.(409-411)tCg>tTg p.S137L SAP130_ENST00000259235.3_Missense_Mutation_p.S137L|SAP130_ENST00000259234.6_Missense_Mutation_p.S111L NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 137 Pro-rich. histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) AAGTCCCTCCGAAAATGAAAG 0.488000 21 34 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65350557 65350557 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:65350557G>A ENST00000330909.8 - 20 3344 c.3345C>T c.(3343-3345)acC>acT p.T1115T MAGI1_ENST00000483466.1_Silent_p.T1116T|MAGI1_ENST00000497477.2_Silent_p.T1020T|MAGI1_ENST00000402939.2_Silent_p.T1087T NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1116 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GCTGAGAAGGGGTGTGTGTGG 0.478000 26 43 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158436256 158436256 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:158436256G>A ENST00000289451.2 + 1 985 c.905G>A c.(904-906)cGa>cAa p.R302Q NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TCAGCCCTACGAAGAACAATC 0.373000 17 26 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36594965 36594965 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:36594965C>T ENST00000299440.5 + 2 223 c.111C>T c.(109-111)tcC>tcT p.S37S NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 37 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) GGGTGAGATCCTTTGAAAAGA 0.463000 Familial Hemophagocytic Lymphohistiocytosis 22 37 0 0 1 0 0 HCK 3055 broad.mit.edu 37 20 30659483 30659483 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:30659483C>T ENST00000534862.1 + 3 384 c.21C>T c.(19-21)tcC>tcT p.S7S HCK_ENST00000375862.2_Silent_p.S27S|HCK_ENST00000375852.2_Silent_p.S27S|HCK_ENST00000518730.1_Silent_p.S6S|HCK_ENST00000520553.1_Silent_p.S6S|HCK_ENST00000538448.1_Silent_p.S6S NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase 27 interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GCATGAAGTCCAAGTTCCTCC 0.562000 22 28 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26094815 26094815 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:26094815G>A ENST00000313735.6 - 18 2316 c.2083C>T c.(2083-2085)Ccc>Tcc p.P695S NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 695 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding p.P695T(2) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TAGAGCTTGGGGATCTGAATG 0.567000 8 25 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62296432 62296432 + Silent SNP A A G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:62296432A>G ENST00000378024.4 - 5 5731 c.5457T>C c.(5455-5457)ggT>ggC p.G1819G AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1819 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CCACAAAAGGACCTTTGACAT 0.502000 50 79 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35731618 35731618 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:35731618C>T ENST00000187397.4 + 8 987 c.531C>T c.(529-531)ttC>ttT p.F177F ARPP21_ENST00000417925.1_Silent_p.F177F|ARPP21_ENST00000337271.5_Silent_p.F177F|ARPP21_ENST00000458225.1_Silent_p.F177F|ARPP21_ENST00000444190.1_Silent_p.F177F NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 177 R3H. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 TTATTGATTTCATTGCTGACA 0.318000 7 18 0 0 1 0 0 ENTPD1 953 broad.mit.edu 37 10 97607294 97607294 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:97607294C>T ENST00000371203.5 + 6 1078 c.491C>T c.(490-492)aCc>aTc p.T164I ENTPD1_ENST00000543964.1_Missense_Mutation_p.T194I|ENTPD1_ENST00000539125.1_Missense_Mutation_p.T164I|ENTPD1_ENST00000453258.2_Missense_Mutation_p.T309I|ENTPD1-AS1_ENST00000416301.1_RNA|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371205.4_Missense_Mutation_p.T302I|ENTPD1_ENST00000371207.3_Missense_Mutation_p.T314I NM_001164179.1|NM_001164182.1|NM_001776.5 NP_001157651.1|NP_001157654.1|NP_001767.3 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 302 cell adhesion integral to plasma membrane ATP binding cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1) 16 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) ACCCCCTGCACCAAGAGATTT 0.438000 19 47 0 0 1 0 0 OTOA 146183 broad.mit.edu 37 16 21712301 21712301 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:21712301G>A ENST00000388958.3 + 10 934 c.933G>A c.(931-933)agG>agA p.R311R OTOA_ENST00000388956.4_Silent_p.R232R|OTOA_ENST00000286149.4_Silent_p.R311R NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 311 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) TTCTGGAGAGGATCAGCTCCT 0.527000 13 22 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121650545 121650545 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:121650545C>T ENST00000393386.2 + 12 1856 c.1445C>T c.(1444-1446)tCc>tTc p.S482F PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S482F NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 482 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 ACTAACCGATCCCCAACAAGA 0.413000 47 36 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169644384 169644384 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:169644384G>A ENST00000428432.2 + 6 723 c.334G>A c.(334-336)Gaa>Aaa p.E112K SAMD7_ENST00000335556.3_Missense_Mutation_p.E112K NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 112 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) AAGGAGAATGGAAAAAATTAA 0.428000 13 23 0 0 1 0 0 TINAGL1 64129 broad.mit.edu 37 1 32051392 32051392 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:32051392G>A ENST00000271064.7 + 10 1208 c.1132G>A c.(1132-1134)Gga>Aga p.G378R TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Missense_Mutation_p.G347R NM_001204415.1|NM_022164.2 NP_001191344.1|NP_071447.1 Q9GZM7 TINAL_HUMAN tubulointerstitial nephritis antigen-like 1 378 endosome transport|immune response|proteolysis extracellular region cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145) CCTATACAAGGGAGGCATCTA 0.602000 3 8 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131666048 131666048 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:131666048C>T ENST00000368648.3 - 9 955 c.883G>A c.(883-885)Gag>Aag p.E295K EBF3_ENST00000355311.5_Missense_Mutation_p.E304K NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 304 IPT/TIG. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GGGCTTACCTCGCTCCACACC 0.527000 10 14 0 0 1 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 6 101 0 0 1 0 0 KIF13B 23303 broad.mit.edu 37 8 29023224 29023224 + Silent SNP A A C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:29023224A>C ENST00000524189.1 - 12 1262 c.1224T>G c.(1222-1224)acT>acG p.T408T KIF13B_ENST00000521515.1_Silent_p.T408T NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 408 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) CCCAGGTCACAGTCATTTCCT 0.443000 14 24 0 0 1 0 0 ZNF683 257101 broad.mit.edu 37 1 26691607 26691607 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:26691607C>T ENST00000436292.1 - 4 550 c.430G>A c.(430-432)Ggg>Agg p.G144R ZNF683_ENST00000374204.1_Missense_Mutation_p.G144R|ZNF683_ENST00000403843.1_Missense_Mutation_p.G144R|ZNF683_ENST00000349618.3_Missense_Mutation_p.G144R Q8IZ20 ZN683_HUMAN zinc finger protein 683 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) CAGGGGGCCCCCTCGCCAGCT 0.597000 5 3 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18250624 18250624 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:18250624G>A ENST00000377369.2 + 3 649 c.376G>A c.(376-378)Gaa>Aaa p.E126K SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377371.3_Missense_Mutation_p.E126K|SLC39A12_ENST00000377374.4_Missense_Mutation_p.E126K NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 126 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 TATTCATCAGGAAGAGATCTG 0.383000 10 39 0 0 1 0 0 DTNB 1838 broad.mit.edu 37 2 25851216 25851216 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:25851216G>A ENST00000406818.3 - 4 435 c.186C>T c.(184-186)ttC>ttT p.F62F DTNB_ENST00000288642.8_Silent_p.F62F|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000407661.3_Silent_p.F62F|DTNB_ENST00000407038.3_Silent_p.F62F|DTNB_ENST00000407186.1_Silent_p.F62F|DTNB_ENST00000405222.1_Silent_p.F62F|DTNB_ENST00000404103.3_Silent_p.F62F|DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000496972.2_Silent_p.F5F NM_001256303.1|NM_021907.4 NP_001243232.1|NP_068707.1 O60941 DTNB_HUMAN dystrobrevin, beta 62 cytoplasm calcium ion binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CATTGTCTCGGAAGGCTTCAA 0.423000 10 7 0 0 1 0 0 RER1 11079 broad.mit.edu 37 1 2327258 2327258 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:2327258C>T ENST00000605895.1 + 2 162 c.29C>T c.(28-30)tCc>tTc p.S10F RER1_ENST00000378512.1_Missense_Mutation_p.S10F|RER1_ENST00000378513.3_Missense_Mutation_p.S10F|RER1_ENST00000378518.1_Missense_Mutation_p.S10F|RER1_ENST00000488353.1_Missense_Mutation_p.S10F NM_007033.4 NP_008964.3 O15258 RER1_HUMAN retention in endoplasmic reticulum sorting receptor 1 10 retrograde vesicle-mediated transport, Golgi to ER integral to Golgi membrane endometrium(3)|kidney(1) 4 all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204) GTGGGAGAATCCGTCCATGGG 0.408000 11 23 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160047460 160047460 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:160047460C>T ENST00000327245.5 - 15 3156 c.2310G>A c.(2308-2310)agG>agA p.R770R CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 770 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACATTCTCTTCCTGACAGAGT 0.592000 8 22 0 0 1 0 0 USP24 23358 broad.mit.edu 37 1 55598326 55598326 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:55598326G>A ENST00000294383.6 - 31 3428 c.3429C>T c.(3427-3429)tcC>tcT p.S1143S USP24_ENST00000407756.1_Silent_p.S983S NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 1143 Ser-rich. ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 TTGATGACAGGGATGGAGATT 0.393000 7 15 0 0 1 0 0 MFSD8 256471 broad.mit.edu 37 4 128861129 128861129 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:128861129G>A ENST00000296468.3 - 7 704 c.577C>T c.(577-579)Ctt>Ttt p.L193F MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_Intron|MFSD8_ENST00000513559.1_Missense_Mutation_p.L148F NM_152778.2 NP_689991.1 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 8 193 cell death|transmembrane transport integral to membrane|lysosomal membrane cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1) 23 TTTTCTCCAAGGAATGTAAAA 0.289000 17 35 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19677555 19677555 + Splice_Site SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:19677555G>A ENST00000328041.6 + 14 1803 c.1606_splice c.e14+1 p.G536_splice NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 536 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GGCCAGACAAGGTGGGACTTC 0.617000 11 17 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70512854 70512854 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:70512854G>A ENST00000503640.1 - 1 564 c.509C>T c.(508-510)tCc>tTc p.S170F UGT2A1_ENST00000286604.4_Missense_Mutation_p.S170F|UGT2A1_ENST00000514019.1_Missense_Mutation_p.S170F|UGT2A1_ENST00000512704.1_Missense_Mutation_p.S170F NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 170 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 AAACCTCAAGGAGTACATAAA 0.428000 14 29 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6958555 6958555 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr18:6958555G>A ENST00000389658.3 - 55 7978 c.7885C>T c.(7885-7887)Cca>Tca p.P2629S NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2629 Laminin G-like 3. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTCCCTCTGGAATTCCCCCG 0.463000 13 14 0 0 1 0 0 NIPAL4 348938 broad.mit.edu 37 5 156899411 156899411 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:156899411G>A ENST00000311946.7 + 6 960 c.844G>A c.(844-846)Ggg>Agg p.G282R ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.G263R NM_001099287.1 NP_001092757.1 Q0D2K0 NIPA4_HUMAN NIPA-like domain containing 4 282 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 CCCACGTTACGGGCAAAGGAA 0.507000 OREG0016979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 85 0 0 1 0 0 AGBL5 60509 broad.mit.edu 37 2 27276294 27276294 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:27276294G>A ENST00000360131.4 + 3 399 c.240G>A c.(238-240)cgG>cgA p.R80R AGBL5_ENST00000323064.8_Silent_p.R80R NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 80 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCAGCGTCCGGGGAGGAATGC 0.527000 18 35 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956058 18956058 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:18956058G>A ENST00000302797.3 - 1 498 c.274C>T c.(274-276)Cat>Tat p.H92Y MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 92 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GAGATGGTATGGGGGATACTG 0.517000 29 53 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123021960 123021960 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:123021960C>T ENST00000462833.1 - 14 3878 c.2666G>A c.(2665-2667)aGc>aAc p.S889N ADCY5_ENST00000309879.5_Missense_Mutation_p.S539N|ADCY5_ENST00000491190.1_Missense_Mutation_p.S522N NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 889 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) ATCGCCCAGGCTGTAGTTGAC 0.642000 14 24 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23523410 23523410 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:23523410G>A ENST00000296682.3 + 9 1075 c.893G>A c.(892-894)gGg>gAg p.G298E NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 298 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 ATCACCAAGGGGAGAAACTGC 0.438000 HNSCC(3;0.000094) 10 20 0 0 1 0 0 CDYL2 124359 broad.mit.edu 37 16 80718716 80718716 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:80718716G>A ENST00000299564.8 - 2 490 c.335C>T c.(334-336)cCc>cTc p.P112L CDYL2_ENST00000566173.1_Missense_Mutation_p.P112L|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000563890.1_Missense_Mutation_p.P112L|CDYL2_ENST00000562812.1_Missense_Mutation_p.P112L NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 112 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 CTTGGCCAGGGGAGGGTTAAT 0.552000 11 9 0 0 1 0 0 OXSR1 9943 broad.mit.edu 37 3 38278380 38278380 + Silent SNP A A G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:38278380A>G ENST00000311806.3 + 11 1374 c.1002A>G c.(1000-1002)ggA>ggG p.G334G OXSR1_ENST00000446845.1_Silent_p.G334G NM_005109.2 NP_005100.1 O95747 OXSR1_HUMAN oxidative stress responsive 1 334 intracellular protein kinase cascade|response to oxidative stress ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CAGAGGATGGAGGCTGGGAGT 0.423000 30 36 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135429310 135429310 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:135429310C>T ENST00000394143.1 + 6 3736 c.3445C>T c.(3445-3447)Ccc>Tcc p.P1149S GPR112_ENST00000412101.1_Missense_Mutation_p.P944S|GPR112_ENST00000394141.1_Missense_Mutation_p.P944S|GPR112_ENST00000370652.1_Missense_Mutation_p.P1149S|GPR112_ENST00000287534.4_Missense_Mutation_p.P1086S NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1149 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTCAAAACCTCCCCCTGACAA 0.483000 28 9 0 0 1 0 0 PPA1 5464 broad.mit.edu 37 10 71973281 71973281 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:71973281C>T ENST00000373232.2 - 6 548 c.449G>A c.(448-450)gGg>gAg p.G150E PPA1_ENST00000373230.4_Missense_Mutation_p.G150E NM_021129.3 NP_066952.1 Q15181 IPYR_HUMAN pyrophosphatase (inorganic) 1 150 diphosphate metabolic process|tRNA aminoacylation for protein translation cytosol inorganic diphosphatase activity|magnesium ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2) 10 GTCGGTTTCCCCTTCGTCAAT 0.383000 26 32 0 0 1 0 0 PTPN23 25930 broad.mit.edu 37 3 47452966 47452966 + Silent SNP C C G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:47452966C>G ENST00000265562.4 + 20 3755 c.3678C>G c.(3676-3678)gtC>gtG p.V1226V PTPN23_ENST00000431726.1_Silent_p.V1100V NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 1226 Tyrosine-protein phosphatase. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ACCAGGATGTCATGCCCTATG 0.602000 17 47 0 0 1 0 0 GPR83 10888 broad.mit.edu 37 11 94113639 94113639 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:94113639G>A ENST00000243673.2 - 4 1119 c.948C>T c.(946-948)tcC>tcT p.S316S GPR83_ENST00000539203.2_Silent_p.S274S NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 316 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TGACCTTGCTGGACAGGAGGA 0.532000 25 26 0 0 1 0 0 SYNPR 132204 broad.mit.edu 37 3 63600983 63600983 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:63600983G>A ENST00000478300.1 + 6 1095 c.684G>A c.(682-684)caG>caA p.Q228Q SYNPR_ENST00000465156.1_Silent_p.Q144Q|SYNPR_ENST00000479198.1_3'UTR|SYNPR_ENST00000460711.1_Silent_p.Q219Q|SYNPR_ENST00000295894.5_Silent_p.Q208Q NM_001130003.1 NP_001123475.1 Q8TBG9 SYNPR_HUMAN synaptoporin 208 5 X approximate repeats. cell junction|integral to membrane|synaptic vesicle membrane|synaptosome transporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904) CTTCGGGACAGAGATATCTTT 0.453000 5 5 0 0 1 0 0 BRPF3 27154 broad.mit.edu 37 6 36168987 36168987 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:36168987C>T ENST00000357641.6 + 2 1141 c.888C>T c.(886-888)atC>atT p.I296I BRPF3_ENST00000339717.7_Silent_p.I296I|BRPF3_ENST00000534400.1_Silent_p.I296I|BRPF3_ENST00000443324.2_Silent_p.I296I|BRPF3_ENST00000543502.1_Silent_p.I296I|BRPF3_ENST00000534694.1_Silent_p.I296I NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 296 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 CCATCTGGATCCCTGAAGTCT 0.547000 16 24 0 0 1 0 0 CPNE7 27132 broad.mit.edu 37 16 89653081 89653081 + Nonsense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:89653081C>T ENST00000268720.5 + 10 1139 c.1009C>T c.(1009-1011)Cag>Tag p.Q337* CPNE7_ENST00000319518.8_Nonsense_Mutation_p.Q262* NM_014427.4 NP_055242.1 Q9UBL6 CPNE7_HUMAN copine VII 337 lipid metabolic process transporter activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2) 17 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) GCCCCAGGCCCAGTGGGACTG 0.587000 24 5 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227872279 227872279 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:227872279C>T ENST00000396625.3 - 48 5042 c.4835G>A c.(4834-4836)gGa>gAa p.G1612E COL4A4_ENST00000329662.7_Missense_Mutation_p.G1609E NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1612 Collagen IV NC1. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GGCCTGCCCTCCTCCTTGGTC 0.562000 16 24 0 0 1 0 0 ONECUT1 3175 broad.mit.edu 37 15 53049957 53049957 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:53049957C>T ENST00000305901.5 - 2 1320 c.1193G>A c.(1192-1194)cGa>cAa p.R398Q ONECUT1_ENST00000560699.2_Missense_Mutation_p.E39K|ONECUT1_ENST00000561401.2_5'UTR NM_004498.2 NP_004489.1 Q9UBC0 HNF6_HUMAN one cut homeobox 1 398 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 17 all cancers(107;0.0708) ATGTAGAGTTCGACGCTGGAC 0.463000 51 106 0 0 1 0 0 CIDEB 27141 broad.mit.edu 37 14 24776700 24776700 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:24776700C>T ENST00000336557.5 - 5 1365 c.63G>A c.(61-63)tcG>tcA p.S21S NOP9_ENST00000267425.3_3'UTR|CIDEB_ENST00000258807.5_Silent_p.S21S|CIDEB_ENST00000554411.1_Silent_p.S21S Q9UHD4 CIDEB_HUMAN cell death-inducing DFFA-like effector b 21 apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis cytosol NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(265;0.0181) GTCCAAACTCCGAGCTTATAT 0.552000 17 38 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9064566 9064566 + Missense_Mutation SNP G G T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:9064566G>T ENST00000397910.4 - 3 23083 c.22880C>A c.(22879-22881)cCt>cAt p.P7627H NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7629 Ser-rich.|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 AGACTCCGAAGGACCTGTTTG 0.463000 22 25 3.10358e-05 3.12793e-05 1 1 0 LLGL2 3993 broad.mit.edu 37 17 73566171 73566171 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:73566171C>T ENST00000392550.3 + 15 1826 c.1709C>T c.(1708-1710)cCc>cTc p.P570L LLGL2_ENST00000167462.5_Missense_Mutation_p.P570L|LLGL2_ENST00000577200.1_Missense_Mutation_p.P570L NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 570 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CGCTCAGGGCCCGTGCGCTTT 0.687000 3 14 0 0 1 0 0 RASSF9 9182 broad.mit.edu 37 12 86198821 86198821 + Missense_Mutation SNP C C G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:86198821C>G ENST00000361228.3 - 2 1335 c.967G>C c.(967-969)Gag>Cag p.E323Q NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 323 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATGCTTTTCTCCAAATCACAC 0.373000 46 89 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31393192 31393192 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:31393192G>A ENST00000328111.2 + 21 2601 c.2280G>A c.(2278-2280)ttG>ttA p.L760L DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000353855.2_Silent_p.L740L|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000201963.3_Silent_p.L752L|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000344505.4_Silent_p.L740L NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 760 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 AGGACTGCTTGGAATACAATA 0.493000 13 27 0 0 1 0 0 CLEC4F 165530 broad.mit.edu 37 2 71043813 71043813 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:71043813C>T ENST00000272367.2 - 4 776 c.700G>A c.(700-702)Gaa>Aaa p.E234K CLEC4F_ENST00000426626.1_Missense_Mutation_p.E234K NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 234 endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 TTTGCCGTTTCCAAACTGGCA 0.408000 22 19 0 0 1 0 0 STAT1 6772 broad.mit.edu 37 2 191848400 191848400 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:191848400G>A ENST00000361099.3 - 17 1801 c.1414C>T c.(1414-1416)Ctt>Ttt p.L472F STAT1_ENST00000392323.2_Missense_Mutation_p.L474F|STAT1_ENST00000392322.3_Missense_Mutation_p.L472F|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.L472F NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 472 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) TTGTACCAAAGGATGGAGGCC 0.537000 14 56 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33587427 33587427 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:33587427G>A ENST00000262873.7 + 35 4812 c.4720G>A c.(4720-4722)Gaa>Aaa p.E1574K NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1532 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GAGCATCCAGGAACTGGAGAA 0.607000 8 11 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53092783 53092783 + Missense_Mutation SNP A A T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:53092783A>T ENST00000276480.7 - 9 859 c.176T>A c.(175-177)aTg>aAg p.M59K NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 59 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TCGGGGCTTCATTAGCAGGGA 0.507000 30 66 0 0 1 0 0 YARS 8565 broad.mit.edu 37 1 33272179 33272179 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:33272179G>A ENST00000373477.4 - 4 1322 c.414C>T c.(412-414)tcC>tcT p.S138S NM_003680.3 NP_003671.1 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 138 apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) GTGTGACCACGGAGGAGAGTC 0.532000 27 42 0 0 1 0 0 ZSCAN21 7589 broad.mit.edu 37 7 99654900 99654900 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:99654900G>A ENST00000292450.4 + 2 435 c.271G>A c.(271-273)Gag>Aag p.E91K ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E91K|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E91K NM_145914.2 NP_666019.1 Q9Y5A6 ZSC21_HUMAN zinc finger and SCAN domain containing 21 91 SCAN box. positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1) 21 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) ACTGGTGCTGGAGCAGTTCCT 0.632000 45 16 0 0 1 0 0 KCNV1 27012 broad.mit.edu 37 8 110980496 110980496 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:110980496C>T ENST00000524391.1 - 4 2356 c.1324G>A c.(1324-1326)Gaa>Aaa p.E442K KCNV1_ENST00000297404.1_Missense_Mutation_p.E442K Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 442 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) ACAGCTGCTTCCTTGAGTTTC 0.433000 23 27 0 0 1 0 0 FAN1 22909 broad.mit.edu 37 15 31221449 31221449 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:31221449G>A ENST00000362065.4 + 12 2927 c.2636G>A c.(2635-2637)aGa>aAa p.R879K FAN1_ENST00000568145.1_3'UTR NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 879 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 TTCACAAGCAGACGCCCAGCC 0.607000 Direct reversal of damage 4 100 0 0 1 0 0 CCDC63 160762 broad.mit.edu 37 12 111291243 111291243 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:111291243C>T ENST00000308208.5 + 3 286 c.44C>T c.(43-45)cCc>cTc p.P15L CCDC63_ENST00000552694.1_Intron|CCDC63_ENST00000550317.1_Intron|CCDC63_ENST00000545036.1_5'UTR NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 15 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 TCCGACACTCCCCAGGAACCT 0.577000 13 15 0 0 1 0 0 RGS3 5998 broad.mit.edu 37 9 116356774 116356774 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:116356774C>T ENST00000374140.2 + 23 3354 c.3145C>T c.(3145-3147)Ccc>Tcc p.P1049S RGS3_ENST00000342620.5_Missense_Mutation_p.P19S|RGS3_ENST00000374134.3_Missense_Mutation_p.P370S|RGS3_ENST00000350696.5_Missense_Mutation_p.P1049S|RGS3_ENST00000343817.5_Missense_Mutation_p.P768S|RGS3_ENST00000462403.1_Missense_Mutation_p.P162S|RGS3_ENST00000394646.3_Missense_Mutation_p.P442S|RGS3_ENST00000462143.1_Missense_Mutation_p.P370S NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 1049 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 TGGAGCCCCTCCCGCGGGCAA 0.587000 19 14 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43912675 43912675 + Missense_Mutation SNP A A T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:43912675A>T ENST00000562955.1 + 65 8951 c.8951A>T c.(8950-8952)cAc>cTc p.H2984L SZT2_ENST00000372442.1_Missense_Mutation_p.H2142L NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 3041 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GACCTGATGCACGTGCACTCG 0.597000 9 8 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28345478 28345478 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:28345478C>T ENST00000337532.5 - 17 1758 c.1482G>A c.(1480-1482)ttG>ttA p.L494L MPP7_ENST00000540098.1_Silent_p.L494L|MPP7_ENST00000375732.1_Silent_p.L494L|MPP7_ENST00000375719.3_Silent_p.L494L NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 494 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 TTGTTTCTCTCAAACGCTCTA 0.378000 28 58 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90301555 90301555 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:90301555G>A ENST00000469640.2 + 21 2689 c.2314G>A c.(2314-2316)Ggg>Agg p.G772R DAPK1_ENST00000491893.1_Missense_Mutation_p.G772R|DAPK1_ENST00000472284.1_Missense_Mutation_p.G772R|DAPK1_ENST00000358077.5_Missense_Mutation_p.G772R|DAPK1_ENST00000408954.3_Missense_Mutation_p.G772R P53355 DAPK1_HUMAN death-associated protein kinase 1 772 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 TCTTACCAAAGGGATGCTGGA 0.582000 Chronic Lymphocytic Leukemia, Familial Clustering of 6 2 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 43986071 43986071 + Missense_Mutation SNP G G C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr22:43986071G>C ENST00000262726.7 - 24 3168 c.2915C>G c.(2914-2916)gCa>gGa p.A972G EFCAB6_ENST00000396231.2_Missense_Mutation_p.A820G NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 972 EF-hand 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TTTGGTGAATGCTTTGCTGAT 0.413000 19 28 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166924574 166924574 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:166924574G>A ENST00000061240.2 + 6 1311 c.664G>A c.(664-666)Gga>Aga p.G222R TLL1_ENST00000513213.1_Missense_Mutation_p.G222R|TLL1_ENST00000507499.1_Missense_Mutation_p.G222R NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 222 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GCGAGGAAATGGACCTCAGGC 0.448000 15 7 0 0 1 0 0 KIF25 3834 broad.mit.edu 37 6 168440834 168440834 + Missense_Mutation SNP C C T rs139367341 by1000genomes TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:168440834C>T ENST00000443060.2 + 7 975 c.584C>T c.(583-585)tCc>tTc p.S195F KIF25_ENST00000354419.2_Missense_Mutation_p.S195F|KIF25_ENST00000351261.3_Missense_Mutation_p.S195F Q9UIL4 KIF25_HUMAN kinesin family member 25 195 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) CACGCGGATTCCTCCAGGTCT 0.557000 13 16 0 0 1 0 0 RPS6KA5 9252 broad.mit.edu 37 14 91369249 91369249 + Missense_Mutation SNP T T C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:91369249T>C ENST00000261991.3 - 9 1195 c.1022A>G c.(1021-1023)gAt>gGt p.D341G RPS6KA5_ENST00000418736.2_Missense_Mutation_p.D341G|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.D262G NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 341 AGC-kinase C-terminal. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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 cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) ATCTAATTCATCTCGAATGAC 0.408000 18 20 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189590656 189590656 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:189590656C>T ENST00000264731.3 + 10 1310 c.1221C>T c.(1219-1221)ggC>ggT p.G407G TP63_ENST00000392461.3_Silent_p.G313G|TP63_ENST00000392460.3_Silent_p.G407G|TP63_ENST00000354600.5_Silent_p.G313G|TP63_ENST00000418709.2_Silent_p.G407G|TP63_ENST00000382063.4_Silent_p.G322G|TP63_ENST00000456148.1_Silent_p.G309G|TP63_ENST00000437221.1_Silent_p.G313G|TP63_ENST00000440651.2_Silent_p.G403G|TP63_ENST00000449992.1_Silent_p.G228G|TP63_ENST00000320472.5_Silent_p.G407G|TP63_ENST00000392463.2_Silent_p.G313G NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 407 Oligomerization. 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) AGGTGAGGGGCCGTGAGACTT 0.443000 HNSCC(45;0.13) 16 15 0 0 1 0 0 C14orf37 145407 broad.mit.edu 37 14 58563470 58563470 + Silent SNP G G A rs111628716 TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:58563470G>A ENST00000267485.7 - 5 2255 c.2061C>T c.(2059-2061)ctC>ctT p.L687L NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 687 integral to membrane binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 GTTCCCACTCGAGGGCATCTG 0.512000 5 18 0 0 1 0 0 OPLAH 26873 broad.mit.edu 37 8 145111547 145111547 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:145111547C>T ENST00000426825.1 - 13 1899 c.1818G>A c.(1816-1818)ggG>ggA p.G606G OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 606 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) CCCCGAAGTCCCCCGCACGGG 0.672000 12 29 0 0 1 0 0 ALX4 60529 broad.mit.edu 37 11 44297015 44297015 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:44297015G>A ENST00000329255.3 - 2 763 c.660C>T c.(658-660)acC>acT p.T220T NM_021926.3 NP_068745.2 Q9H161 ALX4_HUMAN ALX homeobox 4 220 hair follicle development central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 AGCTGGTGAAGGTGGTCCGGT 0.622000 61 74 0 0 1 0 0 IL1A 3552 broad.mit.edu 37 2 113539379 113539379 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:113539379C>T ENST00000263339.3 - 4 276 c.121G>A c.(121-123)Ggc>Agc p.G41S NM_000575.3 NP_000566.3 P01583 IL1A_HUMAN interleukin 1, alpha 41 anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion cytosol|extracellular space copper ion binding|cytokine activity|interleukin-1 receptor binding breast(2)|large_intestine(1)|lung(9) 12 TGGAGTGGGCCATAGCTTACA 0.443000 11 27 0 0 1 0 0 OR5R1 219479 broad.mit.edu 37 11 56185427 56185427 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:56185427G>A ENST00000312253.1 - 1 281 c.282C>T c.(280-282)ttC>ttT p.F94F NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) CACAAGCATGGAAAGGAATGG 0.463000 9 7 0 0 1 0 0 PODN 127435 broad.mit.edu 37 1 53544220 53544220 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:53544220G>A ENST00000371500.3 + 10 1466 c.1125G>A c.(1123-1125)cgG>cgA p.R375R PODN_ENST00000395871.2_Silent_p.R252R|PODN_ENST00000312553.5_Silent_p.R394R|RP11-334A14.5_ENST00000447867.1_RNA NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 346 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 ACCAGCTGCGGGAGCAGGGCA 0.652000 10 28 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1459998 1459998 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:1459998G>A ENST00000345913.4 + 7 854 c.763G>A c.(763-765)Gga>Aga p.G255R TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.G255R|TPO_ENST00000329066.4_Missense_Mutation_p.G255R|TPO_ENST00000382201.3_Missense_Mutation_p.G255R|TPO_ENST00000349624.3_Missense_Mutation_p.G255R|TPO_ENST00000382198.1_Missense_Mutation_p.G255R|TPO_ENST00000346956.3_Missense_Mutation_p.G255R NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 255 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TGCCTTCGGGGGAGGGGCTGA 0.473000 6 19 0 0 1 0 0 OR3A3 8392 broad.mit.edu 37 17 3324457 3324457 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:3324457C>T ENST00000291231.1 + 1 596 c.596C>T c.(595-597)tCc>tTc p.S199F NM_012373.2 NP_036505.2 P47888 OR3A3_HUMAN olfactory receptor, family 3, subfamily A, member 3 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1) 9 CTCTCCTGCTCCAGCACCCAA 0.552000 22 46 0 0 1 0 0 FBF1 85302 broad.mit.edu 37 17 73915929 73915929 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:73915929G>A ENST00000586717.1 - 19 2189 c.1916C>T c.(1915-1917)tCg>tTg p.S639L FBF1_ENST00000319129.5_Missense_Mutation_p.S638L|FBF1_ENST00000389570.4_Missense_Mutation_p.S639L A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 638 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 TTGCTGGTACGATGTTTCTAG 0.612000 28 26 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142141539 142141539 + Missense_Mutation SNP C C A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:142141539C>A ENST00000264951.4 - 8 969 c.852G>T c.(850-852)ttG>ttT p.L284F XRN1_ENST00000392981.2_Missense_Mutation_p.L284F|XRN1_ENST00000544157.1_Missense_Mutation_p.L74F|XRN1_ENST00000463916.1_Missense_Mutation_p.L284F NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 284 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 GAAACCCCATCAAAATCCAAT 0.318000 19 22 8.34094e-07 8.42843e-07 1 1 0 SFTPD 6441 broad.mit.edu 37 10 81701731 81701731 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:81701731G>A ENST00000372292.3 - 5 569 c.529C>T c.(529-531)Cct>Tct p.P177S NM_003019.4 NP_003010.4 P35247 SFTPD_HUMAN surfactant protein D 177 Collagen-like. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) GTGTTTCCAGGGACTCCACGC 0.637000 25 48 0 0 1 0 0 OAZ3 51686 broad.mit.edu 37 1 151742727 151742727 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:151742727G>A ENST00000315067.8 + 5 591 c.424G>A c.(424-426)Gac>Aac p.D142N OAZ3_ENST00000400999.1_Silent_p.T4T|OAZ3_ENST00000453029.2_Missense_Mutation_p.D155N|OAZ3_ENST00000321531.5_Missense_Mutation_p.D142N|OAZ3_ENST00000479764.1_Silent_p.T4T Q9UMX2 OAZ3_HUMAN ornithine decarboxylase antizyme 3 139 cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis cytosol|nucleus ornithine decarboxylase inhibitor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(4) 9 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) L-Ornithine(DB00129) TGATCGGAACGACAGAGGTGG 0.473000 40 78 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175355367 175355367 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:175355367G>A ENST00000367674.1 - 8 2286 c.1578C>T c.(1576-1578)ccC>ccT p.P526P TNR_ENST00000263525.2_Silent_p.P526P NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 526 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TGGCTCGAGGGGGAATCCACT 0.542000 6 13 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7169808 7169808 + Nonsense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:7169808G>A ENST00000406697.1 + 6 663 c.35G>A c.(34-36)tGg>tAg p.W12* C1S_ENST00000402681.3_Intron|C1S_ENST00000328916.3_Nonsense_Mutation_p.W12*|C1S_ENST00000360817.5_Nonsense_Mutation_p.W12* P09871 C1S_HUMAN complement component 1, s subcomponent 12 complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) CTTTTGGCATGGGTTTATGCT 0.493000 14 22 0 0 1 0 0 PODN 127435 broad.mit.edu 37 1 53544219 53544219 + Missense_Mutation SNP G G A rs148954257 byFrequency TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:53544219G>A ENST00000371500.3 + 10 1465 c.1124G>A c.(1123-1125)cGg>cAg p.R375Q PODN_ENST00000395871.2_Missense_Mutation_p.R252Q|PODN_ENST00000312553.5_Missense_Mutation_p.R394Q|RP11-334A14.5_ENST00000447867.1_RNA NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 346 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AACCAGCTGCGGGAGCAGGGC 0.652000 9 28 0 0 1 0 0 IGLJ2 28832 broad.mit.edu 37 22 23241807 23241807 + RNA SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr22:23241807C>T ENST00000390322.2 + 0 147 GTGTGGTATTCGGCGGAGGGA 0.562000 16 79 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883943 228883943 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:228883943C>T ENST00000392056.3 - 7 1673 c.1627G>A c.(1627-1629)Gga>Aga p.G543R SPHKAP_ENST00000344657.5_Missense_Mutation_p.G543R NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 543 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TCCTTGAGTCCTTGGGGTGCT 0.527000 24 43 0 0 1 0 0 BDNF 627 broad.mit.edu 37 11 27679378 27679378 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:27679378C>T ENST00000525528.1 - 1 1827 c.734G>A c.(733-735)aGg>aAg p.R245K BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000525950.1_Missense_Mutation_p.R245K|BDNF_ENST00000533131.1_Missense_Mutation_p.R245K|BDNF_ENST00000395978.3_Missense_Mutation_p.R245K|BDNF_ENST00000420794.1_Missense_Mutation_p.R245K|BDNF_ENST00000314915.6_Missense_Mutation_p.R253K|BDNF_ENST00000395980.2_Missense_Mutation_p.R245K|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.R327K|BDNF_ENST00000533246.1_Missense_Mutation_p.R245K|BDNF_ENST00000395983.3_Missense_Mutation_p.R245K|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.R245K|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395986.2_Missense_Mutation_p.R260K|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000395981.3_Missense_Mutation_p.R245K|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.R245K|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000532997.1_Missense_Mutation_p.R245K|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000356660.4_Missense_Mutation_p.R245K|BDNF_ENST00000418212.1_Missense_Mutation_p.R245K NM_170735.5 NP_733931.1 P23560 BDNF_HUMAN brain-derived neurotrophic factor 245 extracellular region growth factor activity breast(1)|large_intestine(3)|lung(2) 6 CTATCTTCCCCTTTTAATGGT 0.338000 23 48 0 0 1 0 0 MIDN 90007 broad.mit.edu 37 19 1254977 1254977 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:1254977C>T ENST00000300952.2 + 6 1288 c.773C>T c.(772-774)cCt>cTt p.P258L MIDN_ENST00000591446.2_Missense_Mutation_p.P258L NM_177401.4 NP_796375.3 Q504T8 MIDN_HUMAN midnolin 258 nucleolus NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGGCCAGCCCTGCCCCCCGC 0.652000 56 65 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 5 54 0 0 1 0 0 RNF165 494470 broad.mit.edu 37 18 44030261 44030261 + Silent SNP C C G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr18:44030261C>G ENST00000269439.7 + 5 669 c.618C>G c.(616-618)gtC>gtG p.V206V RNF165_ENST00000543885.1_Silent_p.V14V NM_152470.2 NP_689683.2 Q6ZSG1 RN165_HUMAN ring finger protein 165 206 zinc ion binding NS(1)|large_intestine(4)|lung(6) 11 READ - Rectum adenocarcinoma(1;0.0873) CCCAACAGGTCGTCCATGAAA 0.522000 18 20 0 0 1 0 0 PAH 5053 broad.mit.edu 37 12 103232983 103232983 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:103232983G>A ENST00000553106.1 - 13 1801 c.1329C>T c.(1327-1329)atC>atT p.I443I PAH_ENST00000307000.2_Silent_p.I438I NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 443 catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) CACTGCAAAGGATTCCAATTT 0.403000 9 20 0 0 1 0 0 CERKL 375298 broad.mit.edu 37 2 182412343 182412343 + Splice_Site SNP A A G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:182412343A>G ENST00000410087.3 - 10 1369 c.e10+1 CERKL_ENST00000374970.2_Splice_Site|CERKL_ENST00000409440.3_Splice_Site|CERKL_ENST00000479558.1_Splice_Site|CERKL_ENST00000374969.2_Splice_Site|CERKL_ENST00000339098.5_Splice_Site NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) ATGCTTACTAACCTGGTATTA 0.388000 15 24 0 0 1 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110032592 110032592 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:110032592C>T ENST00000369870.3 + 8 1093 c.1078C>T c.(1078-1080)Ccc>Tcc p.P360S NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 360 breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) TGATGAAGGCCCCTGTGGTGG 0.632000 47 87 0 0 1 0 0 OR10J1 26476 broad.mit.edu 37 1 159410425 159410425 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:159410425C>T ENST00000423932.3 + 1 914 c.877C>T c.(877-879)Ccc>Tcc p.P293S RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 293 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TGTCATCACTCCCCTACTGAA 0.507000 21 35 0 0 1 0 0 CHIT1 1118 broad.mit.edu 37 1 203192268 203192268 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:203192268G>A ENST00000367229.1 - 6 634 c.600C>T c.(598-600)atC>atT p.I200I CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000535569.1_Silent_p.I191I|CHIT1_ENST00000255427.3_Silent_p.I181I NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 200 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 CTCACTGGGCGATTTTGTCCA 0.572000 52 67 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115428173 115428173 + Silent SNP T T C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:115428173T>C ENST00000369522.3 + 13 1168 c.928T>C c.(928-930)Tta>Cta p.L310L SYCP1_ENST00000369518.1_Silent_p.L310L NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 310 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGTGAAAACTTAAAACAATC 0.264000 10 18 0 0 1 0 0 HYAL3 8372 broad.mit.edu 37 3 50332308 50332308 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:50332308G>A ENST00000336307.1 - 2 998 c.726C>T c.(724-726)ttC>ttT p.F242F HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000359051.3_Silent_p.F242F|HYAL3_ENST00000450982.1_Silent_p.F242F|HYAL3_ENST00000415204.1_Intron NM_001200029.1|NM_003549.3 NP_001186958.1|NP_003540.2 O43820 HYAL3_HUMAN hyaluronoglucosaminidase 3 242 carbohydrate metabolic process extracellular region|lysosome hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) AGATGCTGGGGAAGAGGGCAC 0.642000 17 24 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87148690 87148690 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:87148690C>T ENST00000265724.3 - 24 3296 c.2879G>A c.(2878-2880)gGa>gAa p.G960E ABCB1_ENST00000543898.1_Missense_Mutation_p.G896E|ABCB1_ENST00000488737.2_5'UTR NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 960 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CAAGTAGGCTCCAAACCGGAA 0.383000 10 36 0 0 1 0 0 HIF3A 64344 broad.mit.edu 37 19 46832714 46832714 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:46832714C>T ENST00000339613.2 + 12 1778 c.1523C>T c.(1522-1524)cCc>cTc p.P508L HIF3A_ENST00000377670.4_Missense_Mutation_p.P564L|HIF3A_ENST00000300862.3_Missense_Mutation_p.P562L|HIF3A_ENST00000244303.6_Missense_Mutation_p.P495L|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.P495L|HIF3A_ENST00000420102.2_Missense_Mutation_p.P513L|HIF3A_ENST00000472815.1_Intron Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 564 ODD. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) GCATCCTCTCCCATGGCTGGG 0.662000 9 5 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67062008 67062008 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:67062008C>T ENST00000315962.4 + 5 1105 c.732C>T c.(730-732)gtC>gtT p.V244V TRIM55_ENST00000276573.7_Silent_p.V244V|TRIM55_ENST00000353317.5_Silent_p.V244V|TRIM55_ENST00000350034.4_Intron NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 244 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) TGGAACATGTCCGTGCTCTGA 0.418000 14 58 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168175341 168175341 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:168175341G>A ENST00000519560.1 - 20 2655 c.2236C>T c.(2236-2238)Ctc>Ttc p.L746F SLIT3_ENST00000404867.3_Missense_Mutation_p.L746F|SLIT3_ENST00000332966.8_Missense_Mutation_p.L746F NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 746 LRRNT 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCTCTGGGGAGGGCGCGGAGC 0.617000 31 47 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50857580 50857580 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:50857580G>A ENST00000395562.2 + 11 1632 c.1163G>A c.(1162-1164)cGa>cAa p.R388Q CHAT_ENST00000455728.2_Missense_Mutation_p.R352Q|CHAT_ENST00000395559.2_Missense_Mutation_p.R352Q|CHAT_ENST00000337653.2_Missense_Mutation_p.R470Q|CHAT_ENST00000351556.3_Missense_Mutation_p.R352Q|CHAT_ENST00000339797.1_Missense_Mutation_p.R352Q NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 470 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) AAGCTGATCCGAGCAGACTCC 0.617000 29 28 0 0 1 0 0 SLC39A4 55630 broad.mit.edu 37 8 145641348 145641348 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:145641348G>A ENST00000276833.5 - 1 548 c.245C>T c.(244-246)cCc>cTc p.P82L SLC39A4_ENST00000301305.3_Missense_Mutation_p.P107L NM_017767.2 NP_060237.2 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), member 4 107 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) GGTGCCCTCGGGGTTGCTGAG 0.736000 14 4 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37491995 37491995 + Silent SNP G G T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr22:37491995G>T ENST00000381792.2 - 5 680 c.540C>A c.(538-540)gtC>gtA p.V180V TMPRSS6_ENST00000346753.3_Silent_p.V189V|TMPRSS6_ENST00000406856.1_Silent_p.V180V|TMPRSS6_ENST00000406725.1_Silent_p.V180V|TMPRSS6_ENST00000442782.2_Silent_p.V189V Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 189 angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 CCCTGTAGGGGACGGCAGCCG 0.637000 23 38 5.35356e-11 5.43824e-11 1 1 0 CYP1A1 1543 broad.mit.edu 37 15 75013610 75013610 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:75013610G>A ENST00000379727.3 - 5 1294 c.1096C>T c.(1096-1098)Ccc>Tcc p.P366S CYP1A1_ENST00000564596.1_Missense_Mutation_p.P105S|CYP1A1_ENST00000567032.1_Missense_Mutation_p.P366S|CYP1A1_ENST00000395048.2_Missense_Mutation_p.P366S|CYP1A1_ENST00000395049.4_Missense_Mutation_p.P366S P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 1 366 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) TCCATATAGGGCAGATGGGAT 0.597000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 18 61 0 0 1 0 0 UGT2B15 7366 broad.mit.edu 37 4 69519901 69519901 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:69519901G>A ENST00000338206.5 - 5 1176 c.1167C>T c.(1165-1167)atC>atT p.I389I NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 389 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity CCACCATAGGGATCCCATGGT 0.448000 33 83 0 0 1 0 0 CTSE 1510 broad.mit.edu 37 1 206328787 206328787 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:206328787C>T ENST00000361052.3 + 7 987 c.869C>T c.(868-870)tCc>tTc p.S290F CTSE_ENST00000358184.2_Missense_Mutation_p.S285F|CTSE_ENST00000432969.2_Intron|CTSE_ENST00000360218.2_Intron P14091 CATE_HUMAN cathepsin E 290 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3) 16 BRCA - Breast invasive adenocarcinoma(75;0.0754) ACAGGGACTTCCCTCATCACT 0.607000 13 32 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141794549 141794549 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:141794549G>A ENST00000475668.2 + 63 7398 c.7344G>A c.(7342-7344)acG>acA p.T2448T MGAM_ENST00000549489.2_Silent_p.T1552T O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1552 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGTTTCAGACGGGAGCAGATA 0.473000 13 30 0 0 1 0 0 FAS 355 broad.mit.edu 37 10 90770317 90770317 + Missense_Mutation SNP G G C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:90770317G>C ENST00000355740.2 + 5 685 c.465G>C c.(463-465)aaG>aaC p.K155N FAS_ENST00000357339.2_Missense_Mutation_p.K155N|FAS_ENST00000355279.2_Missense_Mutation_p.K155N|FAS_ENST00000352159.4_Missense_Mutation_p.K155N|FAS_ENST00000313771.5_3'UTR NM_000043.4|NM_152871.2|NM_152872.2 NP_000034.1|NP_690610.1|NP_690611.1 P25445 TNR6_HUMAN Fas cell surface death receptor 155 activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) GAATCATCAAGGAATGCACAC 0.358000 16 19 0 0 1 0 0 SLC27A1 376497 broad.mit.edu 37 19 17611525 17611525 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:17611525C>T ENST00000252595.7 + 10 1573 c.1476C>T c.(1474-1476)gaC>gaT p.D492D SLC27A1_ENST00000442725.1_Silent_p.D492D|SLC27A1_ENST00000598424.1_Silent_p.D313D|SLC27A1_ENST00000598848.1_Intron|CTD-3131K8.2_ENST00000596643.1_lincRNA NM_198580.1 NP_940982.1 Q6PCB7 S27A1_HUMAN solute carrier family 27 (fatty acid transporter), member 1 492 cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding p.D492E(2) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TGCCAGGTGACGTGCTAGTGA 0.657000 9 40 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 223988497 223988497 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:223988497G>A ENST00000391878.2 - 11 1622 c.854C>T c.(853-855)cCa>cTa p.P285L TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.P414L NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 408 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) AGGGCCAACTGGATGGATTTT 0.398000 10 18 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98741867 98741867 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:98741867C>T ENST00000286067.2 + 1 827 c.720C>T c.(718-720)gcC>gcT p.A240A NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 240 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) CAATTCCAGCCCCTAGACATA 0.493000 11 36 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175938 140175938 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:140175938C>T ENST00000526136.1 + 1 1389 c.1389C>T c.(1387-1389)ttC>ttT p.F463F PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.F463F|PCDHA2_ENST00000520672.2_Silent_p.F463F NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACAGTATTCGTGAAGGAGA 0.647000 32 47 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20489930 20489930 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:20489930C>T ENST00000573854.1 + 10 1326 c.1212C>T c.(1210-1212)ccC>ccT p.P404P ACSM2A_ENST00000219054.6_Silent_p.P404P|ACSM2A_ENST00000417235.2_Silent_p.P325P|ACSM2A_ENST00000536134.1_Silent_p.P176P|ACSM2A_ENST00000396104.2_Silent_p.P404P|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Silent_p.P404P NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 404 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 TCCTGCCCCCCGGCACAGAAG 0.507000 11 17 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18776857 18776857 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:18776857G>A ENST00000380548.4 + 19 2969 c.2630G>A c.(2629-2631)aGg>aAg p.R877K NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 877 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) CGCAGGCAGAGGAAGCTGCAC 0.687000 5 1 0 0 1 0 0 SLC35E1 79939 broad.mit.edu 37 19 16677451 16677451 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:16677451C>T ENST00000409035.1 - 5 1489 c.1229G>A c.(1228-1230)gGa>gAa p.G410E SLC35E1_ENST00000595753.1_Silent_p.R216R|SLC35E1_ENST00000431408.1_Silent_p.R60R GATGGTGGATCCGTGAATCTC 0.537000 47 48 0 0 1 0 0 COL28A1 340267 broad.mit.edu 37 7 7483233 7483233 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:7483233C>T ENST00000399429.3 - 20 1773 c.1633G>A c.(1633-1635)Gga>Aga p.G545R NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 545 Collagen-like 5. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) CCAGGCTGTCCTTTTCCAGGT 0.512000 10 27 0 0 1 0 0 ANKS4B 257629 broad.mit.edu 37 16 21262098 21262098 + Missense_Mutation SNP A A C TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:21262098A>C ENST00000311620.5 + 2 1284 c.1211A>C c.(1210-1212)cAg>cCg p.Q404P NM_145865.2 NP_665872.2 Q8N8V4 ANS4B_HUMAN ankyrin repeat and sterile alpha motif domain containing 4B 404 NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2) 20 GBM - Glioblastoma multiforme(48;0.0565) AGGAGGAAGCAGGTGCTTCAA 0.557000 21 62 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28250509 28250509 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:28250509C>T ENST00000305242.5 - 10 1466 c.1374G>A c.(1372-1374)gtG>gtA p.V458V ARMC4_ENST00000537576.1_Silent_p.V150V|ARMC4_ENST00000239715.3_Silent_p.V315V|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 458 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TTAAATATTTCACCAGCTTCT 0.378000 19 28 0 0 1 0 0 SGMS1 259230 broad.mit.edu 37 10 52103295 52103295 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr10:52103295G>A ENST00000361781.2 - 7 1539 c.580C>T c.(580-582)Ctt>Ttt p.L194F SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.L194F NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 200 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 AGTCCTACAAGGATCATGCCA 0.413000 14 10 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41550967 41550967 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr21:41550967G>A ENST00000400454.1 - 15 3311 c.2834C>T c.(2833-2835)gCc>gTc p.A945V NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 945 Fibronectin type-III 1. 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) AATGATGGTGGCCGAGTTCAG 0.498000 7 24 0 0 1 0 0 FAM83C 128876 broad.mit.edu 37 20 33875363 33875363 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:33875363G>A ENST00000374408.3 - 4 1315 c.1219C>T c.(1219-1221)Cct>Tct p.P407S NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 407 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) TAGAGCCCAGGAGGGGAGCCG 0.627000 9 16 0 0 1 0 0 SENP1 29843 broad.mit.edu 37 12 48491775 48491775 + Splice_Site SNP A A G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:48491775A>G ENST00000339976.6 - 3 614 c.e3+1 SENP1_ENST00000549595.1_Splice_Site|SENP1_ENST00000549518.1_Splice_Site|SENP1_ENST00000004980.5_Splice_Site|SENP1_ENST00000551330.1_Splice_Site|SENP1_ENST00000448372.1_Splice_Site Q9P0U3 SENP1_HUMAN SUMO1/sentrin specific peptidase 1 activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) ATTGCTCCTAACCTGCTGGTC 0.393000 8 11 0 0 1 0 0 WDR70 55100 broad.mit.edu 37 5 37396594 37396594 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:37396594C>T ENST00000265107.4 + 5 570 c.414C>T c.(412-414)atC>atT p.I138I WDR70_ENST00000504564.1_Silent_p.I138I NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 138 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGGAAGATATCCTCGGTCCTT 0.403000 17 16 0 0 1 0 0 ECT2 1894 broad.mit.edu 37 3 172520438 172520438 + Missense_Mutation SNP C C G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:172520438C>G ENST00000417960.1 + 19 2321 c.1844C>G c.(1843-1845)gCt>gGt p.A615G ECT2_ENST00000427830.1_Missense_Mutation_p.A616G|ECT2_ENST00000540509.1_Missense_Mutation_p.A647G|ECT2_ENST00000441497.2_Missense_Mutation_p.A616G|ECT2_ENST00000232458.5_Missense_Mutation_p.A616G|ECT2_ENST00000392692.3_Missense_Mutation_p.A647G NM_001258316.1 NP_001245245.1 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 616 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) AAAACAGAAGCTCAAAAGCAA 0.264000 6 17 0 0 1 0 0 UMODL1 89766 broad.mit.edu 37 21 43519064 43519064 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr21:43519064C>T ENST00000400427.1 + 7 1140 c.744C>T c.(742-744)gtC>gtT p.V248V UMODL1_ENST00000400424.1_Silent_p.V248V|UMODL1_ENST00000408910.2_Silent_p.V320V|UMODL1_ENST00000408989.2_Silent_p.V320V NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 320 cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 ACTACGTGGTCCTCAACGTCA 0.488000 34 56 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20994162 20994162 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:20994162G>A ENST00000261383.3 - 49 7739 c.7740C>T c.(7738-7740)ttC>ttT p.F2580F DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2580 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCAGCGAAGGGAACATCCGCA 0.493000 19 35 0 0 1 0 0 CYP2W1 54905 broad.mit.edu 37 7 1026358 1026358 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:1026358G>A ENST00000340150.6 + 5 598 c.576G>A c.(574-576)ctG>ctA p.L192L CYP2W1_ENST00000308919.7_Silent_p.L248L Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, polypeptide 1 248 xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen breast(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) GGACCCTCCTGGAGGCGCGGA 0.672000 11 17 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11143992 11143992 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:11143992C>T ENST00000358026.2 + 26 3857 c.3573C>T c.(3571-3573)caC>caT p.H1191H SMARCA4_ENST00000444061.3_Silent_p.H1191H|SMARCA4_ENST00000344626.4_Silent_p.H1191H|SMARCA4_ENST00000413806.3_Silent_p.H1191H|SMARCA4_ENST00000541122.2_Silent_p.H1191H|SMARCA4_ENST00000590574.1_Silent_p.H1191H|SMARCA4_ENST00000429416.3_Silent_p.H1191H|SMARCA4_ENST00000589677.1_Silent_p.H1191H|SMARCA4_ENST00000450717.3_Silent_p.H1191H NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1191 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) ACCGAGCCCACCGCATCGGGC 0.612000 """F, N, Mis""" NSCLC 54 70 0 0 1 0 0 TMPRSS3 64699 broad.mit.edu 37 21 43809058 43809058 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr21:43809058C>T ENST00000291532.3 - 4 1257 c.302G>A c.(301-303)gGg>gAg p.G101E TMPRSS3_ENST00000433957.2_Missense_Mutation_p.G101E|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.G101E|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.G99E|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.G185E NM_032404.2 NP_115780.1 P57727 TMPS3_HUMAN transmembrane protease, serine 3 101 LDL-receptor class A. cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 CTCGTCCTCCCCGTCTTTGCA 0.537000 7 22 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100232746 100232746 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:100232746G>A ENST00000305046.8 - 7 963 c.896C>T c.(895-897)tCc>tTc p.S299F ADH1B_ENST00000394887.3_Missense_Mutation_p.S259F P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 299 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) GAGGTTCTGGGAAGCAGGAGG 0.483000 37 62 0 0 1 0 0 PPP1R16A 84988 broad.mit.edu 37 8 145724154 145724154 + Splice_Site SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:145724154C>T ENST00000292539.4 + 3 1178 c.259_splice c.e3-1 p.V87_splice PPP1R16A_ENST00000435887.1_Splice_Site_p.V87_splice|CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory subunit 16A 87 plasma membrane protein binding NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TTTTTGCAGTCCGCCAGTTCC 0.647000 4 37 0 0 1 0 0 OR5B2 390190 broad.mit.edu 37 11 58190386 58190386 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:58190386C>T ENST00000302581.2 - 1 400 c.349G>A c.(349-351)Gcc>Acc p.A117T NM_001005566.2 NP_001005566.1 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, member 2 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Esophageal squamous(5;0.0027) Breast(21;0.0778) CGGTCATAGGCCATTGAGGCC 0.517000 13 19 0 0 1 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36096937 36096937 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:36096937G>A ENST00000258840.6 - 34 5229 c.4839C>T c.(4837-4839)acC>acT p.T1613T RALGAPA1_ENST00000307138.6_Silent_p.T1566T|RALGAPA1_ENST00000389698.3_Silent_p.T1566T|RALGAPA1_ENST00000382366.3_Silent_p.T1579T Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 1566 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 aggacactaaggttgtattat 0.388000 15 21 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31617569 31617569 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:31617569G>A ENST00000319386.3 + 8 1684 c.691G>A c.(691-693)Gag>Aag p.E231K CCDC129_ENST00000451887.2_Missense_Mutation_p.E257K|CCDC129_ENST00000409210.1_Missense_Mutation_p.E139K|CCDC129_ENST00000407970.3_Missense_Mutation_p.E231K Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 231 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 CAGAGCTGAAGAGAAAGCTGG 0.493000 7 12 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30507826 30507826 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:30507826C>T ENST00000356798.6 + 15 1951 c.1771C>T c.(1771-1773)Ctt>Ttt p.L591F ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.L508F NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 591 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GGTGAAGGACCTTGAAGGGGA 0.557000 17 33 0 0 1 0 0 DYNAP 284254 broad.mit.edu 37 18 52262290 52262290 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr18:52262290C>T ENST00000321600.1 + 2 302 c.256C>T c.(256-258)Ctt>Ttt p.L86F DYNAP_ENST00000585973.1_Intron NM_173629.1 NP_775900.1 dynactin associated protein CCCAGGAATCCTTGCACATTC 0.458000 32 43 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167805771 167805771 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:167805771C>T ENST00000367848.1 - 23 3306 c.2809G>A c.(2809-2811)Gaa>Aaa p.E937K ADCY10_ENST00000367851.4_Missense_Mutation_p.E1029K|ADCY10_ENST00000545172.1_Missense_Mutation_p.E876K|ADCY10_ENST00000485964.1_Intron Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1029 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TCTCTTATTTCTTCAGGACTG 0.363000 29 23 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121712276 121712276 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:121712276C>T ENST00000273691.3 - 6 1293 c.1188G>A c.(1186-1188)agG>agA p.R396R ILDR1_ENST00000462014.1_Silent_p.R408R|ILDR1_ENST00000393631.1_Silent_p.R351R|ILDR1_ENST00000344209.5_Silent_p.R440R|ILDR1_ENST00000460554.1_5'UTR NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 440 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) GACAGCGGCTCCTGAAAGGAG 0.667000 6 12 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784402 82784402 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:82784402G>A ENST00000423517.2 - 2 1892 c.1555C>T c.(1555-1557)Ccc>Tcc p.P519S PCLO_ENST00000333891.8_Missense_Mutation_p.P519S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 465 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGAGGTGAGGGCTTTGCTGGG 0.597000 110 115 0 0 1 0 0 GABRB1 2560 broad.mit.edu 37 4 47408856 47408856 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:47408856C>T ENST00000295454.3 + 8 1285 c.993C>T c.(991-993)ttC>ttT p.F331F GABRB1_ENST00000538619.1_Silent_p.F261F NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 331 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ATTACATCTTCTTTGGGAAAG 0.398000 17 35 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179437748 179437748 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:179437748C>T ENST00000367618.3 + 17 2356 c.1969C>T c.(1969-1971)Cca>Tca p.P657S AXDND1_ENST00000457238.2_3'UTR|AXDND1_ENST00000461179.2_3'UTR NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 657 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 TGGTATTGTTCCACAGCACAT 0.333000 9 25 0 0 1 0 0 RP11-44F14.1 0 broad.mit.edu 37 16 53403416 53403416 + RNA SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr16:53403416C>T ENST00000565421.1 - 0 1201 CAGAATTTTTCTTTACATTTA 0.323000 3 0 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561983 11561983 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:11561983C>T ENST00000294484.6 + 2 1072 c.934C>T c.(934-936)Cgg>Tgg p.R312W PTCHD2_ENST00000389575.3_Missense_Mutation_p.R312W NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 312 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) CCCAGGCTTCCGGGAGTTCTG 0.617000 16 5 0 0 1 0 0 SCRN1 9805 broad.mit.edu 37 7 29976244 29976244 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:29976244C>T ENST00000426154.1 - 6 1009 c.833G>A c.(832-834)gGa>gAa p.G278E SCRN1_ENST00000242059.5_Missense_Mutation_p.G278E|SCRN1_ENST00000409497.1_Missense_Mutation_p.G278E|SCRN1_ENST00000416113.2_Missense_Mutation_p.G104E NM_001145513.1 NP_001138985.1 Q12765 SCRN1_HUMAN secernin 1 278 exocytosis|proteolysis cytoplasm|nuclear membrane dipeptidase activity breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2) 25 GACAGACACTCCACTGGCTGT 0.522000 26 44 0 0 1 0 0 IRF2BPL 64207 broad.mit.edu 37 14 77492270 77492270 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:77492270G>A ENST00000238647.3 - 1 2764 c.1866C>T c.(1864-1866)tcC>tcT p.S622S NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 622 Pro-rich. nucleus endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 CGGCCATAGGGGACGGACCGT 0.701000 6 7 0 0 1 0 0 AQP1 358 broad.mit.edu 37 7 30963079 30963079 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:30963079G>A ENST00000311813.4 + 4 700 c.645G>A c.(643-645)ggG>ggA p.G215G AQP1_ENST00000434909.2_Silent_p.G275G|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000509504.1_Silent_p.G392G|AQP1_ENST00000441328.2_Silent_p.G132G|AQP1_ENST00000409611.1_Silent_p.G164G|AQP1_ENST00000409899.1_Silent_p.G100G NM_198098.2 NP_932766.1 aquaporin 1 p.G132G(1)|p.G215G(1) kidney(1)|large_intestine(2)|lung(9) 12 Melanoma(862;0.16) TCTGGGTGGGGCCATTCATCG 0.612000 15 12 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20404502 20404502 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr14:20404502G>A ENST00000285600.4 + 1 736 c.677G>A c.(676-678)cGa>cAa p.R226Q NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) ATCGGTGTCCGATGCAGGTCC 0.413000 14 76 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52554068 52554068 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:52554068C>T ENST00000321725.6 + 51 5420 c.5344C>T c.(5344-5346)Ctg>Ttg p.L1782L NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1782 FAS1 6. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CCAGGCCTGGCTGTACCATGA 0.622000 13 21 0 0 1 0 0 NFE2 4778 broad.mit.edu 37 12 54686796 54686796 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:54686796C>T ENST00000540264.2 - 2 993 c.484G>A c.(484-486)Ggg>Agg p.G162R NFE2_ENST00000435572.2_Missense_Mutation_p.G162R|NFE2_ENST00000312156.4_Missense_Mutation_p.G162R|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.G162R Q16621 NFE2_HUMAN nuclear factor, erythroid 2 162 Transactivation domain. blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 GCCTCTGTCCCCTCCAGCTCA 0.557000 32 69 0 0 1 0 0 RFC3 5983 broad.mit.edu 37 13 34410403 34410403 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr13:34410403G>A ENST00000380071.3 + 9 1172 c.1042G>A c.(1042-1044)Gag>Aag p.E348K RFC3_ENST00000434425.1_Intron NM_002915.3 NP_002906.1 P40938 RFC3_HUMAN replication factor C (activator 1) 3, 38kDa 348 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding lung(2)|skin(1) 3 Hepatocellular(188;0.0191)|Lung SC(185;0.0548) all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123) GAAGTTCATGGAGGATGGATT 0.398000 96 12 0 0 1 0 0 CCDC62 84660 broad.mit.edu 37 12 123286354 123286354 + Missense_Mutation SNP C C A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:123286354C>A ENST00000253079.6 + 9 2005 c.1661C>A c.(1660-1662)aCc>aAc p.T554N CCDC62_ENST00000537566.1_Missense_Mutation_p.T315N|CCDC62_ENST00000392440.2_Missense_Mutation_p.T315N|CCDC62_ENST00000392441.4_Missense_Mutation_p.T554N NM_201435.4 NP_958843.2 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 554 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) TCTGGGTGCACCTGTTCAGAA 0.488000 86 140 6.00224e-42 6.17312e-42 1 1 0 POLR2I 5438 broad.mit.edu 37 19 36605722 36605722 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:36605722C>T ENST00000221859.4 - 1 526 c.37G>A c.(37-39)Ggt>Agt p.G13S NM_006233.4 NP_006224.1 P36954 RPB9_HUMAN polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa 13 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|zinc ion binding kidney(1)|large_intestine(1)|ovary(1) 3 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) AAGCGAATACCCACGAAGCCC 0.682000 65 69 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141643791 141643791 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:141643791C>T ENST00000389484.3 - 24 4851 c.3880G>A c.(3880-3882)Gat>Aat p.D1294N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1294 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AAGTGAAAATCAAGTGCTATT 0.338000 TSP Lung(27;0.18) 13 15 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102300666 102300666 + RNA SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:102300666G>A ENST00000561463.1 + 0 8712 ACTCGCATCGGAACCTGCAGA 0.597000 7 17 0 0 1 0 0 POLR2I 5438 broad.mit.edu 37 19 36605721 36605721 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:36605721C>T ENST00000221859.4 - 1 527 c.38G>A c.(37-39)gGt>gAt p.G13D NM_006233.4 NP_006224.1 P36954 RPB9_HUMAN polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa 13 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|zinc ion binding kidney(1)|large_intestine(1)|ovary(1) 3 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GAAGCGAATACCCACGAAGCC 0.682000 65 69 0 0 1 0 0 RAET1E 135250 broad.mit.edu 37 6 150211183 150211183 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:150211183G>A ENST00000532335.1 - 3 530 c.184C>T c.(184-186)Ctt>Ttt p.L62F RAET1E_ENST00000357183.4_Missense_Mutation_p.L62F|RAET1E_ENST00000367363.3_Intron|RP11-244K5.1_ENST00000605899.1_RNA|RAET1E_ENST00000529948.1_Missense_Mutation_p.L62F|RP11-244K5.8_ENST00000606915.1_RNA NM_001243328.1 NP_001230257.1 Q8TD07 N2DL4_HUMAN retinoic acid early transcript 1E 62 MHC class I alpha-1 like. antigen processing and presentation|immune response|regulation of immune response integral to membrane|MHC class I protein complex protein binding cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) TTGTACTGAAGGAAAAGATTT 0.478000 10 11 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78440578 78440578 + Silent SNP G G T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:78440578G>T ENST00000278550.7 - 22 3711 c.3249C>A c.(3247-3249)acC>acA p.T1083T NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TGAAGGGGATGGTCGGGTGGG 0.567000 10 19 0.0581538 0.0582546 1 1 0 TCTE1 202500 broad.mit.edu 37 6 44253779 44253779 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr6:44253779G>A ENST00000371505.4 - 3 890 c.768C>T c.(766-768)ttC>ttT p.F256F TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Silent_p.F103F|TCTE1_ENST00000371503.3_Silent_p.F103F NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 256 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GATTCCACTCGAAATTCATGC 0.582000 25 49 0 0 1 0 0 FILIP1L 11259 broad.mit.edu 37 3 99569317 99569317 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:99569317C>T ENST00000331335.5 - 5 1673 c.1203G>A c.(1201-1203)aaG>aaA p.K401K CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000383694.2_Silent_p.K161K|FILIP1L_ENST00000471562.1_Silent_p.K161K|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000354552.3_Silent_p.K401K NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 401 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 TTTCAAGCCTCTTATTGAGAT 0.408000 57 82 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82474650 82474650 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:82474650G>A ENST00000423517.2 - 13 14320 c.13983C>T c.(13981-13983)tcC>tcT p.S4661S PCLO_ENST00000333891.8_Silent_p.S4661S|PCLO_ENST00000426442.2_5'UTR NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4549 C2 1. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCTGGGAACGGAACTGGATC 0.512000 19 17 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50158908 50158908 + Splice_Site SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:50158908C>T ENST00000371564.3 - 1 350 c.e1+1 NFATC2_ENST00000396009.3_Splice_Site|NFATC2_ENST00000414705.1_Intron NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CCTCCACCGACCTTCGTTCGG 0.667000 15 9 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61542407 61542407 + Silent SNP A A G TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr20:61542407A>G ENST00000266070.4 - 3 883 c.558T>C c.(556-558)agT>agC p.S186S DIDO1_ENST00000370371.4_Silent_p.S186S|DIDO1_ENST00000395335.2_Silent_p.S186S|DIDO1_ENST00000395340.1_Silent_p.S186S|DIDO1_ENST00000370366.1_Silent_p.S186S|DIDO1_ENST00000370368.1_Silent_p.S186S|DIDO1_ENST00000395343.1_Silent_p.S186S|DIDO1_ENST00000354665.4_Silent_p.S186S|DIDO1_ENST00000266071.5_Silent_p.S186S NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 186 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TCCGCAGGCGACTCTGGATCC 0.637000 19 20 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86383274 86383274 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:86383274C>T ENST00000604798.1 - 6 1255 c.51G>A c.(49-51)atG>atA p.M17I MGAT4C_ENST00000552435.2_Missense_Mutation_p.M17I|MGAT4C_ENST00000549405.2_Missense_Mutation_p.M17I|MGAT4C_ENST00000332156.1_Missense_Mutation_p.M17I|MGAT4C_ENST00000393205.2_Missense_Mutation_p.M46I|MGAT4C_ENST00000552808.2_Missense_Mutation_p.M17I|MGAT4C_ENST00000548651.1_Missense_Mutation_p.M17I Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 17 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 TCAGGCATCTCATTTTATCAA 0.323000 8 17 0 0 1 0 0 ZDHHC17 23390 broad.mit.edu 37 12 77220694 77220694 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:77220694C>T ENST00000426126.2 + 9 1553 c.904C>T c.(904-906)Cgg>Tgg p.R302W ZDHHC17_ENST00000334822.5_Missense_Mutation_p.R302W NM_015336.2 NP_056151.2 Q8IUH5 ZDH17_HUMAN zinc finger, DHHC-type containing 17 302 lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14) 23 ACAGGAATTTCGGCAGAAAGT 0.358000 17 23 0 0 1 0 0 CD276 80381 broad.mit.edu 37 15 73996237 73996237 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:73996237C>T ENST00000318443.5 + 5 1273 c.971C>T c.(970-972)tCc>tTc p.S324F CD276_ENST00000561213.1_Missense_Mutation_p.S324F|CD276_ENST00000537340.2_Missense_Mutation_p.S178F|CD276_ENST00000318424.5_Intron|CD276_ENST00000564751.1_Intron NM_001024736.1 NP_001019907.1 Q5ZPR3 CD276_HUMAN CD276 molecule 324 Ig-like V-type 2. cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation external side of plasma membrane|integral to membrane receptor binding endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 13 GGCAATGCATCCCTGAGGCTG 0.662000 8 19 0 0 1 0 0 PRKCE 5581 broad.mit.edu 37 2 46234779 46234779 + Silent SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr2:46234779G>A ENST00000306156.3 + 9 1569 c.1242G>A c.(1240-1242)ttG>ttA p.L414L PRKCE_ENST00000394874.1_Silent_p.L137L NM_005400.2 NP_005391.1 Q02156 KPCE_HUMAN protein kinase C, epsilon 414 Protein kinase. activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity MBOAT2/PRKCE(2) breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2) 34 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) TCAAGGTGTTGGGCAAAGGCA 0.542000 10 16 0 0 1 0 0 DZIP1L 199221 broad.mit.edu 37 3 137786462 137786462 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:137786462G>A ENST00000327532.2 - 14 2275 c.1913C>T c.(1912-1914)tCc>tTc p.S638F NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 638 intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 CACCATCCTGGAAGGAACTTT 0.622000 14 26 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50760635 50760635 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:50760635C>T ENST00000440075.2 + 18 2171 c.2124C>T c.(2122-2124)ttC>ttT p.F708F MYH14_ENST00000376970.2_Silent_p.F700F|MYH14_ENST00000425460.1_Silent_p.F675F|MYH14_ENST00000596571.1_Silent_p.F667F|MYH14_ENST00000601313.1_Silent_p.F708F|MYH14_ENST00000262269.8_Silent_p.F708F|MYH14_ENST00000598205.1_Silent_p.F675F Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 667 Myosin head-like. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GGGGTATGTTCCGGACAGTGG 0.637000 4 6 0 0 1 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185140 127185140 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:127185140G>A ENST00000371124.3 - 1 1242 c.1046C>T c.(1045-1047)tCt>tTt p.S349F NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 349 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 ACTGCTCATAGAGGTCATGAT 0.473000 42 14 0 0 1 0 0 FAM76A 199870 broad.mit.edu 37 1 28086074 28086074 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:28086074C>T ENST00000373954.6 + 8 875 c.773C>T c.(772-774)tCg>tTg p.S258L FAM76A_ENST00000373949.1_Missense_Mutation_p.S229L|FAM76A_ENST00000530324.1_Missense_Mutation_p.S258L|FAM76A_ENST00000419687.2_Missense_Mutation_p.S178L|FAM76A_ENST00000234549.7_Missense_Mutation_p.S263L|FAM76A_ENST00000010299.6_Missense_Mutation_p.S292L NM_001143912.1|NM_152660.2 NP_001137384.1|NP_689873.1 Q8TAV0 FA76A_HUMAN family with sequence similarity 76, member A 258 endometrium(4)|kidney(2)|large_intestine(1)|lung(2) 9 Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649) TACCAGGAATCGCAGATGAGA 0.383000 12 19 0 0 1 0 0 FKBP9 11328 broad.mit.edu 37 7 33016019 33016019 + Missense_Mutation SNP C C A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr7:33016019C>A ENST00000242209.4 + 4 780 c.611C>A c.(610-612)cCt>cAt p.P204H FKBP9_ENST00000489038.1_Intron|FKBP9_ENST00000538443.1_Missense_Mutation_p.P66H|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.P257H NM_007270.3 NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 204 PPIase FKBP-type 2. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) TGGCTGATTCCTGGAATGGAT 0.468000 28 51 2.61193e-14 2.66495e-14 1 1 0 SLC35G5 83650 broad.mit.edu 37 8 11189031 11189031 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:11189031C>T ENST00000382435.4 + 1 635 c.416C>T c.(415-417)aCc>aTc p.T139I NM_054028.1 NP_473369.1 Q96KT7 AMCL2_HUMAN solute carrier family 35, member G5 139 DUF6 1. integral to membrane GGTTCTTCCACCGTATGCTCC 0.572000 45 72 0 0 1 0 0 FAM83G 644815 broad.mit.edu 37 17 18882028 18882028 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:18882028C>T ENST00000388995.6 - 5 1174 c.951G>A c.(949-951)atG>atA p.M317I FAM83G_ENST00000585154.2_Missense_Mutation_p.M317I|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.M317I|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 317 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 GTTCCTTCTCCATAGGGATGC 0.602000 23 54 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3239744 3239744 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chrX:3239744C>T ENST00000217939.6 - 5 4136 c.3982G>A c.(3982-3984)Gat>Aat p.D1328N NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1328 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GCAACATCATCCTTAATTTCT 0.373000 27 32 0 0 1 0 0 HTR4 3360 broad.mit.edu 37 5 147863877 147863877 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr5:147863877G>A ENST00000360693.3 - 7 1280 c.1142C>T c.(1141-1143)cCa>cTa p.P381L HTR4_ENST00000314512.6_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000377888.3_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000517929.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000362016.2_Intron NM_001040173.2 NP_001035263.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 359 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) GCCTGAGAATGGACCCGCTCT 0.393000 9 11 0 0 1 0 0 CD33 945 broad.mit.edu 37 19 51742803 51742803 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:51742803C>T ENST00000262262.4 + 7 976 c.955C>T c.(955-957)Ccc>Tcc p.P319S CD33_ENST00000600557.1_3'UTR|CD33_ENST00000421133.2_Missense_Mutation_p.P192S NM_001772.3 NP_001763.3 P20138 CD33_HUMAN CD33 molecule 319 cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) GTTACATGGCCCCACTGAAAC 0.522000 15 17 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97454834 97454834 + Silent SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr3:97454834C>T ENST00000389672.5 + 16 3038 c.3000C>T c.(2998-3000)caC>caT p.H1000H NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 905 SAM. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CATCTCTACACCAGCTGATGC 0.453000 8 16 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10363573 10363573 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:10363573G>A ENST00000255381.2 - 13 1323 c.1213C>T c.(1213-1215)Ccc>Tcc p.P405S CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 405 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TTGACTCTGGGATAGCAGAGA 0.453000 15 29 0 0 1 0 0 OR2T6 254879 broad.mit.edu 37 1 248551795 248551795 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:248551795G>A ENST00000355728.2 + 1 886 c.886G>A c.(886-888)Gat>Aat p.D296N NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D296N(1) endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GAGGAACAGGGATGTGATGGG 0.453000 6 11 0 0 1 0 0 KIAA1377 57562 broad.mit.edu 37 11 101832821 101832821 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:101832821C>T ENST00000263468.8 + 6 1325 c.1055C>T c.(1054-1056)cCt>cTt p.P352L KIAA1377_ENST00000537689.1_Missense_Mutation_p.P153L NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 352 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) AATCCATCTCCTTTGAATGGA 0.333000 15 22 0 0 1 0 0 SEC24D 9871 broad.mit.edu 37 4 119745862 119745862 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr4:119745862C>T ENST00000379735.5 - 3 432 c.161G>A c.(160-162)aGg>aAg p.R54K SEC24D_ENST00000280551.6_Missense_Mutation_p.R54K|SEC24D_ENST00000419654.2_5'UTR NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 54 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 CAACATTCCCCTAGTGGCGGT 0.547000 26 51 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79966256 79966256 + Missense_Mutation SNP C C T TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr9:79966256C>T ENST00000360280.3 + 53 7573 c.7313C>T c.(7312-7314)tCc>tTc p.S2438F VPS13A_ENST00000376634.4_Missense_Mutation_p.S2438F|VPS13A_ENST00000376636.3_Missense_Mutation_p.S2399F|VPS13A_ENST00000357409.5_Missense_Mutation_p.S2438F NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 2438 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 ATAGAAGATTCCCTCCCTCCT 0.393000 38 20 0 0 1 0 0 MAP4K2 5871 broad.mit.edu 37 11 64567094 64567094 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:64567094G>A ENST00000294066.2 - 13 1068 c.977C>T c.(976-978)aCc>aTc p.T326I MAP4K2_ENST00000377350.3_Missense_Mutation_p.T326I NM_004579.3 NP_004570.2 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase kinase 2 326 activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2) 8 CTCCGAGGGGGTCCTCTCGGC 0.572000 5 10 0 0 1 0 0 ZBTB16 7704 broad.mit.edu 37 11 113934732 113934732 + Missense_Mutation SNP G G A TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr11:113934732G>A ENST00000335953.4 + 2 1090 c.710G>A c.(709-711)gGg>gAg p.G237E ZBTB16_ENST00000392996.2_Missense_Mutation_p.G237E NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 237 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding p.G237V(1) central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) CGGCACCCTGGGGTGGCTGAG 0.642000 8 8 0 0 1 0 0 HNRNPR 10236 broad.mit.edu 37 1 23637421 23637432 + In_Frame_Del DEL ACCATAGTAATC ACCATAGTAATC - TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:23637421_23637432delACCATAGTAATC ENST00000478691.1 - 10 1394_1405 c.1123_1134delGATTACTATGGT c.(1123-1134)del p.DYYG375del HNRNPR_ENST00000426846.2_In_Frame_Del_p.DYYG313del|HNRNPR_ENST00000427764.2_In_Frame_Del_p.DYYG435del|HNRNPR_ENST00000302271.6_In_Frame_Del_p.DYYG473del|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000606561.1_In_Frame_Del_p.DYYG334del|HNRNPR_ENST00000374612.1_In_Frame_Del_p.DYYG473del|HNRNPR_ENST00000374616.3_In_Frame_Del_p.DYYG476del NM_001102397.1|NM_001102399.1 NP_001095867.1|NP_001095869.1 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 473 RRM 3. catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding p.G476C(2) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) GATAATCATAACCATAGTAATCATCATAGTAA 0.505 43 79 --- --- --- --- PGBD2 267002 broad.mit.edu 37 1 249211273 249211274 + Frame_Shift_Del DEL TA TA - TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr1:249211273_249211274delTA ENST00000539153.1 + 4 736_737 c.481_482delTA c.(481-483)tfs p.Y161fs PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000329291.5_Frame_Shift_Del_p.Y164fs Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 164 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AACCAATCGTTATGCTTGGCAG 0.376 44 53 --- --- --- --- MFSD3 113655 broad.mit.edu 37 8 145735775 145735777 + In_Frame_Del DEL CTC CTC - TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr8:145735775_145735777delCTC ENST00000301327.4 + 2 975_977 c.715_717delCTC c.(715-717)del p.L241del NM_138431.1 NP_612440.1 Q96ES6 MFSD3_HUMAN major facilitator superfamily domain containing 3 241 Leu-rich. transmembrane transport integral to membrane central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GTTTCCTCTTCTCCTGCTGGACC 0.640 17 94 --- --- --- --- CD63 967 broad.mit.edu 37 12 56120745 56120746 + Frame_Shift_Ins INS - - AA TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:56120745_56120746insAA ENST00000549117.1 - 4 694_695 c.258_259insTT c.(256-261)ttccatfs p.H87fs CD63_ENST00000420846.3_Frame_Shift_Ins_p.H87fs|CD63_ENST00000257857.4_Frame_Shift_Ins_p.H87fs|CD63_ENST00000550776.1_Frame_Shift_Ins_p.H5fs|CD63_ENST00000548898.1_5'UTR|CD63_ENST00000548160.1_5'UTR|CD63_ENST00000552692.1_Frame_Shift_Ins_p.H87fs|CD63_ENST00000552754.1_Frame_Shift_Ins_p.H64fs|CD63_ENST00000546939.1_Frame_Shift_Ins_p.H5fs|CD63_ENST00000552067.1_5'UTR NM_001257389.1 NP_001244318.1 P08962 CD63_HUMAN CD63 molecule 87 platelet activation|platelet degranulation integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane kidney(1)|large_intestine(3)|lung(2)|ovary(1) 7 AGAAAGATGGCAAACTGCAGGA 0.515 40 79 --- --- --- --- SFSWAP 6433 broad.mit.edu 37 12 132281734 132281736 + In_Frame_Del DEL AGA AGA - TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr12:132281734_132281736delAGA ENST00000261674.4 + 16 2687_2689 c.2546_2548delAGA c.(2545-2550)gag>g p.EK849del SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del|SFSWAP_ENST00000539506.1_3'UTR NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 849 Arg/Ser-rich (RS domain). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AGTCCCCACGAGAAGAAGAAGAA 0.606 7 172 --- --- --- --- CSPG4 1464 broad.mit.edu 37 15 75980196 75980197 + Frame_Shift_Ins INS - - GCCAC TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr15:75980196_75980197insGCCAC ENST00000308508.5 - 3 3301_3302 c.3209_3210insGTGGC c.(3208-3210)ggtfs p.G1070fs NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1070 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GCTCATCTACGGCCACGATACT 0.619 11 76 --- --- --- --- GP1BA 2811 broad.mit.edu 37 17 4837358 4837359 + Frame_Shift_Del DEL CT CT - TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr17:4837358_4837359delCT ENST00000329125.5 + 2 1534_1535 c.1459_1460delCT c.(1459-1461)cfs p.L488fs NM_000173.5 NP_000164.5 E7ES66 E7ES66_HUMAN glycoprotein Ib (platelet), alpha polypeptide 488 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1) 20 ACCCGTATCACTCTTAGAATCC 0.500 22 25 --- --- --- --- CAMSAP3 57662 broad.mit.edu 37 19 7677563 7677563 + Frame_Shift_Del DEL G G - TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:7677563delG ENST00000446248.2 + 13 2366 c.2265delG c.(2263-2265)ctfs p.L755fs CAMSAP3_ENST00000160298.4_Frame_Shift_Del_p.L728fs NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 728 Pro-rich. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 AGCGGCTCCTGGCCCCGCCCG 0.721 2 4 --- --- --- --- NUMBL 9253 broad.mit.edu 37 19 41173866 41173868 + In_Frame_Del DEL TGC TGC - TCGA-D9-A4Z3-01A-11D-A25O-08 TCGA-D9-A4Z3-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F1AFC678-EFCB-45AD-85C3-25D40EEA7117 3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4 g.chr19:41173866_41173868delTGC ENST00000252891.4 - 10 1502_1504 c.1335_1337delGCA c.(1333-1338)caa>ca p.QQ445del NUMBL_ENST00000540131.1_In_Frame_Del_p.QQ404del|NUMBL_ENST00000598779.1_In_Frame_Del_p.QQ404del NM_004756.3 NP_004747.1 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 445 Poly-Gln. cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2) 16 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) TGAGgctgcttgctgctgttgct 0.670 2 4 --- --- --- ---