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 HNRNPCL1 343069 broad.mit.edu 37 1 12907854 12907854 + Missense_Mutation SNP C C T TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr1:12907854C>T ENST00000317869.6 - 2 514 c.289G>A c.(289-291)Gtg>Atg p.V97M NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 GATCGTTTCACACCTGCGTTT 0.498 13 127 --- --- --- --- SDHC 6391 broad.mit.edu 37 1 161326632 161326632 + Splice_Site SNP T T C TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr1:161326632T>C ENST00000367975.2 + 5 554 c.e5+2 SDHC_ENST00000513009.1_Intron|SDHC_ENST00000432287.2_Splice_Site|SDHC_ENST00000392169.2_Splice_Site|SDHC_ENST00000470743.3_Splice_Site|SDHC_ENST00000342751.4_Intron NM_003001.3 NP_002992.1 Q99643 C560_HUMAN succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa respiratory electron transport chain|transport|tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex electron carrier activity|heme binding|succinate dehydrogenase activity urinary_tract(1) 1 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) Succinic acid(DB00139) CGACACTTGGTAAGTTAATTC 0.458 """Mis, N, F""" """paraganglioma, pheochromocytoma""" Familial Paragangliomas;Carney-Stratakis syndrome 26 77 --- --- --- --- PTPRC 5788 broad.mit.edu 37 1 198711451 198711451 + Silent SNP T T C TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr1:198711451T>C ENST00000367376.2 + 25 2817 c.2646T>C c.(2644-2646)taT>taC p.Y882Y PTPRC_ENST00000352140.3_Silent_p.Y834Y|PTPRC_ENST00000442510.2_Silent_p.Y884Y|PTPRC_ENST00000594404.1_Silent_p.Y721Y|PTPRC_ENST00000348564.6_Silent_p.Y723Y NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 882 Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TTTATGGTTATGTTGTCAAGC 0.438 17 91 --- --- --- --- USH2A 7399 broad.mit.edu 37 1 216256915 216256915 + Silent SNP A A T TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr1:216256915A>T ENST00000366943.2 - 26 5567 c.5181T>A c.(5179-5181)ctT>ctA p.L1727L RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Silent_p.L1727L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1727 Laminin G-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TATATGGATGAAGTTCCAGGA 0.338 HNSCC(13;0.011) 22 113 --- --- --- --- ACTA1 58 broad.mit.edu 37 1 229568583 229568583 + Silent SNP G G A TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr1:229568583G>A ENST00000366684.3 - 3 276 c.174C>T c.(172-174)gaC>gaT p.D58D ACTA1_ENST00000366683.2_Silent_p.D58D NM_001100.3 NP_001091.1 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 58 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) TCTGAGCCTCGTCGCCCACGT 0.592 11 65 --- --- --- --- MFSD2B 388931 broad.mit.edu 37 2 24239744 24239744 + Missense_Mutation SNP T T C TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr2:24239744T>C ENST00000338315.4 + 4 377 c.377T>C c.(376-378)cTg>cCg p.L126P MFSD2B_ENST00000406420.3_Missense_Mutation_p.L126P A6NFX1 MFS2B_HUMAN major facilitator superfamily domain containing 2B 126 transport integral to membrane cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 10 TTCATCGCCCTGGCCTACTTC 0.662 11 27 --- --- --- --- DPP10 57628 broad.mit.edu 37 2 116534830 116534830 + Missense_Mutation SNP G G T TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr2:116534830G>T ENST00000410059.1 + 14 1748 c.1268G>T c.(1267-1269)tGg>tTg p.W423L DPP10_ENST00000310323.8_Missense_Mutation_p.W416L|DPP10_ENST00000409163.1_Missense_Mutation_p.W373L|DPP10_ENST00000393147.2_Missense_Mutation_p.W427L NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 423 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 TCAGGAAACTGGGAAGTGATA 0.383 4 24 --- --- --- --- EOMES 8320 broad.mit.edu 37 3 27760935 27760935 + Silent SNP A A T TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr3:27760935A>T ENST00000295743.4 - 3 1277 c.1074T>A c.(1072-1074)acT>acA p.T358T EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000449599.1_Silent_p.T358T|EOMES_ENST00000537516.1_Silent_p.T63T O95936 EOMES_HUMAN eomesodermin 358 CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 AGTGGGAACCAGTATTAGGAG 0.403 22 75 --- --- --- --- TRANK1 9881 broad.mit.edu 37 3 36872850 36872850 + Missense_Mutation SNP T T A TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr3:36872850T>A ENST00000429976.2 - 21 8339 c.8092A>T c.(8092-8094)Acc>Tcc p.T2698S TRANK1_ENST00000428977.2_Missense_Mutation_p.T2148S|TRANK1_ENST00000301807.6_Missense_Mutation_p.T2148S NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2698 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 TCCATCTGGGTGCCCACTCTT 0.572 5 18 --- --- --- --- ITIH4 3700 broad.mit.edu 37 3 52858573 52858573 + Missense_Mutation SNP T T G TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr3:52858573T>G ENST00000266041.4 - 8 981 c.885A>C c.(883-885)gaA>gaC p.E295D ITIH4_ENST00000485816.1_Missense_Mutation_p.E295D|ITIH4_ENST00000346281.5_Missense_Mutation_p.E295D|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000434759.3_Missense_Mutation_p.E207D|ITIH4_ENST00000406595.1_Missense_Mutation_p.E295D NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 295 VWFA. acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) TGATTAGGGCTTCCCGGGTCT 0.577 8 27 --- --- --- --- EPHB1 2047 broad.mit.edu 37 3 134920475 134920475 + Missense_Mutation SNP G G T TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr3:134920475G>T ENST00000398015.3 + 12 2660 c.2290G>T c.(2290-2292)Ggc>Tgc p.G764C EPHB1_ENST00000493838.1_Missense_Mutation_p.G325C NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 764 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GTCCGACTTTGGCCTCTCCCG 0.522 15 45 --- --- --- --- ATP13A5 344905 broad.mit.edu 37 3 193082032 193082032 + Missense_Mutation SNP G G A TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr3:193082032G>A ENST00000342358.4 - 2 218 c.101C>T c.(100-102)gCc>gTc p.A34V NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 34 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) AAGGCAGAAGGCTTTCCGTAC 0.483 35 61 --- --- --- --- ATP10D 57205 broad.mit.edu 37 4 47538814 47538814 + Missense_Mutation SNP C C A TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr4:47538814C>A ENST00000273859.3 + 9 1524 c.1255C>A c.(1255-1257)Cag>Aag p.Q419K ATP10D_ENST00000504445.1_Missense_Mutation_p.Q404K NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 419 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 TTCTATTGTTCAGTGCCGAGC 0.393 8 33 --- --- --- --- USP53 54532 broad.mit.edu 37 4 120214179 120214179 + Missense_Mutation SNP G G T TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr4:120214179G>T ENST00000450251.1 + 15 3579 c.3035G>T c.(3034-3036)gGt>gTt p.G1012V USP53_ENST00000274030.6_Missense_Mutation_p.G1012V Q70EK8 UBP53_HUMAN ubiquitin specific peptidase 53 1012 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 GCAAACTCAGGTGCCATTGAT 0.393 33 74 --- --- --- --- NIM1K 167359 broad.mit.edu 37 5 43280301 43280301 + Silent SNP T T C TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr5:43280301T>C ENST00000512796.1 + 4 2280 c.781T>C c.(781-783)Ttg>Ctg p.L261L NIM1_ENST00000326035.2_Silent_p.L261L Q8IY84 NIM1_HUMAN 261 Protein kinase. ATP binding|magnesium ion binding|protein serine/threonine kinase activity GGGGGTGCTTTTGTACTTCAT 0.547 3 49 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79965959 79965959 + Missense_Mutation SNP C C T TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr5:79965959C>T ENST00000265081.6 + 4 703 c.623C>T c.(622-624)aCa>aTa p.T208I NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 208 Interaction with EXO1. maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) TCATCAAATACAAGTCATGAA 0.338 Mismatch excision repair (MMR) 3 38 --- --- --- --- SNCAIP 9627 broad.mit.edu 37 5 121786541 121786541 + Missense_Mutation SNP C C A TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr5:121786541C>A ENST00000261367.7 + 12 3568 c.2140C>A c.(2140-2142)Ctg>Atg p.L714M SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.L667M|SNCAIP_ENST00000542191.1_Missense_Mutation_p.L225M|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.L269M|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.L607M|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L714M|SNCAIP_ENST00000379538.3_Missense_Mutation_p.L301M Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 667 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GTTAGCCAGGCTGAGACAGCT 0.512 9 20 --- --- --- --- PCDHGB6 56100 broad.mit.edu 37 5 140788913 140788913 + Missense_Mutation SNP G G A TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr5:140788913G>A ENST00000520790.1 + 1 1144 c.1144G>A c.(1144-1146)Gtc>Atc p.V382I PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_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) AAATGGAGAAGTCAGGTGTAA 0.433 10 19 --- --- --- --- ADAM19 8728 broad.mit.edu 37 5 156915452 156915452 + Missense_Mutation SNP G G A TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr5:156915452G>A ENST00000257527.4 - 21 2449 c.2371C>T c.(2371-2373)Ccc>Tcc p.P791S ADAM19_ENST00000430702.2_Missense_Mutation_p.P524S|ADAM19_ENST00000517905.1_Missense_Mutation_p.P791S|ADAM19_ENST00000394020.1_Missense_Mutation_p.P793S NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 791 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGGGGCCGGGGAGGAGGCTGG 0.617 14 38 --- --- --- --- BTNL3 10917 broad.mit.edu 37 5 180432567 180432567 + Missense_Mutation SNP A A G TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr5:180432567A>G ENST00000342868.6 + 8 1280 c.1096A>G c.(1096-1098)Aag>Gag p.K366E NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 366 B30.2/SPRY. lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) AGACAGGGGGAAGAACAATGT 0.478 3 57 --- --- --- --- LRRC16A 55604 broad.mit.edu 37 6 25551235 25551235 + Missense_Mutation SNP A A G TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr6:25551235A>G ENST00000329474.6 + 27 2794 c.2426A>G c.(2425-2427)gAa>gGa p.E809G NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 809 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 GCCAGCACCGAAAAGATTTCT 0.388 15 84 --- --- --- --- DDX39B 7919 broad.mit.edu 37 6 31499163 31499163 + Missense_Mutation SNP G G C TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr6:31499163G>C ENST00000417556.2 - 9 1562 c.932C>G c.(931-933)tCt>tGt p.S311C ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000458640.1_Missense_Mutation_p.S296C|DDX39B_ENST00000396172.1_Missense_Mutation_p.S296C|DDX39B_ENST00000415382.2_Missense_Mutation_p.S218C|DDX39B_ENST00000376177.2_Missense_Mutation_p.S296C Q13838 DX39B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 296 Helicase C-terminal. intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 CCGCTGCACAGACTTCACAAA 0.587 6 25 --- --- --- --- B3GALT4 8705 broad.mit.edu 37 6 33245707 33245707 + Missense_Mutation SNP G G A TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr6:33245707G>A ENST00000451237.1 + 1 791 c.511G>A c.(511-513)Gtc>Atc p.V171I NM_003782.3 NP_003773.1 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 171 protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 13 GGCCCGATACGTCCTCAAGAC 0.587 4 68 --- --- --- --- PEX6 5190 broad.mit.edu 37 6 42936629 42936629 + Missense_Mutation SNP C C T TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr6:42936629C>T ENST00000304611.8 - 6 1531 c.1462G>A c.(1462-1464)Ggg>Agg p.G488R PEX6_ENST00000244546.4_Missense_Mutation_p.G488R NM_000287.3 NP_000278.3 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 488 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3) 15 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) AAGTGGAGCCCAAGGTGACTA 0.597 10 55 --- --- --- --- COL21A1 81578 broad.mit.edu 37 6 56035506 56035506 + Missense_Mutation SNP T T A TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr6:56035506T>A ENST00000244728.5 - 5 1364 c.967A>T c.(967-969)Aca>Tca p.T323S COL21A1_ENST00000535941.1_Missense_Mutation_p.T323S|COL21A1_ENST00000370819.1_Missense_Mutation_p.T323S NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 323 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CTGGTTGTTGTAAATAATAAG 0.343 3 13 --- --- --- --- NOD1 10392 broad.mit.edu 37 7 30491972 30491972 + Missense_Mutation SNP G G A TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr7:30491972G>A ENST00000222823.4 - 6 1586 c.1061C>T c.(1060-1062)cCc>cTc p.P354L NOD1_ENST00000423334.2_3'UTR NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 354 NACHT. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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 basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 CAGGTGGCTGGGGGAGAAGCC 0.677 8 27 --- --- --- --- POU6F2 11281 broad.mit.edu 37 7 39500237 39500237 + Silent SNP T T A TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr7:39500237T>A ENST00000518318.2 + 9 1536 c.1494T>A c.(1492-1494)ctT>ctA p.L498L POU6F2_ENST00000559001.1_Silent_p.L443L|POU6F2_ENST00000403058.1_Silent_p.L498L P78424 PO6F2_HUMAN POU class 6 homeobox 2 498 POU-specific. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 GCCTGTCCCTTGGCCTGACCC 0.592 4 6 --- --- --- --- TAF6 6878 broad.mit.edu 37 7 99704994 99704994 + Missense_Mutation SNP G G T TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr7:99704994G>T ENST00000344095.4 - 15 2434 c.1909C>A c.(1909-1911)Cca>Aca p.P637T TAF6_ENST00000437822.2_Missense_Mutation_p.P674T|TAF6_ENST00000453269.2_Missense_Mutation_p.P637T|TAF6_ENST00000452041.1_Missense_Mutation_p.P637T|TAF6_ENST00000418432.2_Missense_Mutation_p.P561T|TAF6_ENST00000472509.1_Missense_Mutation_p.P694T|AP4M1_ENST00000421755.1_Intron NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 637 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|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 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCGCTGAGTGGGGACGGGGAC 0.647 24 50 --- --- --- --- LMOD2 442721 broad.mit.edu 37 7 123296111 123296111 + Missense_Mutation SNP G G C TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr7:123296111G>C ENST00000458573.2 + 1 251 c.94G>C c.(94-96)Gag>Cag p.E32Q LMOD2_ENST00000456238.2_Missense_Mutation_p.E32Q NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 32 Glu-rich.|Tropomyosin-binding (By similarity). cytoskeleton actin binding|tropomyosin binding GGAGCTGAAGGAGCTAGAGAG 0.537 9 6 --- --- --- --- CDK5 1020 broad.mit.edu 37 7 150754243 150754243 + Silent SNP G G C TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr7:150754243G>C ENST00000485972.1 - 2 723 c.42C>G c.(40-42)acC>acG p.T14T CDK5_ENST00000297518.4_Silent_p.T14T NM_004935.3 NP_004926.1 Q00535 CDK5_HUMAN cyclin-dependent kinase 5 14 Protein kinase. activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1) 9 Breast(660;0.159)|Ovarian(593;0.182) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242) CAGTTCCGTAGGTGCCTAGGG 0.567 33 69 --- --- --- --- FREM1 158326 broad.mit.edu 37 9 14846021 14846021 + Missense_Mutation SNP C C T TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr9:14846021C>T ENST00000380881.4 - 9 2148 c.1333G>A c.(1333-1335)Gac>Aac p.D445N FREM1_ENST00000422223.2_Missense_Mutation_p.D444N|FREM1_ENST00000380880.3_Missense_Mutation_p.D444N Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 444 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding p.D445N(1) breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GCACCAATGTCGTCATTGTCG 0.493 8 10 --- --- --- --- NTNG2 84628 broad.mit.edu 37 9 135073943 135073943 + Silent SNP G G T rs138616053 by1000genomes TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr9:135073943G>T ENST00000393229.3 + 3 1580 c.804G>T c.(802-804)cgG>cgT p.R268R NTNG2_ENST00000393228.4_Silent_p.R268R|NTNG2_ENST00000360670.3_Silent_p.R268R|NTNG2_ENST00000372179.3_Silent_p.R268R NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 268 Laminin N-terminal. axonogenesis anchored to plasma membrane central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) ATGTGCAGCGGGAGAACCTCT 0.637 15 27 --- --- --- --- ANKRD26 22852 broad.mit.edu 37 10 27323868 27323868 + Missense_Mutation SNP A A C TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr10:27323868A>C ENST00000376087.4 - 24 3676 c.3511T>G c.(3511-3513)Ttt>Gtt p.F1171V ANKRD26_ENST00000376070.3_Missense_Mutation_p.F728V|ANKRD26_ENST00000436985.2_Missense_Mutation_p.F1187V NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1170 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 ATAGCATGAAACTGGTCTTGG 0.363 38 87 --- --- --- --- PI4K2A 55361 broad.mit.edu 37 10 99426205 99426205 + Nonsense_Mutation SNP C C G TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr10:99426205C>G ENST00000370631.3 + 7 1152 c.1095C>G c.(1093-1095)taC>taG p.Y365* PI4K2A_ENST00000555577.1_Nonsense_Mutation_p.Y335*|PI4K2A_ENST00000370649.3_Nonsense_Mutation_p.Y335* NM_018425.2 NP_060895.1 Q9BTU6 P4K2A_HUMAN phosphatidylinositol 4-kinase type 2 alpha 365 PI3K/PI4K. phosphatidylinositol biosynthetic process cytoplasm|integral to plasma membrane|membrane raft 1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 Colorectal(252;0.162) Epithelial(162;1.24e-10)|all cancers(201;1.2e-08) ATCCTTTTTACTGGGCCTGGT 0.473 16 36 --- --- --- --- OR5D13 390142 broad.mit.edu 37 11 55541529 55541529 + Missense_Mutation SNP A A G TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr11:55541529A>G ENST00000361760.1 + 1 616 c.616A>G c.(616-618)Ata>Gta p.I206V NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 206 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) TATTATTGCCATATTCAATGA 0.388 24 66 --- --- --- --- PPP6R3 55291 broad.mit.edu 37 11 68359047 68359047 + Missense_Mutation SNP A A G TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr11:68359047A>G ENST00000393799.2 + 18 2056 c.1789A>G c.(1789-1791)Aat>Gat p.N597D PPP6R3_ENST00000393800.2_Missense_Mutation_p.N597D|PPP6R3_ENST00000534534.1_Missense_Mutation_p.N365D|PPP6R3_ENST00000524845.1_Missense_Mutation_p.N568D|PPP6R3_ENST00000265636.5_Missense_Mutation_p.N517D|PPP6R3_ENST00000265637.4_Missense_Mutation_p.N551D|PPP6R3_ENST00000393801.3_Missense_Mutation_p.N597D|PPP6R3_ENST00000529710.1_Missense_Mutation_p.N517D|PPP6R3_ENST00000524904.1_Missense_Mutation_p.N591D|PPP6R3_ENST00000527403.2_Missense_Mutation_p.N562D Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 597 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TATTTAGGGAAATATTGCCTT 0.323 4 30 --- --- --- --- CCDC81 60494 broad.mit.edu 37 11 86131085 86131085 + Missense_Mutation SNP G G A rs144706705 TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr11:86131085G>A ENST00000278487.3 + 13 2091 c.1012G>A c.(1012-1014)Gct>Act p.A338T CCDC81_ENST00000445632.2_Missense_Mutation_p.A603T|CCDC81_ENST00000528728.1_Missense_Mutation_p.A338T|CCDC81_ENST00000354755.1_Missense_Mutation_p.A513T Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 603 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) GGAGGACAAGGCTTTTGAACG 0.507 12 29 --- --- --- --- SRRM4 84530 broad.mit.edu 37 12 119583327 119583327 + Missense_Mutation SNP C C T TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr12:119583327C>T ENST00000267260.4 + 9 1301 c.913C>T c.(913-915)Cgg>Tgg p.R305W NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 305 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 AGCCAGGTCTCGGGGCCAGGA 0.632 5 15 --- --- --- --- TEX29 121793 broad.mit.edu 37 13 111973280 111973280 + Silent SNP C C T TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr13:111973280C>T ENST00000283547.1 + 2 172 c.43C>T c.(43-45)Ctg>Ttg p.L15L NM_152324.1 NP_689537.1 Q8N6K0 CM016_HUMAN testis expressed 29 15 integral to membrane GCGGCACCTCCTGAAGCAATT 0.627 10 71 --- --- --- --- C14orf105 55195 broad.mit.edu 37 14 57960372 57960372 + Missense_Mutation SNP T T C TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr14:57960372T>C ENST00000216445.3 - 1 198 c.62A>G c.(61-63)aAa>aGa p.K21R C14orf105_ENST00000526336.1_Missense_Mutation_p.K21R|C14orf105_ENST00000422976.2_Missense_Mutation_p.K21R|C14orf105_ENST00000534126.1_Missense_Mutation_p.K21R NM_001283057.1|NM_018168.2 NP_001269986.1|NP_060638.2 Q9NVL8 CN105_HUMAN chromosome 14 open reading frame 105 21 breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 CTCTACCTCTTTGTTTTGCAA 0.463 5 22 --- --- --- --- PPM1A 5494 broad.mit.edu 37 14 60749576 60749576 + Nonsense_Mutation SNP C C A TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr14:60749576C>A ENST00000395076.4 + 2 585 c.155C>A c.(154-156)tCg>tAg p.S52* PPM1A_ENST00000529574.1_Nonsense_Mutation_p.S52*|PPM1A_ENST00000325642.3_Nonsense_Mutation_p.S125*|PPM1A_ENST00000325658.3_Nonsense_Mutation_p.S52* NM_021003.4 NP_066283.1 P35813 PPM1A_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1A 52 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.046) GGACTTGAATCGTGGTCATTC 0.473 13 244 --- --- --- --- SMOC1 64093 broad.mit.edu 37 14 70480116 70480116 + Silent SNP G G A rs147765593 TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr14:70480116G>A ENST00000381280.4 + 10 1207 c.954G>A c.(952-954)ggG>ggA p.G318G SMOC1_ENST00000361956.3_Silent_p.G318G NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 318 cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) GTCCAGAAGGGAAGAAAATGG 0.443 OREG0022771 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 25 --- --- --- --- PPP1R13B 23368 broad.mit.edu 37 14 104251154 104251154 + Silent SNP G G A TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr14:104251154G>A ENST00000202556.9 - 3 537 c.255C>T c.(253-255)tcC>tcT p.S85S NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 85 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) TCTCAGTTGGGGAGTCCTCGT 0.368 4 40 --- --- --- --- IGHA1 3493 broad.mit.edu 37 14 106174901 106174901 + RNA SNP C C G TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr14:106174901C>G ENST00000390547.2 - 0 101 TGAGTGGCTCCTGGGGGAAGA 0.652 11 26 --- --- --- --- KNSTRN 90417 broad.mit.edu 37 15 40675138 40675138 + Silent SNP T T C TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr15:40675138T>C ENST00000416151.2 + 1 217 c.102T>C c.(100-102)ttT>ttC p.F34F KNSTRN_ENST00000249776.8_Silent_p.F34F|KNSTRN_ENST00000448395.2_Silent_p.F34F NM_001142761.1 NP_001136233.1 kinetochore-localized astrin/SPAG5 binding protein ACCGGAAGTTTCTATTTGAAA 0.597 13 46 --- --- --- --- ISLR 3671 broad.mit.edu 37 15 74467974 74467974 + Missense_Mutation SNP G G A TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr15:74467974G>A ENST00000249842.3 + 2 1132 c.775G>A c.(775-777)Gtg>Atg p.V259M RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.V259M NM_005545.3 NP_005536.1 O14498 ISLR_HUMAN immunoglobulin superfamily containing leucine-rich repeat 259 Ig-like. cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 GCACTGTGATGTGGACGGGCA 0.642 13 45 --- --- --- --- LINGO1 84894 broad.mit.edu 37 15 77907021 77907021 + Missense_Mutation SNP A A T TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr15:77907021A>T ENST00000355300.6 - 2 1402 c.1228T>A c.(1228-1230)Ttc>Atc p.F410I LINGO1_ENST00000561030.1_Missense_Mutation_p.F404I NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 410 LRRCT. 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 ACATCAGGGAAGTCCTTGAAC 0.662 5 10 --- --- --- --- PDE8A 5151 broad.mit.edu 37 15 85626866 85626866 + Missense_Mutation SNP T T A TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr15:85626866T>A ENST00000310298.4 + 7 878 c.626T>A c.(625-627)cTg>cAg p.L209Q PDE8A_ENST00000339708.5_Missense_Mutation_p.L209Q|PDE8A_ENST00000557957.1_Missense_Mutation_p.L137Q|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000394553.1_Missense_Mutation_p.L209Q O60658 PDE8A_HUMAN phosphodiesterase 8A 209 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) CGATCACAACTGAAACTCAGG 0.468 5 23 --- --- --- --- MMP25 64386 broad.mit.edu 37 16 3100525 3100525 + Missense_Mutation SNP G G T TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr16:3100525G>T ENST00000336577.4 + 4 876 c.639G>T c.(637-639)gaG>gaT p.E213D MMP25_ENST00000570755.1_3'UTR NM_022468.4 NP_071913.1 Q9NPA2 MMP25_HUMAN matrix metallopeptidase 25 213 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 14 ACGATGAGGAGACCTGGACTT 0.512 11 30 --- --- --- --- PARN 5073 broad.mit.edu 37 16 14540829 14540829 + Missense_Mutation SNP T T A TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr16:14540829T>A ENST00000437198.2 - 23 1921 c.1780A>T c.(1780-1782)Acc>Tcc p.T594S PARN_ENST00000420015.2_Missense_Mutation_p.T548S|PARN_ENST00000341484.7_Missense_Mutation_p.T533S|PARN_ENST00000539279.1_Missense_Mutation_p.T419S NM_001134477.2|NM_002582.3 NP_001127949.1|NP_002573.1 O95453 PARN_HUMAN poly(A)-specific ribonuclease 594 female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification cytosol|nucleolus metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1) 21 CAGGAATCGGTCTGCTCAAGC 0.488 15 42 --- --- --- --- GPR97 222487 broad.mit.edu 37 16 57718006 57718006 + Silent SNP C C T TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr16:57718006C>T ENST00000333493.4 + 9 1205 c.1044C>T c.(1042-1044)ttC>ttT p.F348F GPR97_ENST00000327655.6_Silent_p.F138F|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.F228F NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 348 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TCCACTACTTCCTGCTCTGTG 0.587 14 40 --- --- --- --- ADAMTS18 170692 broad.mit.edu 37 16 77396062 77396062 + Missense_Mutation SNP C C A TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr16:77396062C>A ENST00000282849.5 - 7 1574 c.1156G>T c.(1156-1158)Gcc>Tcc p.A386S NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 386 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 AGTAAGATGGCATGATCATGT 0.418 3 29 --- --- --- --- CA5A 763 broad.mit.edu 37 16 87960438 87960438 + Missense_Mutation SNP A A G TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr16:87960438A>G ENST00000309893.2 - 2 321 c.256T>C c.(256-258)Tcc>Ccc p.S86P CA5A_ENST00000568801.1_5'UTR NM_001739.1 NP_001730.1 P35218 CAH5A_HUMAN carbonic anhydrase VA, mitochondrial 86 one-carbon metabolic process mitochondrial matrix carbonate dehydratase activity|zinc ion binding large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(80;0.0513) GCTTCATAGGAGACCCTGAGT 0.602 11 17 --- --- --- --- NDEL1 81565 broad.mit.edu 37 17 8350176 8350176 + Silent SNP G G T TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr17:8350176G>T ENST00000334527.7 + 4 542 c.345G>T c.(343-345)gtG>gtT p.V115V NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000380025.4_Silent_p.V115V|NDEL1_ENST00000402554.3_Silent_p.V115V|NDEL1_ENST00000299734.7_Silent_p.V115V NM_030808.4 NP_110435.1 Q9GZM8 NDEL1_HUMAN nudE neurodevelopment protein 1-like 1 115 Interaction with KATNB1 (By similarity).|Required for interaction with PAFAH1B1.|Self-association (By similarity). chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|microtubule|spindle large_intestine(6)|lung(4)|skin(3) 13 ATAAGTATGTGAGAGAGCTGG 0.433 9 26 --- --- --- --- AOC3 8639 broad.mit.edu 37 17 41004623 41004623 + Silent SNP C C G rs141617446 TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr17:41004623C>G ENST00000308423.2 + 1 1423 c.1263C>G c.(1261-1263)gcC>gcG p.A421A NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 421 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) AGTCCCAGGCCCCCAAGACAA 0.592 7 32 --- --- --- --- PDK2 5164 broad.mit.edu 37 17 48182745 48182745 + Missense_Mutation SNP A A C TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr17:48182745A>C ENST00000503176.1 + 3 432 c.271A>C c.(271-273)Agc>Cgc p.S91R PDK2_ENST00000007708.3_Missense_Mutation_p.S27R NM_002611.4 NP_002602.2 Q15119 PDK2_HUMAN pyruvate dehydrogenase kinase, isozyme 2 91 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|nucleus ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity p.S91C(1) central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 20 GTATGTCCAGAGCCTCCTGGA 0.622 Autosomal Dominant Polycystic Kidney Disease 7 17 --- --- --- --- MRC2 9902 broad.mit.edu 37 17 60765674 60765674 + Missense_Mutation SNP C C T TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr17:60765674C>T ENST00000303375.5 + 21 3373 c.2971C>T c.(2971-2973)Ccc>Tcc p.P991S MRC2_ENST00000446119.2_5'UTR NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 991 C-type lectin 6. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 GGGCCAGGAACCCCAGAGCCG 0.607 8 23 --- --- --- --- EXOSC5 56915 broad.mit.edu 37 19 41897754 41897754 + Missense_Mutation SNP C C T TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr19:41897754C>T ENST00000221233.4 - 3 526 c.376G>A c.(376-378)Gcc>Acc p.A126T EXOSC5_ENST00000596905.1_Missense_Mutation_p.A88T|CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron NM_020158.3 NP_064543.3 Q9NQT4 EXOS5_HUMAN exosome component 5 126 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|protein binding|RNA binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 7 ACAGAGCCGGCATCGCTGACA 0.622 14 29 --- --- --- --- SIGLEC8 27181 broad.mit.edu 37 19 51958791 51958791 + Missense_Mutation SNP C C T TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr19:51958791C>T ENST00000321424.3 - 4 998 c.932G>A c.(931-933)gGg>gAg p.G311E SIGLEC8_ENST00000430817.1_Missense_Mutation_p.G202E|SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.G218E NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 311 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CTCCAGCAGCCCAGGGTTTGA 0.642 11 28 --- --- --- --- MYLK2 85366 broad.mit.edu 37 20 30418922 30418922 + Missense_Mutation SNP A A G TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr20:30418922A>G ENST00000375994.2 + 9 1675 c.1402A>G c.(1402-1404)Atg>Gtg p.M468V MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.M468V Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 468 Protein kinase. cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CATGTGGAGTATGGGGGTGAT 0.572 23 42 --- --- --- --- FAM83C 128876 broad.mit.edu 37 20 33875275 33875275 + Missense_Mutation SNP G G T TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr20:33875275G>T ENST00000374408.3 - 4 1403 c.1307C>A c.(1306-1308)cCc>cAc p.P436H NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 436 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) CAAGGTTAAGGGGCTGGTACT 0.632 8 20 --- --- --- --- RPRD1B 58490 broad.mit.edu 37 20 36686047 36686047 + Splice_Site SNP G G T TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr20:36686047G>T ENST00000373433.4 + 4 930 c.e4+1 NM_021215.3 NP_067038.1 Q9NQG5 RPR1B_HUMAN regulation of nuclear pre-mRNA domain containing 1B endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1) 12 ACCCCTCTTGGTAGGTCTTGA 0.517 OREG0025919 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 12 --- --- --- --- BAIAP2L2 80115 broad.mit.edu 37 22 38494424 38494424 + Silent SNP G G A TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr22:38494424G>A ENST00000381669.3 - 5 486 c.342C>T c.(340-342)ttC>ttT p.F114F BAIAP2L2_ENST00000332536.5_Silent_p.F114F NM_025045.4 NP_079321.3 Q6UXY1 BI2L2_HUMAN BAI1-associated protein 2-like 2 114 IMD. filopodium assembly|signal transduction cytoskeletal adaptor activity|SH3 domain binding large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 8 Melanoma(58;0.045) TCACTTTGATGAACTGCATGT 0.597 OREG0026556 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 39 --- --- --- --- DACH2 117154 broad.mit.edu 37 X 85769329 85769329 + Missense_Mutation SNP A A G TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chrX:85769329A>G ENST00000373131.1 + 2 699 c.536A>G c.(535-537)gAa>gGa p.E179G DACH2_ENST00000508860.1_Missense_Mutation_p.E25G|DACH2_ENST00000373125.4_Missense_Mutation_p.E192G|DACH2_ENST00000510272.1_5'UTR NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 GTGTTGCAGGAAAATGCCCGC 0.458 6 2 --- --- --- --- BRCA2 675 broad.mit.edu 37 13 32911237 32911237 + Frame_Shift_Del DEL T T - TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a01318-edcd-41e8-8be5-95fbc01e1e7e b7b750a0-fdaa-42a2-b583-989423ec1b45 g.chr13:32911237delT ENST00000544455.1 + 11 2972 c.2745delT c.(2743-2745)actfs p.T915fs BRCA2_ENST00000380152.3_Frame_Shift_Del_p.T915fs NM_000059.3 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 915 Interaction with NPM1. cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CAGACTTGACTTGTGTAAACG 0.333 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 17 34 --- --- --- ---