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 TRAV14DV4 28669 broad.mit.edu 37 14 22392815 22392815 + RNA SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr14:22392815C>T ENST00000390440.2 + 0 413 TATTTCTGTGCAATGAGAGAG 0.522000 34 40 0 0 0.080422 0 0 MUC17 140453 broad.mit.edu 37 7 100677648 100677648 + Missense_Mutation SNP C C A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr7:100677648C>A ENST00000306151.4 + 3 3015 c.2951C>A c.(2950-2952)cCa>cAa p.P984Q NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 984 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GGAACGACTCCATTAACAAGC 0.507000 92 160 1.01459e-35 1.28316e-35 0.139131 1 0 ABCA1 19 broad.mit.edu 37 9 107593339 107593339 + Missense_Mutation SNP G G A rs2853574 TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr9:107593339G>A ENST00000374736.3 - 14 2153 c.1759C>T c.(1759-1761)Cgg>Tgg p.R587W NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 587 R -> W (in HDLD1; dbSNP:rs2853574). Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CAGACGTACCGCATGTCCTCA 0.502000 4 94 0 0 0.009096 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994302 140994302 + Missense_Mutation SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chrX:140994302C>T ENST00000285879.4 + 4 1398 c.1112C>T c.(1111-1113)tCt>tTt p.S371F MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 371 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTTCCCCAGTCTCCTCTCCAG 0.478000 HNSCC(15;0.026) 22 72 0 0 0.062417 0 0 SCG3 29106 broad.mit.edu 37 15 51981445 51981445 + Silent SNP A A G TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr15:51981445A>G ENST00000220478.3 + 6 973 c.570A>G c.(568-570)gaA>gaG p.E190E SCG3_ENST00000542355.2_5'UTR NM_013243.3 NP_037375.2 Q8WXD2 SCG3_HUMAN secretogranin III 190 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) ATACACTGGAAGATGAAGTAG 0.368000 25 43 0 0 0.076483 0 0 ZNF292 23036 broad.mit.edu 37 6 87968193 87968193 + Missense_Mutation SNP A A G TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr6:87968193A>G ENST00000369577.3 + 8 4889 c.4846A>G c.(4846-4848)Aga>Gga p.R1616G ZNF292_ENST00000339907.4_Missense_Mutation_p.R1611G NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1616 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TCAGAACACAAGATCCAGTCA 0.393000 7 21 0 0 0.029380 0 0 FABP4 2167 broad.mit.edu 37 8 82392828 82392828 + Missense_Mutation SNP C C G TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr8:82392828C>G ENST00000256104.4 - 2 174 c.79G>C c.(79-81)Ggc>Cgc p.G27R FABP4_ENST00000518669.1_Intron|RP11-157I4.4_ENST00000524085.2_RNA NM_001442.2 NP_001433.1 P15090 FABP4_HUMAN fatty acid binding protein 4, adipocyte 27 triglyceride catabolic process cytoplasm|nucleus|soluble fraction fatty acid binding|protein binding|transporter activity p.G27S(1) breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1) 6 Epithelial(68;0.213) GTGGCAAAGCCCACTCCTACA 0.423000 3 54 0 0 0.115264 0 0 CSMD3 114788 broad.mit.edu 37 8 113933928 113933928 + Missense_Mutation SNP C C T rs140758499 TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr8:113933928C>T ENST00000297405.5 - 10 1805 c.1561G>A c.(1561-1563)Gca>Aca p.A521T CSMD3_ENST00000455883.2_Missense_Mutation_p.A417T|CSMD3_ENST00000343508.3_Missense_Mutation_p.A481T|CSMD3_ENST00000352409.3_Missense_Mutation_p.A521T NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 521 Sushi 2. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATGCTCTTTGCGCCCTGTAGG 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 33 53 0 0 0.064281 0 0 SACM1L 22908 broad.mit.edu 37 3 45776796 45776796 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr3:45776796G>A ENST00000389061.5 + 14 1374 c.1170G>A c.(1168-1170)atG>atA p.M390I SACM1L_ENST00000418611.1_Missense_Mutation_p.M287I|SACM1L_ENST00000541314.1_Missense_Mutation_p.M329I NM_014016.3 NP_054735.3 Q9NTJ5 SAC1_HUMAN SAC1 suppressor of actin mutations 1-like (yeast) 390 SAC. Golgi apparatus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) GCAATTGCATGGATTGTCTAG 0.408000 19 53 0 0 0.049695 0 0 TMEFF2 23671 broad.mit.edu 37 2 192922459 192922459 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr2:192922459G>A ENST00000392314.1 - 5 873 c.482C>T c.(481-483)aCc>aTc p.T161I TMEFF2_ENST00000272771.5_Missense_Mutation_p.T161I Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two follistatin-like domains 2 161 extracellular region|integral to membrane breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) AATATCACAGGTGGATGTCTC 0.378000 26 50 0 0 0.144211 0 0 CHRNA2 1135 broad.mit.edu 37 8 27327422 27327422 + Silent SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr8:27327422C>T ENST00000407991.1 - 3 758 c.150G>A c.(148-150)ccG>ccA p.P50P CHRNA2_ENST00000240132.2_Silent_p.P50P|CHRNA2_ENST00000520933.2_Silent_p.P50P NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 50 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) AGCCTCCCTGCGGCAATGCCG 0.637000 5 84 0 0 0.014758 0 0 RYR1 6261 broad.mit.edu 37 19 38979817 38979817 + Splice_Site SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr19:38979817G>A ENST00000355481.4 + 35 5679 c.5547_splice c.e35-1 p.V1850_splice RYR1_ENST00000360985.3_Splice_Site_p.V1850_splice|RYR1_ENST00000359596.3_Splice_Site_p.V1850_splice NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1850 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGTCCTGTAGGTGATGGGCAT 0.532000 11 9 0 0 0.105934 0 0 RPS6KB2 6199 broad.mit.edu 37 11 67200832 67200832 + Missense_Mutation SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr11:67200832C>T ENST00000312629.5 + 10 865 c.820C>T c.(820-822)Cgg>Tgg p.R274W AP003419.16_ENST00000535922.1_RNA NM_003952.2 NP_003943.2 Q9UBS0 KS6B2_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 2 274 Protein kinase. nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation nucleoplasm ATP binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2) 25 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) CGCAGAGAACCGGAAGAAAAC 0.632000 11 78 0 0 0.080935 0 0 MAPK11 5600 broad.mit.edu 37 22 50703752 50703752 + Missense_Mutation SNP T T C TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr22:50703752T>C ENST00000330651.6 - 11 1113 c.1013A>G c.(1012-1014)aAg>aGg p.K338R NM_002751.5 NP_002742.3 Q15759 MK11_HUMAN mitogen-activated protein kinase 11 338 activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding breast(1)|central_nervous_system(1)|lung(4) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ATGCTCACCCTTCCACTCCTC 0.637000 3 63 0 0 0.115264 0 0 ZNF880 400713 broad.mit.edu 37 19 52887785 52887785 + Missense_Mutation SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr19:52887785C>T ENST00000422689.2 + 4 967 c.952C>T c.(952-954)Cat>Tat p.H318Y NM_001145434.1 NP_001138906.1 Q6PDB4 ZN880_HUMAN zinc finger protein 880 318 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 TCAGAAAATTCATAGTGGAGA 0.413000 19 13 0 0 0.038395 0 0 DSP 1832 broad.mit.edu 37 6 7571657 7571657 + Silent SNP C C T rs139095230 TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr6:7571657C>T ENST00000379802.3 + 14 2084 c.1743C>T c.(1741-1743)gcC>gcT p.A581A DSP_ENST00000418664.2_Silent_p.A581A NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 581 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGACGATAGCCGACCTTGAGT 0.443000 6 237 0 0 0.038147 0 0 TRIM2 23321 broad.mit.edu 37 4 154249705 154249705 + Silent SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr4:154249705C>T ENST00000338700.5 + 11 2111 c.2046C>T c.(2044-2046)ttC>ttT p.F682F TRIM2_ENST00000437508.2_Silent_p.F655F NM_015271.3 NP_056086.2 Q9C040 TRIM2_HUMAN tripartite motif containing 2 655 cytoplasm zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1) 19 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) AAGGAGAATTCATGTTGAAGT 0.343000 15 30 0 0 0.038395 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540270 169540270 + Silent SNP C C G TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr3:169540270C>G ENST00000340806.6 + 1 561 c.561C>G c.(559-561)ctC>ctG p.L187L NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 187 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 TCTGTGTTCTCTACACCCTGG 0.488000 4 124 0 0 0.009096 0 0 GPC3 2719 broad.mit.edu 37 X 132826430 132826430 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chrX:132826430G>A ENST00000370818.3 - 5 1704 c.1259C>T c.(1258-1260)aCc>aTc p.T420I GPC3_ENST00000394299.2_Missense_Mutation_p.T443I|GPC3_ENST00000543339.1_Missense_Mutation_p.T366I NM_001164618.1|NM_004484.3 NP_001158090.1|NP_004475.1 P51654 GPC3_HUMAN glypican 3 420 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) CCAGCAAAGGGTGTCGTTTTC 0.388000 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 25 10 0 0 0.091800 0 0 ACTN2 88 broad.mit.edu 37 1 236924422 236924422 + Silent SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr1:236924422C>T ENST00000366578.4 + 20 2641 c.2475C>T c.(2473-2475)acC>acT p.T825T ACTN2_ENST00000546208.1_Silent_p.T319T|ACTN2_ENST00000542672.1_Silent_p.T825T NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 825 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CGGCTGACACCGACACTGCCG 0.537000 27 34 0 0 0.108266 0 0 TEC 7006 broad.mit.edu 37 4 48169913 48169913 + Missense_Mutation SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr4:48169913C>T ENST00000381501.3 - 7 710 c.553G>A c.(553-555)Gta>Ata p.V185I NM_003215.2 NP_003206.2 P42680 TEC_HUMAN tec protein tyrosine kinase 185 SH3. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 TACATGGCTACAACGATTTCT 0.393000 6 97 0 0 0.029380 0 0 POLR3D 661 broad.mit.edu 37 8 22107661 22107661 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr8:22107661G>A ENST00000397802.4 + 7 1210 c.995G>A c.(994-996)cGc>cAc p.R332H POLR3D_ENST00000306433.4_Missense_Mutation_p.R332H P05423 RPC4_HUMAN polymerase (RNA) III (DNA directed) polypeptide D, 44kDa 332 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 13 Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) CTACTCATCCGCAAGTCTGGA 0.562000 4 56 0 0 0.009096 0 0 CELSR3 1951 broad.mit.edu 37 3 48699612 48699612 + Missense_Mutation SNP A A T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr3:48699612A>T ENST00000544264.1 - 1 736 c.456T>A c.(454-456)agT>agA p.S152R CELSR3_ENST00000164024.4_Missense_Mutation_p.S152R Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 152 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CTGGTGACAGACTACCTCTTT 0.627000 45 85 0 0 0.124865 0 0 UTRN 7402 broad.mit.edu 37 6 145093097 145093097 + Silent SNP A A G TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr6:145093097A>G ENST00000367545.3 + 58 8550 c.8550A>G c.(8548-8550)caA>caG p.Q2850Q UTRN_ENST00000367526.4_Silent_p.Q405Q NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 2850 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AACTCTTTCAATCCCTTGGTA 0.269000 17 44 0 0 0.038395 0 0 CXorf22 170063 broad.mit.edu 37 X 35938046 35938046 + Missense_Mutation SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chrX:35938046C>T ENST00000297866.5 + 1 196 c.130C>T c.(130-132)Ccg>Tcg p.P44S NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 44 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 GCGGGTGATCCCGGCTGAGGT 0.562000 5 5 0 0 0.021553 0 0 IGFN1 91156 broad.mit.edu 37 1 201185880 201185880 + Splice_Site SNP G G A rs35601315 TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr1:201185880G>A ENST00000335211.4 + 16 9724 c.9595_splice c.e16+1 p.E3198_splice IGFN1_ENST00000295591.8_Splice_Site_p.E358_splice NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 p.E3198D(1)|p.E358D(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 TGGCTCCTGAGGGTGAGAGAA 0.647000 28 37 0 0 0.099896 0 0 PPP1R42 286187 broad.mit.edu 37 8 67929968 67929968 + Silent SNP G G T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr8:67929968G>T ENST00000522909.1 - 2 199 c.15C>A c.(13-15)acC>acA p.T5T PPP1R42_ENST00000517834.1_5'UTR|PPP1R42_ENST00000324682.5_Silent_p.T5T Q7Z4L9 LRC67_HUMAN protein phosphatase 1, regulatory subunit 42 5 TTAGATCCAAGGTCAGTCGAA 0.338000 14 56 0.000219431 0.000262099 0.119110 1 0 UAP1L1 91373 broad.mit.edu 37 9 139974547 139974547 + Silent SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr9:139974547C>T ENST00000409858.3 + 6 1163 c.1131C>T c.(1129-1131)aaC>aaT p.N377N UAP1L1_ENST00000360271.3_Silent_p.N254N NM_207309.2 NP_997192.2 Q3KQV9 UAP1L_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 377 nucleotidyltransferase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) TAAAACCGAACGGGATAAAGA 0.473000 51 59 0 0 0.139131 0 0 MUC16 94025 broad.mit.edu 37 19 9088749 9088749 + Silent SNP G G C TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr19:9088749G>C ENST00000397910.4 - 1 3269 c.3066C>G c.(3064-3066)ctC>ctG p.L1022L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1022 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 TCTCTGTTGTGAGGATGGTTG 0.473000 9 144 0 0 0.047766 0 0 AHDC1 27245 broad.mit.edu 37 1 27874105 27874105 + Missense_Mutation SNP G G C TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr1:27874105G>C ENST00000374011.2 - 6 5490 c.4522C>G c.(4522-4524)Cca>Gca p.P1508A AHDC1_ENST00000247087.5_Missense_Mutation_p.P1508A|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1508 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GTGGCTGGTGGGCTAGCCAGG 0.711000 3 8 0 0 0.009096 0 0 CUX2 23316 broad.mit.edu 37 12 111652070 111652070 + Missense_Mutation SNP C C A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr12:111652070C>A ENST00000261726.6 + 2 284 c.130C>A c.(130-132)Cat>Aat p.H44N NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 44 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 TTCTCATAAACATTTAATTGA 0.383000 4 101 0.00024832 0.000288588 0.009096 1 0 STIM2 57620 broad.mit.edu 37 4 27003875 27003875 + Missense_Mutation SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr4:27003875C>T ENST00000382009.3 + 6 1190 c.923C>T c.(922-924)aCa>aTa p.T308I STIM2_ENST00000465503.1_Missense_Mutation_p.T221I|STIM2_ENST00000467011.1_Missense_Mutation_p.T221I|STIM2_ENST00000412829.2_Missense_Mutation_p.T308I|STIM2_ENST00000467087.1_Missense_Mutation_p.T221I|STIM2_ENST00000237364.5_Missense_Mutation_p.T308I NM_001169118.1 NP_001162589.1 Q9P246 STIM2_HUMAN stromal interaction molecule 2 221 R -> G (in Ref. 4; AAH57231). activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 25 Breast(46;0.0503) TTTATCCTCACAGTTTCTATA 0.343000 3 37 0 0 0.115264 0 0 ZNF214 7761 broad.mit.edu 37 11 7022503 7022503 + Missense_Mutation SNP C C A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr11:7022503C>A ENST00000278314.4 - 3 726 c.411G>T c.(409-411)atG>atT p.M137I ZNF214_ENST00000536068.1_Missense_Mutation_p.M137I NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) ACTGCCAAGGCATAAAATTTT 0.393000 5 180 0.014758 0.0154779 0.014758 1 0 METTL13 51603 broad.mit.edu 37 1 171756952 171756952 + Missense_Mutation SNP C C A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr1:171756952C>A ENST00000361735.3 + 4 1457 c.1191C>A c.(1189-1191)gaC>gaA p.D397E METTL13_ENST00000367737.5_Missense_Mutation_p.D241E|METTL13_ENST00000458517.1_Missense_Mutation_p.D396E|METTL13_ENST00000362019.3_Missense_Mutation_p.D311E NM_015935.4 NP_057019.3 Q8N6R0 MTL13_HUMAN methyltransferase like 13 397 methyltransferase activity|protein binding breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 TGAGCGGTGACTATGTCATTG 0.552000 3 33 0.004672 0.00508597 0.115264 1 0 GPIHBP1 338328 broad.mit.edu 37 8 144295190 144295190 + Silent SNP G G T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr8:144295190G>T ENST00000330824.2 + 1 123 c.48G>T c.(46-48)cgG>cgT p.R16R NM_178172.3 NP_835466.1 Q8IV16 HDBP1_HUMAN glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 16 cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity lung(2) 2 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TGTGCGGGCGGCCAGGTGCGG 0.672000 3 23 0.00909568 0.00965714 0.009096 1 0 SMARCA5 8467 broad.mit.edu 37 4 144467996 144467996 + Missense_Mutation SNP A A G TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr4:144467996A>G ENST00000283131.3 + 20 3050 c.2588A>G c.(2587-2589)gAt>gGt p.D863G NM_003601.3 NP_003592.3 O60264 SMCA5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 863 SANT 1. CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) TGGGGTCGTGATGATATTGAA 0.338000 15 31 0 0 0.132662 0 0 TAF1 6872 broad.mit.edu 37 X 70613166 70613166 + Missense_Mutation SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chrX:70613166C>T ENST00000449580.1 + 21 3115 c.3064C>T c.(3064-3066)Cgc>Tgc p.R1022C TAF1_ENST00000423759.1_Missense_Mutation_p.R1043C|TAF1_ENST00000373790.4_Missense_Mutation_p.R1022C|TAF1_ENST00000276072.3_Missense_Mutation_p.R1043C P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 1022 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity p.R1022G(1) breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) AAAGTTGTCCCGCTGGGAAGT 0.443000 24 12 0 0 0.116897 0 0 CELSR3 1951 broad.mit.edu 37 3 48699613 48699613 + Missense_Mutation SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr3:48699613C>T ENST00000544264.1 - 1 735 c.455G>A c.(454-456)aGt>aAt p.S152N CELSR3_ENST00000164024.4_Missense_Mutation_p.S152N Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 152 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TGGTGACAGACTACCTCTTTG 0.632000 47 84 0 0 0.139131 0 0 OR4C11 219429 broad.mit.edu 37 11 55371281 55371281 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr11:55371281G>A ENST00000302231.4 - 1 593 c.569C>T c.(568-570)aCt>aTt p.T190I NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 GATCATGTAAGTGTCCATGCA 0.398000 60 46 0 0 0.139131 0 0 CILP2 148113 broad.mit.edu 37 19 19654666 19654666 + Missense_Mutation SNP T T G TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr19:19654666T>G ENST00000586018.1 + 8 1432 c.1330T>G c.(1330-1332)Tgc>Ggc p.C444G CILP2_ENST00000291495.4_Missense_Mutation_p.C438G Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 438 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CTCCCGCTGCTGCTCTGTGCG 0.682000 33 39 0 0 0.045705 0 0 AXDND1 126859 broad.mit.edu 37 1 179460728 179460728 + Missense_Mutation SNP T T G TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr1:179460728T>G ENST00000367618.3 + 19 2534 c.2147T>G c.(2146-2148)aTg>aGg p.M716R AXDND1_ENST00000457238.2_3'UTR NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 716 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 CTGATTTTAATGATACCCAAC 0.363000 29 57 0 0 0.134883 0 0 EXOC3L2 90332 broad.mit.edu 37 19 45716536 45716536 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr19:45716536G>A ENST00000413988.1 - 10 1061 c.1021C>T c.(1021-1023)Cgg>Tgg p.R341W EXOC3L2_ENST00000252482.3_Missense_Mutation_p.R341W|AC006126.3_ENST00000591569.1_Intron NM_138568.3 NP_612635.3 Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 341 p.R341W(1) endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) TCCAGGTCCCGGGCCACGGCC 0.657000 9 24 0 0 0.080935 0 0 PRKG1 5592 broad.mit.edu 37 10 53564372 53564372 + Missense_Mutation SNP T T A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr10:53564372T>A ENST00000373980.4 + 4 1037 c.620T>A c.(619-621)aTt>aAt p.I207N PRKG1_ENST00000373985.1_Missense_Mutation_p.I180N|PRKG1_ENST00000401604.2_Missense_Mutation_p.I192N NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 192 actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) CTCTGGGCCATTGATCGACAA 0.343000 12 36 0 0 0.105934 0 0 IP6K3 117283 broad.mit.edu 37 6 33690555 33690555 + Missense_Mutation SNP T T C TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr6:33690555T>C ENST00000451316.1 - 7 1710 c.1175A>G c.(1174-1176)tAt>tGt p.Y392C IP6K3_ENST00000293756.4_Missense_Mutation_p.Y392C NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 392 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 GCCAAAAATATAGCCAGGGTC 0.483000 29 82 0 0 0.144211 0 0 CES2 8824 broad.mit.edu 37 16 66974469 66974469 + Silent SNP G G A rs150055059 TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr16:66974469G>A ENST00000317091.4 + 5 1863 c.879G>A c.(877-879)gcG>gcA p.A293A CES2_ENST00000417689.1_Silent_p.A293A NM_003869.5 NP_003860.2 O00748 EST2_HUMAN carboxylesterase 2 229 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) GCGAGTCTGCGGGTGGCACGA 0.607000 35 70 0 0 0.098360 0 0 KIF3B 9371 broad.mit.edu 37 20 30897975 30897975 + Missense_Mutation SNP G G T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr20:30897975G>T ENST00000375712.3 + 2 562 c.395G>T c.(394-396)cGa>cTa p.R132L NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 132 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CACATCTCTCGATCCCAGAAT 0.463000 5 102 1.6384e-10 2.01289e-10 0.029380 1 0 ASAP2 8853 broad.mit.edu 37 2 9515038 9515038 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr2:9515038G>A ENST00000281419.3 + 17 2051 c.1711G>A c.(1711-1713)Gat>Aat p.D571N ASAP2_ENST00000315273.4_Missense_Mutation_p.D571N NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 571 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 TGATGGTGTGGATCTTACGGA 0.483000 23 39 0 0 0.076483 0 0 ELL 8178 broad.mit.edu 37 19 18555654 18555654 + Nonsense_Mutation SNP T T A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr19:18555654T>A ENST00000262809.4 - 12 1845 c.1774A>T c.(1774-1776)Aag>Tag p.K592* NM_006532.3 NP_006523.1 P55199 ELL_HUMAN elongation factor RNA polymerase II 592 positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction Cajal body|nuclear speck|transcription elongation factor complex protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1) 19 GBM - Glioblastoma multiforme(1328;7.81e-07) CAGCGGTGCTTCTCCTGGCTG 0.642000 T MLL AL 16 41 0 0 0.146539 0 0 LINC00969 440993 broad.mit.edu 37 3 195395399 195395399 + RNA SNP G G A rs62287990 by1000genomes TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr3:195395399G>A ENST00000445430.1 + 0 806 GGCTACGGGCGCACCTACTTG 0.607000 5 49 0 0 0.021553 0 0 GFRA1 2674 broad.mit.edu 37 10 117823944 117823944 + Silent SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr10:117823944G>A ENST00000439649.3 - 10 1715 c.1348C>T c.(1348-1350)Ctg>Ttg p.L450L GFRA1_ENST00000369236.1_Silent_p.L450L|GFRA1_ENST00000355422.6_Silent_p.L455L|GFRA1_ENST00000544592.1_Silent_p.L334L NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 455 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) AGGGTGGACAGAGCGGTTACC 0.428000 12 36 0 0 0.080935 0 0 PDGFRL 5157 broad.mit.edu 37 8 17478590 17478590 + Missense_Mutation SNP G G T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr8:17478590G>T ENST00000541323.1 + 4 829 c.384G>T c.(382-384)ttG>ttT p.L128F PDGFRL_ENST00000398074.3_Missense_Mutation_p.L128F|PDGFRL_ENST00000251630.6_Missense_Mutation_p.L128F NM_006207.2 NP_006198.1 Q15198 PGFRL_HUMAN platelet-derived growth factor receptor-like 128 Ig-like C2-type 1. extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 9 Colorectal(111;0.0752) ACGGCCAGTTGACTCTGGTCA 0.567000 13 35 1.05317e-09 1.27567e-09 0.119110 1 0 ZNF609 23060 broad.mit.edu 37 15 64967739 64967739 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr15:64967739G>A ENST00000326648.3 + 4 2814 c.2686G>A c.(2686-2688)Gag>Aag p.E896K NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 896 nucleus zinc ion binding p.E896Q(1) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCAAGGCTTTGAGAGTTACTA 0.507000 5 97 0 0 0.021553 0 0 ANKRD17 26057 broad.mit.edu 37 4 73963791 73963791 + Splice_Site SNP T T G TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr4:73963791T>G ENST00000358602.4 - 26 5136 c.5021_splice c.e26+1 p.K1674_splice ANKRD17_ENST00000330838.6_Splice_Site_p.K1423_splice|ANKRD17_ENST00000509867.2_Splice_Site_p.K1561_splice NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 1674 Ser-rich. interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GGAACTAACTTTATTGAAGCC 0.333000 28 50 0 0 0.045705 0 0 OR2A14 135941 broad.mit.edu 37 7 143826964 143826964 + Silent SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr7:143826964C>T ENST00000408899.2 + 1 814 c.759C>T c.(757-759)agC>agT p.S253S NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) TCTTTGGCAGCGCCATTGTCA 0.577000 4 136 0 0 0.009096 0 0 SYBU 55638 broad.mit.edu 37 8 110587412 110587412 + Missense_Mutation SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr8:110587412C>T ENST00000399066.3 - 6 2433 c.1706G>A c.(1705-1707)cGc>cAc p.R569H SYBU_ENST00000528331.1_Missense_Mutation_p.R453H|SYBU_ENST00000422135.1_Missense_Mutation_p.R572H|SYBU_ENST00000533895.1_Missense_Mutation_p.R571H|SYBU_ENST00000529175.1_Missense_Mutation_p.R366H|SYBU_ENST00000424158.2_Missense_Mutation_p.R577H|SYBU_ENST00000408908.2_Missense_Mutation_p.R572H|SYBU_ENST00000533171.1_Missense_Mutation_p.R572H|SYBU_ENST00000446070.2_Missense_Mutation_p.R571H|SYBU_ENST00000276646.9_Missense_Mutation_p.R572H|SYBU_ENST00000529690.1_Missense_Mutation_p.R442H|SYBU_ENST00000532779.1_Missense_Mutation_p.R504H|SYBU_ENST00000408889.3_Missense_Mutation_p.R453H|SYBU_ENST00000440310.1_Missense_Mutation_p.R572H|SYBU_ENST00000533065.1_Missense_Mutation_p.R453H|SYBU_ENST00000528647.1_Missense_Mutation_p.R571H|SYBU_ENST00000419099.1_Missense_Mutation_p.R571H|SYBU_ENST00000433638.1_Missense_Mutation_p.R572H NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 572 cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 TCTCATGAGGCGGTTTGCATG 0.542000 19 37 0 0 0.049695 0 0 GNRHR 2798 broad.mit.edu 37 4 68610290 68610290 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr4:68610290G>A ENST00000420975.2 - 2 609 c.610C>T c.(610-612)Cca>Tca p.P204S GNRHR_ENST00000226413.4_Silent_p.P246P|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000502758.1_RNA NM_001012763.1 NP_001012781.1 P30968 GNRHR_HUMAN gonadotropin-releasing hormone receptor 0 multicellular organismal development integral to plasma membrane gonadotropin-releasing hormone receptor activity endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 13 Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666) ACATACCGTGGGGGTCCTGAT 0.428000 20 26 0 0 0.049695 0 0 ARID1B 57492 broad.mit.edu 37 6 157502235 157502235 + Missense_Mutation SNP C C G TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr6:157502235C>G ENST00000346085.5 + 12 3269 c.3268C>G c.(3268-3270)Ctg>Gtg p.L1090V ARID1B_ENST00000350026.5_Missense_Mutation_p.L1077V|ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000367148.1_Missense_Mutation_p.L1130V|ARID1B_ENST00000275248.4_Missense_Mutation_p.L1072V NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1077 ARID. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TGTCTCAAGTCTGCCTGCCGT 0.577000 7 21 0 0 0.029380 0 0 TRAPPC8 22878 broad.mit.edu 37 18 29432467 29432467 + Splice_Site SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr18:29432467G>A ENST00000283351.4 - 24 3838 c.3502_splice c.e24-1 p.A1168_splice TRAPPC8_ENST00000582539.1_Splice_Site_p.A1114_splice NM_014939.3 NP_055754.2 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 1168 ER to Golgi vesicle-mediated transport cis-Golgi network p.A1168V(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CTGTGTGGCCGCTAAAAAACA 0.318000 4 186 0 0 0.009096 0 0 CDH11 1009 broad.mit.edu 37 16 64984710 64984710 + Silent SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr16:64984710G>A ENST00000394156.3 - 12 2307 c.1854C>T c.(1852-1854)ggC>ggT p.G618G CDH11_ENST00000566827.1_Silent_p.G492G|CDH11_ENST00000268603.4_Silent_p.G618G P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 618 adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CGATCAGGGCGCCTGTGCTCA 0.632000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 9 27 0 0 0.058154 0 0 ZNF608 57507 broad.mit.edu 37 5 123977043 123977043 + Missense_Mutation SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr5:123977043C>T ENST00000306315.5 - 7 4787 c.4352G>A c.(4351-4353)cGc>cAc p.R1451H ZNF608_ENST00000504926.1_Missense_Mutation_p.R1024H|ZNF608_ENST00000513985.1_5'UTR NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1451 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GGGGGAGTGGCGATCCCTTTC 0.557000 4 76 0 0 0.009096 0 0 ZNF658 26149 broad.mit.edu 37 9 40774007 40774007 + Nonsense_Mutation SNP G G T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr9:40774007G>T ENST00000602553.1 - 5 1562 c.1268C>A c.(1267-1269)tCa>tAa p.S423* ZNF658_ENST00000377626.3_Nonsense_Mutation_p.S423*|ZNF658_ENST00000441795.1_Nonsense_Mutation_p.S421* Q5TYW1 ZN658_HUMAN zinc finger protein 658 423 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) ATGTGAACTTGAACAAAAGGA 0.398000 6 181 0.00116845 0.00132219 0.021553 1 0 APOA1BP 128240 broad.mit.edu 37 1 156563322 156563322 + Missense_Mutation SNP C C T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr1:156563322C>T ENST00000368234.3 + 5 626 c.583C>T c.(583-585)Cat>Tat p.H195Y APOA1BP_ENST00000368233.3_Silent_p.P213P|APOA1BP_ENST00000368235.3_Silent_p.P213P Q8NCW5 AIBP_HUMAN apolipoprotein A-I binding protein 0 YjeF N-terminal. extracellular region protein binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCACTGTGCCCATTGCCAGCA 0.577000 5 46 0 0 0.014758 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140788902 140788902 + Missense_Mutation SNP G G C TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr5:140788902G>C ENST00000520790.1 + 1 1133 c.1133G>C c.(1132-1134)gGa>gCa p.G378A PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATTTCGGAGGAAATGGAGAA 0.413000 19 21 0 0 0.055883 0 0 ZNF835 90485 broad.mit.edu 37 19 57176313 57176313 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr19:57176313G>A ENST00000537055.2 - 2 485 c.254C>T c.(253-255)gCg>gTg p.A85V NM_001005850.2 NP_001005850.2 zinc finger protein 835 p.A107V(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 CTCCCCAGGCGCGCTGCACCT 0.647000 10 17 0 0 0.146539 0 0 GCDH 2639 broad.mit.edu 37 19 13004312 13004312 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr19:13004312G>A ENST00000222214.5 + 6 561 c.350G>A c.(349-351)gGg>gAg p.G117E GCDH_ENST00000591470.1_Missense_Mutation_p.G117E|GCDH_ENST00000422947.2_Missense_Mutation_p.G73E|GCDH_ENST00000457854.1_Missense_Mutation_p.G117E Q92947 GCDH_HUMAN glutaryl-CoA dehydrogenase 117 lysine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8) 19 GGCTGTGCTGGGGTTTCGTCT 0.597000 25 27 0 0 0.108266 0 0 FRK 2444 broad.mit.edu 37 6 116288718 116288718 + Silent SNP T T C TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr6:116288718T>C ENST00000606080.1 - 4 1241 c.795A>G c.(793-795)aaA>aaG p.K265K FRK_ENST00000538210.1_Silent_p.K123K NM_002031.2 NP_002022.1 P42685 FRK_HUMAN fyn-related kinase 265 Protein kinase. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) TCGCACCTGGTTTTAATGTTT 0.403000 9 126 0 0 0.058154 0 0 NMUR2 56923 broad.mit.edu 37 5 151784417 151784417 + Missense_Mutation SNP G G T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr5:151784417G>T ENST00000255262.3 - 1 423 c.258C>A c.(256-258)agC>agA p.S86R NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 86 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) AGACCGCCAGGCTGAAGAGGT 0.572000 30 68 1.99505e-19 2.48659e-19 0.050027 1 0 KIAA1009 22832 broad.mit.edu 37 6 84862866 84862866 + Missense_Mutation SNP C C A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr6:84862866C>A ENST00000403245.3 - 23 3141 c.3027G>T c.(3025-3027)gaG>gaT p.E1009D KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.E933D NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 1009 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) CAAGTAGCTGCTCCTGCTGCT 0.428000 5 14 0.00116845 0.00132219 0.021553 1 0 LRIF1 55791 broad.mit.edu 37 1 111490996 111490996 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr1:111490996G>A ENST00000369763.4 - 4 2285 c.1895C>T c.(1894-1896)gCa>gTa p.A632V LRIF1_ENST00000494675.1_Missense_Mutation_p.A96V|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Missense_Mutation_p.A96V NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 632 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 ATTAGTTTTTGCTTTTCTTTT 0.343000 11 22 0 0 0.069234 0 0 ATXN1 6310 broad.mit.edu 37 6 16327903 16327904 + In_Frame_Ins INS - - TGA rs3817753 TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr6:16327903_16327904insTGA ENST00000244769.4 - 8 1574_1575 c.638_639insTCA c.(637-639)cca>cTCAca p.213_213P>LT ATXN1_ENST00000436367.1_In_Frame_Ins_p.213_213P>LT NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 213 Poly-Gln. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) gctgctgctgctgctgatgctg 0.668 4 2 --- --- --- --- TDRD7 23424 broad.mit.edu 37 9 100222899 100222899 + Frame_Shift_Del DEL A A - TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr9:100222899delA ENST00000355295.4 + 7 1590 c.1295delA c.(1294-1296)cafs p.Q432fs TDRD7_ENST00000422139.2_Frame_Shift_Del_p.Q358fs NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 432 Lotus/OST-HTH 3. lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) ATGGTTGAACAAGAGTATTTG 0.408 27 91 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651199 1651228 + In_Frame_Del DEL AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC - rs35089393 by1000genomes TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC ENST00000399676.2 + 1 167_196 c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC c.(127-159)ggg>gg p.GGCGGCGSGCA43del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 43 G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg 0.691 47 10 --- --- --- --- OVOS2 144203 broad.mit.edu 37 12 31269189 31269190 + RNA INS - - ATCAT rs35880498 TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr12:31269189_31269190insATCAT ENST00000542490.1 - 0 165 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CATGAGAACTCATTACCATGAT 0.351 4 9 --- --- --- --- UNC79 57578 broad.mit.edu 37 14 94046720 94046721 + Splice_Site DEL GT GT - TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr14:94046720_94046721delGT ENST00000553484.1 + 19 2813_2814 c.2661_splice c.e19+1 p.V887_splice UNC79_ENST00000555664.1_Splice_Site_p.V887_splice|UNC79_ENST00000256339.4_Splice_Site_p.V710_splice|UNC79_ENST00000393151.2_Splice_Site_p.V887_splice Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 887 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 AAGCCGGCTGGTGGTAAGCAGT 0.441 13 34 --- --- --- --- OR4N4 283694 broad.mit.edu 37 15 22382920 22382921 + Frame_Shift_Ins INS - - T TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr15:22382920_22382921insT ENST00000328795.4 + 1 539_540 c.448_449insT c.(448-450)tggfs p.W150fs RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GGCTCTGTGGCTTGGGGGTTTT 0.535 20 113 --- --- --- --- ZNF646 9726 broad.mit.edu 37 16 31092942 31092943 + Frame_Shift_Ins INS - - C TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr16:31092942_31092943insC ENST00000394979.2 + 1 5720_5721 c.5297_5298insC c.(5296-5298)tccfs p.S1766fs ZNF646_ENST00000300850.5_Frame_Shift_Ins_p.S1766fs O15015 ZN646_HUMAN zinc finger protein 646 1766 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 TGCCCCCATTGTCCCCGCCACT 0.693 7 64 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45247389 45247389 + Frame_Shift_Del DEL T T - TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr17:45247389delT ENST00000066544.3 - 4 364 c.271delA c.(271-273)tcfs p.I91fs CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 91 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding p.I91fs*54(1) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 CCAGATAAGATTTGTTCCCCT 0.323 7 113 --- --- --- --- KCNH6 81033 broad.mit.edu 37 17 61601637 61601645 + In_Frame_Del DEL CCCAACACA CCCAACACA - rs143633824 TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr17:61601637_61601645delCCCAACACA ENST00000583023.1 + 2 225_233 c.214_222delCCCAACACA c.(214-222)del p.PNT72del KCNH6_ENST00000456941.2_In_Frame_Del_p.PNT72del|KCNH6_ENST00000314672.5_In_Frame_Del_p.PNT72del|KCNH6_ENST00000581784.1_In_Frame_Del_p.PNT72del|KCNH6_ENST00000580652.1_In_Frame_Del_p.PNT72del NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 72 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) CCTCACAGGCCCCAACACACCAAGCAGCG 0.612 24 83 --- --- --- --- CILP2 148113 broad.mit.edu 37 19 19654650 19654659 + Frame_Shift_Del DEL CGCCAGCTCC CGCCAGCTCC - TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr19:19654650_19654659delCGCCAGCTCC ENST00000586018.1 + 8 1416_1425 c.1314_1323delCGCCAGCTCC c.(1312-1323)gafs p.DASS438fs CILP2_ENST00000291495.4_Frame_Shift_Del_p.DASS432fs Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 432 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity p.A433D(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 GCTGCGGGGACGCCAGCTCCCGCTGCTGCT 0.671 32 59 --- --- --- --- FCGBP 8857 broad.mit.edu 37 19 40384082 40384089 + Frame_Shift_Del DEL CGTCGTAA CGTCGTAA - rs143028655 byFrequency TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16b220fa-a554-43c9-85b0-315331e5ba6e 90358019-128e-4a51-95de-13920ef19ab2 g.chr19:40384082_40384089delCGTCGTAA ENST00000221347.6 - 21 9528_9535 c.9521_9528delTTACGACG c.(9520-9528)cfs p.LTT3174fs NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 3174 TIL 7. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ATACGGCTGGCGTCGTAAGGGGTGCAGG 0.635 9 134 --- --- --- ---