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 AMY2B 280 broad.mit.edu 37 1 104118115 104118115 + Nonsense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr1:104118115C>T uc001duq.2 + 9 1670 c.1054C>T c.(1054-1056)CGA>TGA p.R352* AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Nonsense_Mutation_p.R352*|AMY2B_uc001dus.1_RNA NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 352 Chloride (By similarity). carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) TGGTTTTACACGAGTAATGTC 0.338000 ATP1A1 476 broad.mit.edu 37 1 116941382 116941382 + Missense_Mutation SNP T T G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr1:116941382T>G uc001ege.2 + 16 2603 c.2264T>G c.(2263-2265)TTT>TGT p.F755C ATP1A1_uc010owv.1_Missense_Mutation_p.F724C|ATP1A1_uc010oww.1_Missense_Mutation_p.F755C|ATP1A1_uc010owx.1_Missense_Mutation_p.F724C|C1orf203_uc009whb.2_Intron|ATP1A1_uc001egh.2_5'Flank NM_000701 NP_000692 P05023 AT1A1_HUMAN Na+/K+ -ATPase alpha 1 subunit isoform a 755 Cytoplasmic (Potential). ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity ovary(1) 1 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) GATGACAACTTTGCCTCAATT 0.443000 HRNR 388697 broad.mit.edu 37 1 152188153 152188153 + Silent SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr1:152188153G>A uc001ezt.1 - 3 6028 c.5952C>T c.(5950-5952)TCC>TCT p.S1984S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1984 22. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AAGAGTGACCGGAGCCAGACT 0.592000 HRNR 388697 broad.mit.edu 37 1 152190998 152190998 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr1:152190998C>T uc001ezt.1 - 3 3183 c.3107G>A c.(3106-3108)AGC>AAC p.S1036N NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1036 12. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGGCCACGGCTTGAAGACCA 0.592000 FLG 2312 broad.mit.edu 37 1 152285533 152285533 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr1:152285533C>T uc001ezu.1 - 3 1865 c.1829G>A c.(1828-1830)GGG>GAG p.G610E uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 610 Filaggrin 3.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCCTGGGCCCCGATGATTG 0.572000 Ichthyosis LCE2D 353141 broad.mit.edu 37 1 152636662 152636662 + Missense_Mutation SNP G G C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr1:152636662G>C uc001fag.2 + 2 136 c.81G>C c.(79-81)AAG>AAC p.K27N NM_178430 NP_848517 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 27 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GTCCACCTAAGTGTCCCCCCA 0.582000 NHLH1 4807 broad.mit.edu 37 1 160340766 160340766 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr1:160340766C>T uc001fwa.2 + 2 687 c.245C>T c.(244-246)ACG>ATG p.T82M NM_005598 NP_005589 Q02575 HEN1_HUMAN nescient helix loop helix 1 82 Basic motif. cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_cancers(52;7.11e-19)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCCCACGCCACGCGAGAACGC 0.582000 PAPPA2 60676 broad.mit.edu 37 1 176709162 176709162 + Silent SNP G G C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr1:176709162G>C uc001gkz.2 + 14 5145 c.3981G>C c.(3979-3981)GTG>GTC p.V1327V PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1327 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TTATCAATGTGACCCATCACC 0.458000 F13B 2165 broad.mit.edu 37 1 197021789 197021789 + Silent SNP C C A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr1:197021789C>A uc001gtt.1 - 9 1574 c.1530G>T c.(1528-1530)GTG>GTT p.V510V NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 510 Sushi 8. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 AAGGATATTTCACTTCTCCTC 0.323000 ADORA1 134 broad.mit.edu 37 1 203134527 203134527 + Silent SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr1:203134527C>T uc001gze.1 + 4 913 c.480C>T c.(478-480)GGC>GGT p.G160G FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Silent_p.G160G|ADORA1_uc010pqg.1_Silent_p.G92G|ADORA1_uc009xak.1_Nonsense_Mutation_p.Q86*|ADORA1_uc010pqh.1_Silent_p.G193G NM_000674 NP_000665 P30542 AA1R_HUMAN adenosine A1 receptor 160 Extracellular (Potential). induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane large_intestine(1) 1 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) CAGCCAACGGCAGCATGGGGG 0.592000 SIPA1L2 57568 broad.mit.edu 37 1 232600638 232600638 + Missense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr1:232600638G>A uc001hvg.2 - 7 2926 c.2768C>T c.(2767-2769)TCC>TTC p.S923F SIPA1L2_uc001hvf.2_5'Flank NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 923 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GTCTACCGAGGACAGGAGGAC 0.413000 SLC16A9 220963 broad.mit.edu 37 10 61424004 61424004 + Silent SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr10:61424004C>T uc010qig.1 - 4 866 c.417G>A c.(415-417)GCG>GCA p.A139A NM_194298 NP_919274 Q7RTY1 MOT9_HUMAN solute carrier family 16 (monocarboxylic acid 139 Helical; (Potential). urate metabolic process integral to membrane|plasma membrane symporter activity skin(2)|ovary(1) 3 TCAGGCCAAGCGCTAGGCCTC 0.398000 LRIT1 26103 broad.mit.edu 37 10 85997381 85997381 + Missense_Mutation SNP A A G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr10:85997381A>G uc001kcz.1 - 2 206 c.184T>C c.(184-186)TCC>CCC p.S62P NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 62 LRR 1.|Lumenal (Potential). integral to endoplasmic reticulum membrane 0 CGCAGTCTGGAGGTGTCCGGG 0.657000 PDZD8 118987 broad.mit.edu 37 10 119133926 119133926 + Silent SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr10:119133926G>A uc001lde.1 - 1 1012 c.813C>T c.(811-813)ATC>ATT p.I271I NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 271 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) GCTGGTTGACGATGATGGAGG 0.597000 CTSD 1509 broad.mit.edu 37 11 1774867 1774867 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr11:1774867C>T uc001luc.1 - 9 1238 c.1105G>A c.(1105-1107)GGC>AGC p.G369S CTSD_uc009yda.1_RNA NM_001909 NP_001900 P07339 CATD_HUMAN cathepsin D preproprotein 369 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity 0 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;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCCATGAAGCCGCTCAGGCAG 0.657000 OR51M1 390059 broad.mit.edu 37 11 5410875 5410875 + Missense_Mutation SNP C C G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr11:5410875C>G uc010qzc.1 + 1 247 c.247C>G c.(247-249)CTG>GTG p.L83V HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 83 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTCACTGACCTGGGGCTGTG 0.478000 NLRP10 338322 broad.mit.edu 37 11 7982173 7982173 + Missense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr11:7982173G>A uc001mfv.1 - 2 1003 c.986C>T c.(985-987)ACG>ATG p.T329M NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 329 NACHT. ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTTCTCATCCGTGAAATAGGA 0.507000 OR4A15 81328 broad.mit.edu 37 11 55135528 55135528 + Missense_Mutation SNP G G T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr11:55135528G>T uc010rif.1 + 1 169 c.169G>T c.(169-171)GTC>TTC p.V57F NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 57 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GGTTTTATTTGTCACATTCTT 0.428000 MS4A14 84689 broad.mit.edu 37 11 60183390 60183390 + Missense_Mutation SNP C C A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr11:60183390C>A uc001npj.2 + 5 1514 c.949C>A c.(949-951)CCT>ACT p.P317T MS4A14_uc001npi.2_Missense_Mutation_p.P205T|MS4A14_uc001npn.2_Missense_Mutation_p.P55T|MS4A14_uc001npk.2_Missense_Mutation_p.P300T|MS4A14_uc001npl.2_Missense_Mutation_p.P55T|MS4A14_uc001npm.2_Missense_Mutation_p.P55T NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 317 integral to membrane receptor activity breast(1) 1 AGATATATCACCTGAAGACTT 0.443000 CAPN5 726 broad.mit.edu 37 11 76829348 76829348 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr11:76829348C>T uc001oxx.2 + 8 1302 c.1117C>T c.(1117-1119)CGC>TGC p.R373C CAPN5_uc009yup.2_Missense_Mutation_p.R413C|CAPN5_uc009yuq.2_Missense_Mutation_p.R409C|CAPN5_uc001oxy.2_Missense_Mutation_p.R413C|CAPN5_uc001oya.2_5'Flank NM_004055 NP_004046 O15484 CAN5_HUMAN calpain 5 373 Domain III. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity 0 GCGACAGAACCGCGGTGGCGG 0.627000 PCF11 51585 broad.mit.edu 37 11 82874885 82874885 + Silent SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr11:82874885G>A uc001ozx.3 + 3 828 c.483G>A c.(481-483)GTG>GTA p.V161V PCF11_uc010rsu.1_Silent_p.V161V NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 161 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 GCATCCATGTGAATCCTAAAT 0.343000 TECTA 7007 broad.mit.edu 37 11 121032936 121032936 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr11:121032936C>T uc010rzo.1 + 15 5129 c.5129C>T c.(5128-5130)CCC>CTC p.P1710L NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1710 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CTTCTCGATCCCCTCCCATTC 0.602000 OR8D2 283160 broad.mit.edu 37 11 124189623 124189623 + Silent SNP T T C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr11:124189623T>C uc010sah.1 - 1 471 c.471A>G c.(469-471)ACA>ACG p.T157T NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, 157 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|pancreas(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TAGTATGGACTGTGGCCCACA 0.453000 GALNT8 26290 broad.mit.edu 37 12 4874570 4874570 + Missense_Mutation SNP A A G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr12:4874570A>G uc001qne.1 + 10 1711 c.1619A>G c.(1618-1620)GAG>GGG p.E540G NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 540 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 CTAACTGGGGAGCTCTATGTG 0.498000 C12orf35 55196 broad.mit.edu 37 12 32136728 32136728 + Missense_Mutation SNP A A G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr12:32136728A>G uc001rks.2 + 4 3253 c.2839A>G c.(2839-2841)ACT>GCT p.T947A NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 947 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) AGATAATACCACTGAAAATAA 0.393000 COL2A1 1280 broad.mit.edu 37 12 48367927 48367927 + Missense_Mutation SNP A A G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr12:48367927A>G uc001rqu.2 - 53 4443 c.4262T>C c.(4261-4263)ATC>ACC p.I1421T COL2A1_uc001rqt.2_Missense_Mutation_p.I202T|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.I1352T NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 1421 Fibrillar collagen NC1. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CTCTGCCCGGATCTCCACGTC 0.582000 TRHDE 29953 broad.mit.edu 37 12 72863563 72863563 + Silent SNP G G A rs149072587 byFrequency TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr12:72863563G>A uc001sxa.2 + 4 1236 c.1206G>A c.(1204-1206)CCG>CCA p.P402P NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 402 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 CTAAGCATCCGTATGCTGCTA 0.368000 ANKS1B 56899 broad.mit.edu 37 12 100206067 100206067 + Nonsense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr12:100206067G>A uc001tge.1 - 3 655 c.238C>T c.(238-240)CAG>TAG p.Q80* ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Nonsense_Mutation_p.Q80* NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 80 ANK 2. Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GCCTCATACTGAAGTAGTTTG 0.348000 PTPN11 5781 broad.mit.edu 37 12 112891073 112891073 + Missense_Mutation SNP T T A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr12:112891073T>A uc001ttx.2 + 4 787 c.407T>A c.(406-408)CTT>CAT p.L136H PTPN11_uc001ttw.1_Missense_Mutation_p.L136H NM_002834 NP_002825 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 136 SH2 2. axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1) 392 GGTAGTTTTCTTGTACGAGAG 0.403000 Mis JMML|AML|MDS Noonan Syndrome Noonan_syndrome OASL 8638 broad.mit.edu 37 12 121458498 121458498 + Nonsense_Mutation SNP T T A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr12:121458498T>A uc001tzj.1 - 6 1417 c.1411A>T c.(1411-1413)AAA>TAA p.K471* OASL_uc001tzk.1_3'UTR NM_003733 NP_003724 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like isoform a 471 Ubiquitin-like 2. interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity skin(1) 1 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGCTGCTTTTTAGGAAGCCCC 0.537000 VPS33A 65082 broad.mit.edu 37 12 122750940 122750940 + Missense_Mutation SNP A A C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr12:122750940A>C uc001ucd.2 - 1 129 c.16T>G c.(16-18)TCC>GCC p.S6A VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Missense_Mutation_p.S6A NM_022916 NP_075067 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33A 6 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding skin(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) CGGCCGTAGGACAGATGAGCC 0.652000 ULK1 8408 broad.mit.edu 37 12 132380356 132380356 + Missense_Mutation SNP T T A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr12:132380356T>A uc001uje.2 + 3 501 c.233T>A c.(232-234)CTG>CAG p.L78Q NM_003565 NP_003556 O75385 ULK1_HUMAN Unc-51-like kinase 1 78 Protein kinase. autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) ATCGTGGCCCTGTACGACTTC 0.627000 C13orf34 79866 broad.mit.edu 37 13 73303150 73303150 + Silent SNP T T A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr13:73303150T>A uc001viv.1 + 2 191 c.72T>A c.(70-72)CCT>CCA p.P24P C13orf37_uc001viu.2_5'Flank|C13orf34_uc010thq.1_5'UTR|C13orf34_uc010aen.1_Silent_p.P99P|C13orf34_uc010thr.1_5'UTR|C13orf34_uc001viw.1_Silent_p.P24P NM_024808 NP_079084 Q6PGQ7 BORA_HUMAN aurora borealis 24 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding 0 Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.000227) TTTTAAATCCTTTTGAAAGTC 0.358000 MYCBP2 23077 broad.mit.edu 37 13 77636799 77636799 + Missense_Mutation SNP C C G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr13:77636799C>G uc001vkf.2 - 75 12683 c.12592G>C c.(12592-12594)GAT>CAT p.D4198H MYCBP2_uc010aev.2_Missense_Mutation_p.D3602H|MYCBP2_uc001vke.2_Missense_Mutation_p.D815H NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 4198 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TGGTCCTGATCAAGAACACAT 0.428000 MYCBP2 23077 broad.mit.edu 37 13 77671759 77671759 + Missense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr13:77671759G>A uc001vkf.2 - 57 9507 c.9416C>T c.(9415-9417)GCT>GTT p.A3139V MYCBP2_uc010aev.2_Missense_Mutation_p.A2543V|MYCBP2_uc001vkg.1_Missense_Mutation_p.A662V|MYCBP2_uc010aew.2_Missense_Mutation_p.A525V NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 3139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CTGGGAAGCAGCTTTGATAGT 0.299000 NALCN 259232 broad.mit.edu 37 13 101797186 101797186 + Missense_Mutation SNP A A C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr13:101797186A>C uc001vox.1 - 16 2090 c.1901T>G c.(1900-1902)TTT>TGT p.F634C NALCN_uc001voy.2_Missense_Mutation_p.F349C NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 634 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AAATTTTTCAAAGATTCGCAG 0.358000 TRIM9 114088 broad.mit.edu 37 14 51467488 51467488 + Silent SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr14:51467488C>T uc001wyx.3 - 6 2142 c.1377G>A c.(1375-1377)ACG>ACA p.T459T TRIM9_uc001wyy.2_Silent_p.T455T|TRIM9_uc001wyz.3_Silent_p.T459T NM_015163 NP_055978 Q9C026 TRIM9_HUMAN tripartite motif protein 9 isoform 1 459 Fibronectin type-III. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding skin(2)|lung(1) 3 all_epithelial(31;0.00418)|Breast(41;0.148) TCCAGGACAACGTAGCGCTGT 0.532000 KLC1 3831 broad.mit.edu 37 14 104053664 104053664 + Missense_Mutation SNP T T A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr14:104053664T>A uc010tyd.1 + 4 479 c.439T>A c.(439-441)TTA>ATA p.L147I C14orf153_uc001ynl.3_RNA|C14orf153_uc010tyc.1_Missense_Mutation_p.L160I NM_005552 NP_005543 Q07866 KLC1_HUMAN kinesin light chain 1 isoform 1 106 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding 0 Melanoma(154;0.155)|all_epithelial(191;0.19) CAAGGAATTTTTAAGTAAAAA 0.338000 ADSSL1 122622 broad.mit.edu 37 14 105201396 105201396 + Nonsense_Mutation SNP A A T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr14:105201396A>T uc001ypd.2 + 2 306 c.232A>T c.(232-234)AAA>TAA p.K78* INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Nonsense_Mutation_p.K121*|ADSSL1_uc001ypf.2_RNA NM_152328 NP_689541 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 isoform 2 78 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding ovary(1)|central_nervous_system(1) 2 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) GGTGGATGGGAAAGAGTACGA 0.612000 IGDCC3 9543 broad.mit.edu 37 15 65621754 65621754 + Missense_Mutation SNP C C A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr15:65621754C>A uc002aos.2 - 13 2431 c.2179G>T c.(2179-2181)GCA>TCA p.A727S IGDCC3_uc002aor.1_Missense_Mutation_p.A14S NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN putative neuronal cell adhesion molecule 727 Cytoplasmic (Potential). ovary(3) 3 GGCTGCCCTGCTGCGCTGGCC 0.642000 AXIN1 8312 broad.mit.edu 37 16 354405 354405 + Missense_Mutation SNP G G C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr16:354405G>C uc002cgp.1 - 5 1330 c.1153C>G c.(1153-1155)CCT>GCT p.P385A AXIN1_uc002cgq.1_Missense_Mutation_p.P385A NM_003502 NP_003493 O15169 AXIN1_HUMAN axin 1 isoform a 385 Interaction with GSK3B (By similarity). activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding breast(1)|liver(1) 2 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) AACTTCTGAGGCTCCACGCGG 0.642000 IGFALS 3483 broad.mit.edu 37 16 1841608 1841608 + Missense_Mutation SNP G G C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr16:1841608G>C uc002cmy.2 - 2 892 c.811C>G c.(811-813)CTG>GTG p.L271V IGFALS_uc010uvn.1_Missense_Mutation_p.L309V|IGFALS_uc010uvo.1_5'UTR NM_004970 NP_004961 P35858 ALS_HUMAN insulin-like growth factor binding protein, acid 271 LRR 9. cell adhesion|signal transduction soluble fraction insulin-like growth factor binding 0 GACAGGTCCAGCCATCGCAGC 0.692000 LRRC29 26231 broad.mit.edu 37 16 67241591 67241591 + Missense_Mutation SNP T T C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr16:67241591T>C uc002esd.2 - 4 1486 c.589A>G c.(589-591)AGA>GGA p.R197G LRRC29_uc002ese.2_Missense_Mutation_p.R197G|LRRC29_uc002esf.2_Missense_Mutation_p.R197G|LRRC29_uc002esg.2_Missense_Mutation_p.R197G NM_012163 NP_036295 Q8WV35 LRC29_HUMAN F-box and leucine-rich repeat protein 9 197 LRR 7. 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) TGGAAGCGTCTGACGGCGGCC 0.642000 GALNS 2588 broad.mit.edu 37 16 88884510 88884510 + Missense_Mutation SNP C C G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr16:88884510C>G uc002fly.3 - 13 1476 c.1387G>C c.(1387-1389)GAG>CAG p.E463Q GALNS_uc002flx.2_RNA|GALNS_uc010cid.2_Missense_Mutation_p.E469Q|GALNS_uc002flz.3_Missense_Mutation_p.E146Q NM_000512 NP_000503 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfate sulfatase 463 lysosome metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity large_intestine(2) 2 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) CTGAGGGCCTCCTGGTACTCG 0.667000 BCL6B 255877 broad.mit.edu 37 17 6927474 6927474 + Silent SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr17:6927474C>T uc002geg.2 + 3 309 c.252C>T c.(250-252)CCC>CCT p.P84P BCL6B_uc010clt.1_Silent_p.P84P NM_181844 NP_862827 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B (zinc finger 84 BTB. nucleus zinc ion binding skin(1) 1 CCGGGGGTCCCGAAGCGAGAG 0.602000 ZBTB4 57659 broad.mit.edu 37 17 7369455 7369455 + Silent SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr17:7369455G>A uc002ghc.3 - 3 916 c.666C>T c.(664-666)GCC>GCT p.A222A ZBTB4_uc002ghd.3_Silent_p.A222A NM_001128833 NP_001122305 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 222 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) GCAAGTCAGGGGCCTGGGCCT 0.692000 TP53 7157 broad.mit.edu 37 17 7577570 7577570 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr17:7577570C>T uc002gim.2 - 7 905 c.711G>A c.(709-711)ATG>ATA p.M237I TP53_uc002gig.1_Missense_Mutation_p.M237I|TP53_uc002gih.2_Missense_Mutation_p.M237I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.M105I|TP53_uc010cng.1_Missense_Mutation_p.M105I|TP53_uc002gii.1_Missense_Mutation_p.M105I|TP53_uc010cnh.1_Missense_Mutation_p.M237I|TP53_uc010cni.1_Missense_Mutation_p.M237I|TP53_uc002gij.2_Missense_Mutation_p.M237I|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.M144I|TP53_uc002gio.2_Missense_Mutation_p.M105I NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 237 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). M -> L (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.M237I(99)|p.M237K(8)|p.0?(7)|p.M237V(6)|p.M237fs*10(4)|p.M237R(3)|p.M237T(2)|p.M237L(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.M237_N239delMCN(1)|p.H233fs*6(1)|p.M144I(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AACTGTTACACATGTAGTTGT 0.567000 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) HOXB13 10481 broad.mit.edu 37 17 46805729 46805729 + Missense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr17:46805729G>A uc002ioa.2 - 1 383 c.227C>T c.(226-228)GCT>GTT p.A76V NM_006361 NP_006352 Q92826 HXB13_HUMAN homeobox B13 76 angiogenesis|epidermis development|response to wounding sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 AGGCACGGGAGCTGGGGACGT 0.657000 SCN4A 6329 broad.mit.edu 37 17 62045625 62045625 + Missense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr17:62045625G>A uc002jds.1 - 6 871 c.794C>T c.(793-795)GCG>GTG p.A265V NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 265 I.|Helical; Name=S5 of repeat I; (Potential). muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) TCCTACCAGCGCAAAGACGCT 0.582000 GNA13 10672 broad.mit.edu 37 17 63052577 63052577 + Silent SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr17:63052577C>T uc002jfc.2 - 1 344 c.135G>A c.(133-135)GTG>GTA p.V45V GNA13_uc010wqh.1_5'Flank NM_006572 NP_006563 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), 45 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding 0 CCAGCCGCTTCACATAGGTCT 0.622000 ABCA5 23461 broad.mit.edu 37 17 67303037 67303037 + Missense_Mutation SNP C C G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr17:67303037C>G uc002jif.2 - 5 1835 c.617G>C c.(616-618)GGA>GCA p.G206A ABCA5_uc002jig.2_Missense_Mutation_p.G206A|ABCA5_uc002jih.2_Missense_Mutation_p.G206A|ABCA5_uc010dfe.2_Missense_Mutation_p.G206A NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 206 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) AGCAGTTTCTCCCATAATAAC 0.313000 ANKRD12 23253 broad.mit.edu 37 18 9255014 9255014 + Silent SNP T T C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr18:9255014T>C uc002knv.2 + 9 2006 c.1749T>C c.(1747-1749)TAT>TAC p.Y583Y ANKRD12_uc002knw.2_Silent_p.Y560Y|ANKRD12_uc002knx.2_Silent_p.Y560Y|ANKRD12_uc010dkx.1_Silent_p.Y290Y NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 583 nucleus ovary(2)|central_nervous_system(1) 3 TTGTTCGGTATGATAATACAG 0.328000 ZNF521 25925 broad.mit.edu 37 18 22805131 22805131 + Silent SNP G G T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr18:22805131G>T uc002kvk.2 - 4 2998 c.2751C>A c.(2749-2751)GCC>GCA p.A917A ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.A917A|ZNF521_uc002kvl.2_Silent_p.A697A NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 917 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TTTTCACGATGGCACTTTCTC 0.488000 T PAX5 ALL KCTD1 284252 broad.mit.edu 37 18 24035839 24035839 + Silent SNP T T C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr18:24035839T>C uc002kvw.2 - 5 1202 c.642A>G c.(640-642)GGA>GGG p.G214G KCTD1_uc010xbj.1_Silent_p.G822G|KCTD1_uc010xbk.1_Silent_p.G214G|KCTD1_uc002kvy.2_3'UTR NM_001136205 NP_001129677 Q719H9 KCTD1_HUMAN potassium channel tetramerisation domain 214 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity ovary(1) 1 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) CGATTTCAAATCCTCTTTGCT 0.562000 TCEB3C 162699 broad.mit.edu 37 18 44549225 44549225 + Silent SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr18:44549225G>A uc010dnr.2 - 1 1074 c.1074C>T c.(1072-1074)GTC>GTT p.V358V KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_001100817 NP_001094287 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 358 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding 0 CCGAGTAGGGGACCCCTTCCA 0.642000 PCSK4 54760 broad.mit.edu 37 19 1488005 1488005 + Silent SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr19:1488005G>A uc002ltb.1 - 4 536 c.474C>T c.(472-474)GAC>GAT p.D158D PCSK4_uc002lta.2_Translation_Start_Site NM_017573 NP_060043 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 158 Catalytic (By similarity). Charge relay system (By similarity). proteolysis integral to membrane serine-type endopeptidase activity 0 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGATGCCATCGTCCAGCACAG 0.682000 KCNJ14 3770 broad.mit.edu 37 19 48967993 48967993 + Nonsense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr19:48967993C>T uc002pje.1 + 3 1675 c.1270C>T c.(1270-1272)CGA>TGA p.R424* KCNJ14_uc002pjf.1_Nonsense_Mutation_p.R424* NM_013348 NP_037480 Q9UNX9 IRK14_HUMAN potassium inwardly-rectifying channel J14 424 Cytoplasmic (By similarity). voltage-gated potassium channel complex inward rectifier potassium channel activity skin(1) 1 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222) TGCTAGCCCCCGAGTTCTCAC 0.572000 ZNF132 7691 broad.mit.edu 37 19 58944795 58944795 + Silent SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr19:58944795C>T uc002qst.3 - 3 2417 c.2016G>A c.(2014-2016)CGG>CGA p.R672R NM_003433 NP_003424 P52740 ZN132_HUMAN zinc finger protein 132 672 C2H2-type 17. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) CTTTCTGGTGCCGAACAAGTG 0.448000 DTNB 1838 broad.mit.edu 37 2 25656795 25656795 + Missense_Mutation SNP G G C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr2:25656795G>C uc002rgh.2 - 13 1577 c.1327C>G c.(1327-1329)CTG>GTG p.L443V DTNB_uc002rgg.2_Missense_Mutation_p.L72V|DTNB_uc010yko.1_Missense_Mutation_p.L386V|DTNB_uc010ykp.1_Missense_Mutation_p.L239V|DTNB_uc002rgo.2_Missense_Mutation_p.L234V|DTNB_uc002rgi.2_Missense_Mutation_p.L443V|DTNB_uc002rgj.2_Missense_Mutation_p.L443V|DTNB_uc002rgk.2_Missense_Mutation_p.L413V|DTNB_uc002rgl.2_Missense_Mutation_p.L413V|DTNB_uc002rgq.2_Missense_Mutation_p.L443V|DTNB_uc002rgm.2_Missense_Mutation_p.L413V|DTNB_uc002rgn.2_Missense_Mutation_p.L239V|DTNB_uc002rgr.1_Missense_Mutation_p.L432V|DTNB_uc010ykq.1_Missense_Mutation_p.L296V NM_021907 NP_068707 O60941 DTNB_HUMAN dystrobrevin, beta isoform 1 443 Potential.|Syntrophin-binding region. cytoplasm calcium ion binding|zinc ion binding large_intestine(2)|ovary(2) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTGTTTTCCAGTTCTGCAATA 0.438000 ASXL2 55252 broad.mit.edu 37 2 25966067 25966067 + Missense_Mutation SNP A A C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr2:25966067A>C uc002rgs.2 - 12 3360 c.3139T>G c.(3139-3141)TCC>GCC p.S1047A ASXL2_uc002rgt.1_Intron NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 1047 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCAATGCTGGAGTCCCTCAGC 0.517000 ZNF512 84450 broad.mit.edu 37 2 27838091 27838091 + Nonsense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr2:27838091G>A uc002rla.2 + 11 1275 c.1188G>A c.(1186-1188)TGG>TGA p.W396* ZNF512_uc010ylv.1_Nonsense_Mutation_p.W317*|ZNF512_uc010ylw.1_Nonsense_Mutation_p.W367*|ZNF512_uc002rlb.2_Nonsense_Mutation_p.W317*|ZNF512_uc010ylx.1_Nonsense_Mutation_p.W317*|ZNF512_uc002rlc.2_Nonsense_Mutation_p.W317*|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_Nonsense_Mutation_p.W289* NM_032434 NP_115810 Q96ME7 ZN512_HUMAN zinc finger protein 512 396 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) TACATAAATGGAAGACAGATA 0.318000 CEBPZ 10153 broad.mit.edu 37 2 37455880 37455880 + Silent SNP A A G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr2:37455880A>G uc002rpz.2 - 2 486 c.456T>C c.(454-456)AAT>AAC p.N152N C2orf56_uc010ynj.1_5'Flank|C2orf56_uc002rqa.3_5'Flank|C2orf56_uc002rqc.3_5'Flank|C2orf56_uc010ynk.1_5'Flank|C2orf56_uc010ynl.1_5'Flank NM_005760 NP_005751 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein zeta 152 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding pancreas(1) 1 all_hematologic(82;0.21) TGGTACTGCCATTCTCATCAG 0.338000 IMMT 10989 broad.mit.edu 37 2 86378626 86378626 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr2:86378626C>T uc002sqz.3 - 12 1583 c.1195G>A c.(1195-1197)GAT>AAT p.D399N IMMT_uc002sqy.3_Missense_Mutation_p.D140N|IMMT_uc002srb.3_Missense_Mutation_p.D388N|IMMT_uc002sra.3_Missense_Mutation_p.D398N|IMMT_uc010ytd.1_Missense_Mutation_p.D387N|IMMT_uc010yte.1_Missense_Mutation_p.D352N|IMMT_uc002src.1_Missense_Mutation_p.D135N NM_006839 NP_006830 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial isoform 1 399 Mitochondrial intermembrane (Potential). integral to mitochondrial inner membrane protein binding skin(1) 1 TTCAGATCATCAGTAGAGAGC 0.408000 CCDC74A 90557 broad.mit.edu 37 2 132285734 132285734 + Missense_Mutation SNP A A C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr2:132285734A>C uc002tta.2 + 1 243 c.191A>C c.(190-192)CAC>CCC p.H64P CCDC74A_uc010fnb.1_Missense_Mutation_p.H64P|CCDC74A_uc002ttb.2_Missense_Mutation_p.H64P NM_138770 NP_620125 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 64 Potential. skin(1) 1 CAGCAGCAGCACTCGGAGATG 0.652000 ZAK 51776 broad.mit.edu 37 2 174047608 174047608 + Missense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr2:174047608G>A uc002uhz.2 + 4 474 c.274G>A c.(274-276)GAT>AAT p.D92N ZAK_uc002uhx.2_Missense_Mutation_p.D92N|ZAK_uc002uhy.2_Missense_Mutation_p.D92N|ZAK_uc010zei.1_5'UTR|ZAK_uc002uia.1_Missense_Mutation_p.D92N NM_016653 NP_057737 Q9NYL2 MLTK_HUMAN MLK-related kinase isoform 1 92 Protein kinase. activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation cytoplasm|nucleus ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding lung(3)|stomach(1)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.176) ATCACTCTATGATTACATTAA 0.299000 TFPI 7035 broad.mit.edu 37 2 188348868 188348868 + Missense_Mutation SNP T T A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr2:188348868T>A uc002upx.2 - 6 644 c.611A>T c.(610-612)AAG>ATG p.K204M TFPI_uc002upy.2_Missense_Mutation_p.K204M|TFPI_uc002upz.2_Missense_Mutation_p.K200M|TFPI_uc002uqa.2_Missense_Mutation_p.K204M|TFPI_uc002uqb.2_Missense_Mutation_p.K204M NM_006287 NP_006278 P10646 TFPI1_HUMAN tissue factor pathway inhibitor isoform a 204 blood coagulation, extrinsic pathway extracellular space|plasma membrane serine-type endopeptidase inhibitor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0554) Coagulation factor VIIa(DB00036) GCTGGGAACCTTGGTTGATTG 0.388000 DNAH7 56171 broad.mit.edu 37 2 196729058 196729058 + Missense_Mutation SNP C C G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr2:196729058C>G uc002utj.3 - 41 7422 c.7321G>C c.(7321-7323)GAT>CAT p.D2441H NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2441 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 CGCTGGCGATCTAACTGACGC 0.443000 ERBB4 2066 broad.mit.edu 37 2 212288966 212288966 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr2:212288966C>T uc002veg.1 - 23 2878 c.2780G>A c.(2779-2781)CGA>CAA p.R927Q ERBB4_uc002veh.1_Missense_Mutation_p.R927Q|ERBB4_uc010zji.1_Missense_Mutation_p.R917Q|ERBB4_uc010zjj.1_Missense_Mutation_p.R917Q NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 927 Protein kinase.|Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) AGGGATTTCTCGCGTTGGAAT 0.383000 TSP Lung(8;0.080) COL6A3 1293 broad.mit.edu 37 2 238280910 238280910 + Silent SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr2:238280910G>A uc002vwl.2 - 9 4035 c.3750C>T c.(3748-3750)TAC>TAT p.Y1250Y COL6A3_uc002vwo.2_Silent_p.Y1044Y|COL6A3_uc010znj.1_Silent_p.Y643Y|COL6A3_uc002vwq.2_Silent_p.Y1044Y|COL6A3_uc002vwr.2_Silent_p.Y843Y NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1250 VWFA 7.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGGTGCGAACGTACTGGAACT 0.572000 SLC23A2 9962 broad.mit.edu 37 20 4854604 4854604 + Silent SNP C C A rs62636560 byFrequency TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr20:4854604C>A uc002wlg.1 - 11 1455 c.1080G>T c.(1078-1080)CCG>CCT p.P360P SLC23A2_uc010zqr.1_Silent_p.P245P|SLC23A2_uc002wlh.1_Silent_p.P360P|SLC23A2_uc002wli.2_Silent_p.P359P NM_005116 NP_005107 Q9UGH3 S23A2_HUMAN solute carrier family 23 (nucleobase 360 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 CCTTAAACCACGGGGCTACCA 0.547000 XRN2 22803 broad.mit.edu 37 20 21306950 21306950 + Missense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr20:21306950G>A uc002wsf.1 + 2 204 c.109G>A c.(109-111)GAT>AAT p.D37N XRN2_uc002wsg.1_Intron|XRN2_uc010zsk.1_5'UTR NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 37 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding skin(1) 1 GATTCCAGTTGATGCCAGTAA 0.363000 SSTR4 6754 broad.mit.edu 37 20 23016831 23016831 + Missense_Mutation SNP G G C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr20:23016831G>C uc002wsr.2 + 1 775 c.711G>C c.(709-711)AAG>AAC p.K237N NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 237 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) TCGTGGGCAAGATGCGCGCCG 0.642000 NANP 140838 broad.mit.edu 37 20 25597072 25597072 + Missense_Mutation SNP G G C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr20:25597072G>C uc002wuy.2 - 2 300 c.236C>G c.(235-237)GCA>GGA p.A79G NM_152667 NP_689880 Q8TBE9 NANP_HUMAN N-acetylneuraminic acid phosphatase 79 N-acetylneuraminate biosynthetic process N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity 0 TTCCTGGATTGCTTCTTCCCA 0.363000 TAF4 6874 broad.mit.edu 37 20 60582625 60582625 + Missense_Mutation SNP G G C rs6089604 TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr20:60582625G>C uc002ybs.2 - 6 1952 c.1952C>G c.(1951-1953)CCT>CGT p.P651R NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 651 TAFH. interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) CACAAGGTAAGGTTGAGGTGA 0.478000 MYO18B 84700 broad.mit.edu 37 22 26224916 26224916 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr22:26224916C>T uc003abz.1 + 15 3210 c.2960C>T c.(2959-2961)ACG>ATG p.T987M MYO18B_uc003aca.1_Missense_Mutation_p.T868M|MYO18B_uc010guy.1_Missense_Mutation_p.T868M|MYO18B_uc010guz.1_Missense_Mutation_p.T868M|MYO18B_uc011aka.1_Missense_Mutation_p.T141M|MYO18B_uc011akb.1_Missense_Mutation_p.T500M NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 987 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 TTTGTCTCCACGCTACAGCGA 0.597000 MYH9 4627 broad.mit.edu 37 22 36690172 36690172 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr22:36690172C>T uc003apg.2 - 28 4034 c.3803G>A c.(3802-3804)CGC>CAC p.R1268H NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1268 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 CAGCTCTGTGCGCACGCGCTC 0.667000 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated SRGAP3 9901 broad.mit.edu 37 3 9100112 9100112 + Silent SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr3:9100112C>T uc003brf.1 - 7 1522 c.846G>A c.(844-846)CGG>CGA p.R282R SRGAP3_uc003brg.1_Silent_p.R282R|SRGAP3_uc003bri.1_RNA|SRGAP3_uc003brj.1_Silent_p.R142R NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 282 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) AGAGATAGGTCCGGAAGGTGC 0.572000 T RAF1 pilocytic astrocytoma THRB 7068 broad.mit.edu 37 3 24164613 24164613 + Missense_Mutation SNP C C T rs121918708 TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr3:24164613C>T uc003ccx.3 - 11 1497 c.1148G>A c.(1147-1149)CGC>CAC p.R383H THRB_uc010hfe.2_Missense_Mutation_p.R383H|THRB_uc003ccy.3_Missense_Mutation_p.R383H|THRB_uc003ccz.3_Missense_Mutation_p.R378H NM_001128176 NP_001121648 P10828 THB_HUMAN thyroid hormone receptor, beta 383 Ligand-binding.|Interaction with NR2F6. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding skin(2)|pancreas(1) 3 Levothyroxine(DB00451)|Liothyronine(DB00279) AAGCCCCGGGCGATCTGCGGG 0.498000 SUSD5 26032 broad.mit.edu 37 3 33195166 33195166 + Missense_Mutation SNP C C A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr3:33195166C>A uc003cfo.1 - 5 1376 c.958G>T c.(958-960)GCT>TCT p.A320S NM_015551 NP_056366 O60279 SUSD5_HUMAN sushi domain containing 5 precursor 320 Extracellular (Potential). cell adhesion integral to membrane hyaluronic acid binding ovary(1)|central_nervous_system(1) 2 TTGTCTCCAGCAGAAAACTGC 0.517000 KLHL18 23276 broad.mit.edu 37 3 47364083 47364083 + Missense_Mutation SNP G G T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr3:47364083G>T uc003crd.2 + 3 412 c.286G>T c.(286-288)GCC>TCC p.A96S KLHL18_uc003crc.2_Missense_Mutation_p.A96S|KLHL18_uc011bav.1_5'UTR NM_025010 NP_079286 O94889 KLH18_HUMAN kelch-like 18 96 BTB. 0 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) GATCAACTTTGCCTACAACGG 0.557000 CADPS 8618 broad.mit.edu 37 3 62459960 62459960 + Missense_Mutation SNP G G T rs151301388 TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr3:62459960G>T uc003dll.2 - 24 3725 c.3365C>A c.(3364-3366)ACC>AAC p.T1122N CADPS_uc003dlj.1_Missense_Mutation_p.T72N|CADPS_uc003dlk.1_Missense_Mutation_p.T570N|CADPS_uc003dlm.2_Missense_Mutation_p.T1083N|CADPS_uc003dln.2_Missense_Mutation_p.T1043N NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 1122 Interaction with DRD2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TGATCGACTGGTTTTTTGCAG 0.393000 ROBO1 6091 broad.mit.edu 37 3 78656095 78656095 + Missense_Mutation SNP A A G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr3:78656095A>G uc003dqe.2 - 29 4740 c.4532T>C c.(4531-4533)CTC>CCC p.L1511P ROBO1_uc003dqb.2_Missense_Mutation_p.L1472P|ROBO1_uc003dqc.2_Missense_Mutation_p.L1411P|ROBO1_uc003dqd.2_Missense_Mutation_p.L1466P|ROBO1_uc010hoh.2_Missense_Mutation_p.L703P|ROBO1_uc011bgl.1_Missense_Mutation_p.L1083P NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 1511 Cytoplasmic (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) CATAGAAGGGAGTTTTGGCAC 0.488000 EPHA3 2042 broad.mit.edu 37 3 89390956 89390956 + Missense_Mutation SNP T T C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr3:89390956T>C uc003dqy.2 + 5 1247 c.1022T>C c.(1021-1023)GTT>GCT p.V341A EPHA3_uc003dqx.1_Missense_Mutation_p.V341A|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 341 Extracellular (Potential).|Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GAGACCTCAGTTATCCTGGAC 0.413000 TSP Lung(6;0.00050) FILIP1L 11259 broad.mit.edu 37 3 99569912 99569912 + Nonsense_Mutation SNP A A T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr3:99569912A>T uc003dtm.2 - 5 1071 c.608T>A c.(607-609)TTA>TAA p.L203* C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Nonsense_Mutation_p.L203*|FILIP1L_uc010hpf.2_5'UTR|FILIP1L_uc010hpg.2_5'UTR|FILIP1L_uc003dtn.2_5'UTR|FILIP1L_uc003dtp.1_5'UTR NM_182909 NP_878913 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like isoform 1 203 Potential. cytoplasm|membrane|myosin complex|nucleus ovary(1) 1 TAGCTTCTTTAATCTGAAAAA 0.328000 SLC7A14 57709 broad.mit.edu 37 3 170244454 170244454 + Missense_Mutation SNP A A T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr3:170244454A>T uc003fgz.2 - 2 588 c.272T>A c.(271-273)TTC>TAC p.F91Y CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 91 Helical; (Potential). integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) TGCAATGATGAAGGACACAAT 0.532000 ATP11B 23200 broad.mit.edu 37 3 182587059 182587059 + Silent SNP C C G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr3:182587059C>G uc003flb.2 + 17 2063 c.1806C>G c.(1804-1806)CTC>CTG p.L602L ATP11B_uc003flc.2_Silent_p.L186L NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 602 Cytoplasmic (Potential). aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) CATCAATTCTCCCTAAATGTA 0.284000 WDFY3 23001 broad.mit.edu 37 4 85674913 85674913 + Silent SNP A A G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr4:85674913A>G uc003hpd.2 - 35 6084 c.5676T>C c.(5674-5676)CCT>CCC p.P1892P NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 1892 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) ACAGGAAGTCAGGGCTCATCC 0.488000 KIAA1430 57587 broad.mit.edu 37 4 186097014 186097014 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr4:186097014C>T uc003ixf.3 - 3 1393 c.1246G>A c.(1246-1248)GAT>AAT p.D416N KIAA1430_uc003ixg.2_Missense_Mutation_p.D416N NM_020827 NP_065878 Q9P2B7 K1430_HUMAN hypothetical protein LOC57587 416 Potential. 0 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165) GGGGGATGATCAGCCGATCTA 0.423000 KIF2A 3796 broad.mit.edu 37 5 61659532 61659532 + Missense_Mutation SNP C C G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr5:61659532C>G uc003jsy.3 + 14 1584 c.1273C>G c.(1273-1275)CAA>GAA p.Q425E KIF2A_uc003jsz.3_Missense_Mutation_p.Q425E|KIF2A_uc010iwp.2_Missense_Mutation_p.Q406E|KIF2A_uc003jsx.3_Missense_Mutation_p.Q405E|KIF2A_uc010iwq.2_Missense_Mutation_p.Q228E NM_004520 NP_004511 O00139 KIF2A_HUMAN kinesin heavy chain member 2 isoform 1 425 Kinesin-motor. blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding 0 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) AACATCCGGTCAAACATCTGC 0.333000 PCDHA11 56138 broad.mit.edu 37 5 140250587 140250587 + Silent SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr5:140250587G>A uc003lia.2 + 1 2757 c.1899G>A c.(1897-1899)ACG>ACA p.T633T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.T633T NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 633 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAAGCACAACGCGTGCCCTGG 0.662000 PCDHB14 56122 broad.mit.edu 37 5 140603470 140603470 + Silent SNP T T G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr5:140603470T>G uc003ljb.2 + 1 393 c.393T>G c.(391-393)CCT>CCG p.P131P PCDHB14_uc011dal.1_Intron NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 131 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATCACTCCCCTACATTTCTAG 0.418000 WWC1 23286 broad.mit.edu 37 5 167858361 167858361 + Nonsense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr5:167858361G>A uc003lzu.2 + 15 2285 c.2192G>A c.(2191-2193)TGG>TAG p.W731* WWC1_uc003lzv.2_Nonsense_Mutation_p.W731*|WWC1_uc011den.1_Nonsense_Mutation_p.W731*|WWC1_uc003lzw.2_Nonsense_Mutation_p.W530*|WWC1_uc010jjf.1_5'UTR NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 731 C2. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) GAGGTGTTCTGGGTATCCATG 0.562000 CAGE1 285782 broad.mit.edu 37 6 7373546 7373546 + Missense_Mutation SNP T T G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr6:7373546T>G uc003mxi.2 - 4 1819 c.1098A>C c.(1096-1098)AGA>AGC p.R366S CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.R257S|CAGE1_uc003mxk.1_Missense_Mutation_p.R257S NM_205864 NP_995586 Q8TC20 CAGE1_HUMAN cancer antigen 1 502 Potential. 0 Ovarian(93;0.0418) TCAGTTTCTGTCTTTCTTCCA 0.363000 ITPR3 3710 broad.mit.edu 37 6 33636823 33636823 + Missense_Mutation SNP G G C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr6:33636823G>C uc011drk.1 + 18 2298 c.2079G>C c.(2077-2079)TGG>TGC p.W693C NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 693 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 AGGAAGTGTGGCTCACGTGGA 0.592000 SMAP1 60682 broad.mit.edu 37 6 71562283 71562283 + Silent SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr6:71562283G>A uc003pfr.2 + 8 953 c.705G>A c.(703-705)ACG>ACA p.T235T SMAP1_uc003pfs.2_Silent_p.T208T|SMAP1_uc010kao.2_Silent_p.T208T|SMAP1_uc010kap.2_Silent_p.T225T NM_001044305 NP_001037770 Q8IYB5 SMAP1_HUMAN stromal membrane-associated GTPase-activating 235 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding 0 GGAACACAACGGTGCCACCCC 0.453000 MAP3K7 6885 broad.mit.edu 37 6 91269867 91269867 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr6:91269867C>T uc003pnz.1 - 5 572 c.410G>A c.(409-411)TGT>TAT p.C137Y MAP3K7_uc003poa.1_Missense_Mutation_p.C137Y|MAP3K7_uc003pob.1_Missense_Mutation_p.C137Y|MAP3K7_uc003poc.1_Missense_Mutation_p.C137Y NM_145331 NP_663304 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 137 Protein kinase. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1) 6 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) TCCTTGGGAACACTGTAAACA 0.443000 AIM1 202 broad.mit.edu 37 6 106991352 106991352 + Missense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr6:106991352G>A uc003prh.2 + 9 4182 c.3695G>A c.(3694-3696)TGT>TAT p.C1232Y AIM1_uc003pri.2_Missense_Mutation_p.C36Y NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1232 Beta/gamma crystallin 'Greek key' 5. sugar binding breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 9 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) GAAGGAAAATGTGTGGAACTA 0.393000 KIF25 3834 broad.mit.edu 37 6 168440804 168440804 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr6:168440804C>T uc003qwk.1 + 6 816 c.554C>T c.(553-555)GCG>GTG p.A185V KIF25_uc003qwl.1_Missense_Mutation_p.A185V NM_030615 NP_085118 Q9UIL4 KIF25_HUMAN kinesin family member 25 isoform 1 185 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(1)|pancreas(1) 2 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) CAGCTCAGGGCGAAGCACCCC 0.592000 THBS2 7058 broad.mit.edu 37 6 169626379 169626379 + Nonsense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr6:169626379G>A uc003qwt.2 - 17 2682 c.2434C>T c.(2434-2436)CGA>TGA p.R812* NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 812 TSP type-3 4. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CAATTGTCTCGTTCATTGAAG 0.463000 SP8 221833 broad.mit.edu 37 7 20824871 20824871 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr7:20824871C>T uc003suy.2 - 3 752 c.511G>A c.(511-513)GGG>AGG p.G171R SP8_uc003suz.2_Missense_Mutation_p.G189R NM_198956 NP_945194 Q8IXZ3 SP8_HUMAN Sp8 transcription factor isoform 2 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 CCCTGCAGCCCGTCCACAGAG 0.587000 ANLN 54443 broad.mit.edu 37 7 36489415 36489415 + Missense_Mutation SNP A A G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr7:36489415A>G uc003tff.2 + 23 3424 c.3220A>G c.(3220-3222)AGC>GGC p.S1074G ANLN_uc011kaz.1_Missense_Mutation_p.S986G|ANLN_uc003tfg.2_Missense_Mutation_p.S1037G|ANLN_uc010kxe.2_Missense_Mutation_p.S1036G NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 1074 PH.|Localization to the cleavage furrow. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding ovary(2)|skin(1) 3 GACTCTTGTCAGCCAATGCAG 0.403000 RBM28 55131 broad.mit.edu 37 7 127953233 127953233 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr7:127953233C>T uc003vmp.2 - 18 2255 c.2140G>A c.(2140-2142)GAG>AAG p.E714K RBM28_uc003vmo.2_Missense_Mutation_p.E256K|RBM28_uc011koj.1_Missense_Mutation_p.E573K NM_018077 NP_060547 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 714 mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding ovary(2) 2 CTCACCTGCTCGGACGATAAT 0.473000 DEFB135 613209 broad.mit.edu 37 8 11842018 11842018 + Silent SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr8:11842018C>T uc003wuw.1 + 2 153 c.153C>T c.(151-153)AAC>AAT p.N51N NM_001033017 NP_001028189 Q30KP9 DB135_HUMAN beta-defensin 135 precursor 51 defense response to bacterium extracellular region 0 GTCTAAAAAACGAACAATATC 0.383000 TRPA1 8989 broad.mit.edu 37 8 72977792 72977792 + Missense_Mutation SNP A A G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr8:72977792A>G uc003xza.2 - 4 621 c.446T>C c.(445-447)GTC>GCC p.V149A NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 149 Cytoplasmic (Potential).|ANK 3. integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) CTCAAGCAAGACCTAAAAAAA 0.294000 GNE 10020 broad.mit.edu 37 9 36222978 36222978 + Missense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr9:36222978G>A uc010mlh.2 - 9 1644 c.1429C>T c.(1429-1431)CGT>TGT p.R477C CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Intron|GNE_uc011lpl.1_Missense_Mutation_p.R367C|GNE_uc010mli.2_Missense_Mutation_p.R508C|GNE_uc010mlj.2_Missense_Mutation_p.R472C NM_005476 NP_005467 Q9Y223 GLCNE_HUMAN UDP-N-acetylglucosamine-2-epimerase/N- 477 UDP-N-acetylglucosamine 2-epimerase.|N-acetylmannosamine kinase. cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity 0 STAD - Stomach adenocarcinoma(86;0.228) GGATTTACACGGCCACCTGTG 0.468000 CNTNAP3 79937 broad.mit.edu 37 9 39178303 39178303 + Missense_Mutation SNP T T C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr9:39178303T>C uc004abi.2 - 5 832 c.593A>G c.(592-594)AAA>AGA p.K198R CNTNAP3_uc004abj.2_Missense_Mutation_p.K198R|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Missense_Mutation_p.K198R|CNTNAP3_uc011lqs.1_Missense_Mutation_p.K198R|CNTNAP3_uc004abl.1_Missense_Mutation_p.K110R NM_033655 NP_387504 Q9BZ76 CNTP3_HUMAN cell recognition molecule CASPR3 precursor 198 Extracellular (Potential).|Laminin G-like 1. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TAAAGGTTTTTTATCAAGTCT 0.323000 C9orf171 389799 broad.mit.edu 37 9 135374805 135374805 + Silent SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr9:135374805C>T uc004cbn.2 + 4 498 c.450C>T c.(448-450)CAC>CAT p.H150H C9orf171_uc004cbo.2_Silent_p.H114H NM_207417 NP_997300 Q6ZQR2 CI171_HUMAN hypothetical protein LOC389799 150 ovary(4)|large_intestine(1) 5 CCTGCCCCCACGAGCTGACCC 0.627000 TBC1D25 4943 broad.mit.edu 37 X 48418150 48418150 + Missense_Mutation SNP G G T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chrX:48418150G>T uc004dka.1 + 6 965 c.854G>T c.(853-855)CGC>CTC p.R285L TBC1D25_uc011mly.1_Missense_Mutation_p.R227L|TBC1D25_uc004dkb.1_Missense_Mutation_p.R31L|TBC1D25_uc011mlz.1_Missense_Mutation_p.R31L|TBC1D25_uc011mma.1_Missense_Mutation_p.R31L|TBC1D25_uc004dkc.1_Missense_Mutation_p.R31L|TBC1D25_uc011mmb.1_Missense_Mutation_p.R289L|TBC1D25_uc011mmc.1_Missense_Mutation_p.R31L|TBC1D25_uc011mmd.1_Missense_Mutation_p.R31L NM_002536 NP_002527 Q3MII6 TBC25_HUMAN TBC1 domain family, member 25 285 Rab-GAP TBC. intracellular Rab GTPase activator activity ovary(1) 1 GAATTCATCCGCAGCACGGTC 0.627000 TFDP3 51270 broad.mit.edu 37 X 132351883 132351883 + Silent SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chrX:132351883G>A uc004exb.1 - 1 494 c.405C>T c.(403-405)GGC>GGT p.G135G NM_016521 NP_057605 Q5H9I0 TFDP3_HUMAN transcription factor Dp family, member 3 135 Potential. transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) CGACCAGCTCGCCCACCACTT 0.552000 DGKA 1606 broad.mit.edu 37 12 56347514 56347515 + Frame_Shift_Ins INS - - C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr12:56347513_56347514A>AC uc001sij.3 + 23 2433_2434 c.2169_2170A>AC c.(2167-2172)ccacccfs p.P723fs DGKA_uc001sik.3_Frame_Shift_Ins_p.P723fs|DGKA_uc001sil.3_Frame_Shift_Ins_p.P723fs|DGKA_uc001sim.3_Frame_Shift_Ins_p.P723fs|DGKA_uc001sin.3_Frame_Shift_Ins_p.P723fs|DGKA_uc009zof.3_Frame_Shift_Ins_p.P369fs|DGKA_uc001sio.3_Frame_Shift_Ins_p.P465fs NM_001345 NP_963848 P23743 DGKA_HUMAN Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA. 723 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) TCATGGGCCCACCCCCCCGCTC 0.579 MYF5 4617 broad.mit.edu 37 12 81112803 81112803 + Frame_Shift_Del DEL T T - TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 g.chr12:81112802_81112802GT>G uc001szg.2 + 2 875 c.740_740GT>G c.(739-741)agtfs p.S247fs NM_005593 NP_005584 P13349 MYF5_HUMAN Homo sapiens myogenic factor 5 (MYF5), mRNA. 247 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 GGGGCTTCTAGTTCCAGGCTT 0.488