Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut TPTE 7179 broad.mit.edu 37 21 10910382 10910382 + Silent SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr21:10910382T>C ENST00000298232.7 - 21 1687 c.1320A>G c.(1318-1320)acA>acG p.T440T TPTE_ENST00000342420.5_Silent_p.T420T|TPTE_ENST00000361285.4_Silent_p.T458T|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 458 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTTGTCTGTTGTAATGTTAT 0.338000 6 107 0 0 0.000978159 0 0 CSH2 1443 broad.mit.edu 37 17 61949685 61949685 + Splice_Site SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:61949685T>A ENST00000392886.2 - 5 608 c.e5-2 CSH2_ENST00000345366.7_Splice_Site|CSH2_ENST00000560142.1_Splice_Site|CSH2_ENST00000336844.5_3'UTR NM_020991.3 NP_066271.1 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding endometrium(2)|large_intestine(1)|lung(3) 6 TTCCAGCCTCTGCAAAGTGAA 0.547000 42 61 0 0 0.00361006 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629194 1629194 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:1629194C>A ENST00000399685.1 - 1 499 c.422G>T c.(421-423)tGt>tTt p.C141F NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 141 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 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;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) GGATGACCCACAGCCTGAGGA 0.632000 97 150 8.75711e-35 3.34109e-34 0.00361006 1 0 PRKACB 5567 broad.mit.edu 37 1 84668432 84668432 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:84668432C>T ENST00000370689.2 + 8 973 c.709C>T c.(709-711)Ccc>Tcc p.P237S PRKACB_ENST00000394838.2_Missense_Mutation_p.P244S|PRKACB_ENST00000394839.2_Missense_Mutation_p.P207S|PRKACB_ENST00000370682.3_Missense_Mutation_p.P241S|PRKACB_ENST00000370688.3_Missense_Mutation_p.P237S|PRKACB_ENST00000370685.3_Missense_Mutation_p.P284S|PRKACB_ENST00000370680.1_Missense_Mutation_p.P243S NM_001242862.1|NM_002731.2 NP_001229791.1|NP_002722.1 P22694 KAPCB_HUMAN protein kinase, cAMP-dependent, catalytic, beta 237 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1) 16 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) AGCTGGCTATCCCCCATTCTT 0.373000 39 52 0 0 0.00170553 0 0 FAM136A 84908 broad.mit.edu 37 2 70527991 70527991 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:70527991C>T ENST00000037869.3 - 2 287 c.209G>A c.(208-210)aGt>aAt p.S70N FAM136A_ENST00000450256.1_3'UTR|FAM136A_ENST00000430566.1_Missense_Mutation_p.S177N NM_032822.2 NP_116211.2 Q96C01 F136A_HUMAN family with sequence similarity 136, member A 70 mitochondrion protein binding breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 6 CTCCAGCTCACTGGTGACCAA 0.522000 65 145 0 0 0.00361006 0 0 PASD1 139135 broad.mit.edu 37 X 150840134 150840134 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:150840134G>T ENST00000370357.4 + 13 1565 c.1320G>T c.(1318-1320)ggG>ggT p.G440G NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 440 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) AACACGCTGGGCAAGTGAAGC 0.493000 64 79 1.88225e-35 7.20428e-35 0.00361006 1 0 OR6K2 81448 broad.mit.edu 37 1 158669657 158669657 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:158669657G>A ENST00000359610.2 - 1 829 c.786C>T c.(784-786)cgC>cgT p.R262R NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) TGGCAGAGAAGCGTAGGTACA 0.478000 16 32 0 0 0.00316338 0 0 OR4A5 81318 broad.mit.edu 37 11 51411675 51411675 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:51411675T>A ENST00000319760.6 - 1 773 c.721A>T c.(721-723)Agt>Tgt p.S241C NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S241C(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) ACAACGGTACTGCCGGAGCTG 0.398000 18 25 0 0 0.00074312 0 0 NLRP14 338323 broad.mit.edu 37 11 7068026 7068026 + Nonsense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:7068026G>T ENST00000299481.4 + 5 2432 c.2086G>T c.(2086-2088)Gaa>Taa p.E696* NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 696 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) CCTGCATCATGAACTAAGGCA 0.373000 36 59 1.36161e-19 4.66061e-19 0.00428921 1 0 ABCA4 24 broad.mit.edu 37 1 94485286 94485286 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:94485286G>A ENST00000370225.3 - 36 5134 c.5048C>T c.(5047-5049)gCc>gTc p.A1683V NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1683 Missing (in STGD1; highly reduced ATP- binding capacity). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances p.A1683V(1) NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CACGCAGATGGCAACCACAGC 0.522000 7 21 0 0 0.000274275 0 0 SERINC5 256987 broad.mit.edu 37 5 79498804 79498804 + Silent SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:79498804G>C ENST00000507668.2 - 2 246 c.96C>G c.(94-96)tcC>tcG p.S32S SERINC5_ENST00000513907.1_5'UTR|SERINC5_ENST00000509193.1_Silent_p.S32S|SERINC5_ENST00000512721.1_Silent_p.S32S|SERINC5_ENST00000512972.2_Silent_p.S32S NM_001174071.1|NM_178276.5 NP_001167542.1|NP_840060.1 Q86VE9 SERC5_HUMAN serine incorporator 5 32 phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity endoplasmic reticulum membrane|integral to membrane endometrium(3)|kidney(1)|lung(3)|ovary(1) 8 Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34) GGGTGCTGAGGGACTGCCGAA 0.552000 7 5 0 0 0.00198382 0 0 OR1Q1 158131 broad.mit.edu 37 9 125377755 125377755 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:125377755G>A ENST00000297913.2 + 1 808 c.739G>A c.(739-741)Gtg>Atg p.V247M RP11-64P14.7_ENST00000431442.1_RNA NM_012364.1 NP_036496.1 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, member 1 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 CCACCTCACTGTGGTGGCCAT 0.547000 44 72 0 0 0.00361006 0 0 KARS 3735 broad.mit.edu 37 16 75675607 75675607 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:75675607C>A ENST00000319410.5 - 3 282 c.161G>T c.(160-162)cGc>cTc p.R54L KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.R26L NM_001130089.1 NP_001123561.1 Q15046 SYK_HUMAN lysyl-tRNA synthetase 26 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) AGCTTTCAGGCGTCTCTTCAG 0.478000 30 26 7.01153e-11 2.17612e-10 0.00127121 1 0 SI 6476 broad.mit.edu 37 3 164704993 164704993 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:164704993G>A ENST00000264382.3 - 45 5192 c.5130C>T c.(5128-5130)ctC>ctT p.L1710L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1710 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CAGCAACAATGAGCTTCATGT 0.348000 HNSCC(35;0.089) 51 16 0 0 0.00361006 0 0 PAPPA2 60676 broad.mit.edu 37 1 176738746 176738746 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:176738746G>A ENST00000367662.3 + 16 5491 c.4327G>A c.(4327-4329)Gaa>Aaa p.E1443K NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1443 Sushi 1. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.E1443K(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TTTCTAGAAGGAAATTCTGCT 0.453000 13 39 0 0 0.00136819 0 0 DOCK9 23348 broad.mit.edu 37 13 99540717 99540717 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr13:99540717A>T ENST00000376460.1 - 17 1954 c.1874T>A c.(1873-1875)gTg>gAg p.V625E DOCK9_ENST00000339416.2_Missense_Mutation_p.V626E|DOCK9_ENST00000448493.2_Missense_Mutation_p.V637E|DOCK9_ENST00000442173.1_Missense_Mutation_p.V625E NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 626 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TATGCAGGGCACAAATTCCTC 0.383000 107 37 0 0 0.00361006 0 0 MLPH 79083 broad.mit.edu 37 2 238449173 238449173 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:238449173G>T ENST00000264605.3 + 10 1581 c.1287G>T c.(1285-1287)ccG>ccT p.P429P MLPH_ENST00000445024.2_Silent_p.P429P|MLPH_ENST00000409373.1_Silent_p.P361P|MLPH_ENST00000338530.4_Silent_p.P401P|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000410032.1_Silent_p.P286P NM_024101.5 NP_077006.1 Q9BV36 MELPH_HUMAN melanophilin 429 metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203) Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316) AGGCGGACCCGGAGGTAAGAC 0.637000 13 9 5.50884e-06 1.50675e-05 0.00136819 1 0 ZBTB16 7704 broad.mit.edu 37 11 114027108 114027108 + Silent SNP C C A rs141621748 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:114027108C>A ENST00000335953.4 + 3 1698 c.1318C>A c.(1318-1320)Cgg>Agg p.R440R ZBTB16_ENST00000392996.2_Silent_p.R440R NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 440 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) CTGCGGGAAGCGGTTCCTGGA 0.552000 18 47 0.000958276 0.00249027 0.000958276 1 0 NOV 4856 broad.mit.edu 37 8 120430512 120430512 + Silent SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:120430512A>T ENST00000259526.3 + 3 752 c.525A>T c.(523-525)ccA>ccT p.P175P NM_002514.3 NP_002505.1 P48745 NOV_HUMAN nephroblastoma overexpressed 175 regulation of cell growth growth factor activity|insulin-like growth factor binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3) 21 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCTGTGGCCCAGATGAGGAGG 0.502000 50 78 0 0 0.00361006 0 0 FUT9 10690 broad.mit.edu 37 6 96651430 96651430 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:96651430G>C ENST00000302103.5 + 3 725 c.399G>C c.(397-399)tgG>tgC p.W133C NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 133 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) AATGGATTTGGATGAATTTGG 0.458000 15 25 0 0 0.00244969 0 0 JMJD1C 221037 broad.mit.edu 37 10 64944479 64944479 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:64944479T>A ENST00000399262.2 - 21 7068 c.6850A>T c.(6850-6852)Agt>Tgt p.S2284C JMJD1C_ENST00000402544.1_Missense_Mutation_p.S2047C|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S2102C NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 2284 JmjC. blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) AATGGCAGACTTTTTAAAAGA 0.333000 16 26 0 0 0.00400662 0 0 OR4C3 256144 broad.mit.edu 37 11 48346810 48346810 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:48346810C>A ENST00000319856.4 + 1 339 c.318C>A c.(316-318)ctC>ctA p.L106L NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 CTCCTAAACTCATTGCTGACT 0.463000 31 241 4.16155e-14 1.34744e-13 0.00195071 1 0 VEPH1 79674 broad.mit.edu 37 3 157146252 157146252 + Silent SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:157146252T>C ENST00000362010.2 - 5 862 c.555A>G c.(553-555)ttA>ttG p.L185L VEPH1_ENST00000543418.1_Silent_p.L185L|VEPH1_ENST00000392833.2_Silent_p.L185L|VEPH1_ENST00000392832.2_Silent_p.L185L NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 185 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) ACACAGCAGGTAACACTCTCA 0.428000 40 11 0 0 0.00222228 0 0 CAB39L 81617 broad.mit.edu 37 13 49957001 49957001 + Nonsense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr13:49957001C>A ENST00000355854.4 - 2 543 c.46G>T c.(46-48)Gaa>Taa p.E16* CAB39L_ENST00000410043.1_Nonsense_Mutation_p.E16*|CAB39L_ENST00000476943.1_5'UTR|CAB39L_ENST00000347776.5_Nonsense_Mutation_p.E16*|CAB39L_ENST00000409308.1_Nonsense_Mutation_p.E16* NM_030925.2 NP_112187.2 Q9H9S4 CB39L_HUMAN calcium binding protein 39-like 16 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol protein binding p.E16*(1) breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1) 12 Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226) TTCACAATTTCTGCTGGATTT 0.308000 60 21 6.20203e-27 2.27218e-26 0.00361006 1 0 SI 6476 broad.mit.edu 37 3 164766984 164766984 + Missense_Mutation SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:164766984A>G ENST00000264382.3 - 15 1708 c.1646T>C c.(1645-1647)gTg>gCg p.V549A NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 549 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CCAGTTCTGCACAGCATCCAT 0.338000 HNSCC(35;0.089) 14 27 0 0 0.00316338 0 0 ERCC6L2 375748 broad.mit.edu 37 9 98678717 98678717 + Splice_Site SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:98678717G>A ENST00000288985.7 + 6 1496 c.e6+1 ERCC6L2_ENST00000466840.1_Splice_Site|ERCC6L2_ENST00000437817.1_Splice_Site NM_001010895.2 NP_001010895.1 Q5T890 RAD26_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding GGAAGACCGGGTAAGAACCGC 0.383000 26 37 0 0 0.000878237 0 0 GRM1 2911 broad.mit.edu 37 6 146755774 146755774 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:146755774C>T ENST00000361719.2 + 9 3897 c.3427C>T c.(3427-3429)Cct>Tct p.P1143S GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P1143S|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1143 Ser-rich. synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGATGATTCGCCTGCGCTGAC 0.662000 41 45 0 0 0.00148497 0 0 NKRF 55922 broad.mit.edu 37 X 118723982 118723982 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:118723982A>T ENST00000371527.1 - 2 2058 c.1406T>A c.(1405-1407)gTc>gAc p.V469D NKRF_ENST00000304449.5_Missense_Mutation_p.V469D|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.V484D NM_001173488.1 NP_001166959.1 O15226 NKRF_HUMAN NFKB repressing factor 469 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 30 CCTTTCATAGACATACTCAAC 0.403000 52 92 0 0 0.00361006 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44284609 44284609 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr18:44284609C>A ENST00000315087.7 - 2 810 c.150G>T c.(148-150)gaG>gaT p.E50D ST8SIA5_ENST00000536490.1_Intron|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E86D NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 50 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 CAAAAGGCCCCTCATAAAATT 0.512000 7 241 0.00307968 0.00791729 0.00307968 1 0 OR1B1 347169 broad.mit.edu 37 9 125391641 125391641 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:125391641G>A ENST00000304833.3 - 1 211 c.174C>T c.(172-174)caC>caT p.H58H RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA NM_001004450.1 NP_001004450.1 Q8NGR6 OR1B1_HUMAN olfactory receptor, family 1, subfamily B, member 1 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1) 16 ACATGGGTGAGTGCAGTCTGG 0.522000 20 37 0 0 0.000958276 0 0 SLC4A11 83959 broad.mit.edu 37 20 3210334 3210334 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr20:3210334G>A ENST00000380059.3 - 14 1808 c.1707C>T c.(1705-1707)gcC>gcT p.A569A SLC4A11_ENST00000380056.3_Silent_p.A542A|SLC4A11_ENST00000539553.1_Silent_p.A526A|SLC4A11_ENST00000474451.1_5'UTR NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 542 Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 CGTTGAGGCTGGCGCCGAGGC 0.612000 26 26 0 0 0.00395357 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20370044 20370044 + RNA SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:20370044G>A ENST00000593655.1 - 0 199 AGGATGATGCGGAAAAACTTC 0.423000 20 13 0 0 0.00121646 0 0 ART4 420 broad.mit.edu 37 12 14996007 14996007 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:14996007G>T ENST00000228936.4 - 1 422 c.41C>A c.(40-42)cCa>cAa p.P14Q RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron NM_021071.2 NP_066549.2 Q93070 NAR4_HUMAN ADP-ribosyltransferase 4 14 arginine metabolic process|protein ADP-ribosylation anchored to membrane|plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3) 15 TACAGTAGTTGGGAGAAGAAT 0.507000 74 51 2.10938e-32 7.99695e-32 0.00361006 1 0 AOX1 316 broad.mit.edu 37 2 201507394 201507394 + Missense_Mutation SNP G G A rs139407288 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:201507394G>A ENST00000374700.2 + 25 2958 c.2717G>A c.(2716-2718)cGg>cAg p.R906Q AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 906 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CTCCGCTGCCGGGGTTGGGCA 0.473000 22 37 0 0 0.00188189 0 0 HHIPL1 84439 broad.mit.edu 37 14 100119179 100119179 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:100119179G>A ENST00000330710.5 + 2 972 c.874G>A c.(874-876)Gag>Aag p.E292K HHIPL1_ENST00000357223.2_Missense_Mutation_p.E292K NM_001127258.1 NP_001120730.1 Q96JK4 HIPL1_HUMAN HHIP-like 1 292 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) CGAGGATGACGAGAACGCCGT 0.607000 12 9 0 0 0.00136819 0 0 NEDD4 4734 broad.mit.edu 37 15 56130375 56130375 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:56130375G>C ENST00000508342.1 - 19 3687 c.3388C>G c.(3388-3390)Cat>Gat p.H1130D NEDD4_ENST00000338963.2_Missense_Mutation_p.H1058D|NEDD4_ENST00000506154.1_Missense_Mutation_p.H1114D|NEDD4_ENST00000435532.3_Missense_Mutation_p.H711D P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 1130 HECT. development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) TCATGTTGATGTGTCTAAAAT 0.244000 2 9 0 0 6.4e-05 0 0 ZNF641 121274 broad.mit.edu 37 12 48738456 48738456 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:48738456T>C ENST00000544117.2 - 5 1196 c.488A>G c.(487-489)gAa>gGa p.E163G ZNF641_ENST00000448928.3_Missense_Mutation_p.E140G|ZNF641_ENST00000547026.1_Missense_Mutation_p.E149G|ZNF641_ENST00000301042.3_Missense_Mutation_p.E163G Q96N77 ZN641_HUMAN zinc finger protein 641 163 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 TTCTCCTCCTTCTAGTTGAGA 0.438000 68 13 0 0 0.00361006 0 0 MID2 11043 broad.mit.edu 37 X 107097876 107097876 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:107097876G>C ENST00000262843.6 + 3 1306 c.758G>C c.(757-759)cGc>cCc p.R253P MID2_ENST00000443968.2_Missense_Mutation_p.R253P NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 253 centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 CTGGTTAAGCGCAACAGCGAA 0.448000 33 47 0 0 0.00327116 0 0 OTOA 146183 broad.mit.edu 37 16 21742247 21742247 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:21742247C>T ENST00000388958.3 + 20 2298 c.2297C>T c.(2296-2298)aCa>aTa p.T766I OTOA_ENST00000388957.3_Missense_Mutation_p.T442I|OTOA_ENST00000388956.4_Missense_Mutation_p.T687I|OTOA_ENST00000286149.4_Missense_Mutation_p.T780I NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 780 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) TCTATAGCCACAAAGGTAATG 0.453000 24 27 0 0 0.000720815 0 0 MGMT 4255 broad.mit.edu 37 10 131557583 131557583 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:131557583G>C ENST00000306010.7 + 4 517 c.485G>C c.(484-486)gGa>gCa p.G162A NM_002412.3 NP_002403.2 B4DEE8 B4DEE8_HUMAN O-6-methylguanine-DNA methyltransferase 162 breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 10 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) CGAGCAGTGGGAGGAGCAATG 0.562000 Direct reversal of damage 23 40 0 0 0.00332997 0 0 MAP7D3 79649 broad.mit.edu 37 X 135323385 135323385 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:135323385C>G ENST00000316077.9 - 5 689 c.469G>C c.(469-471)Gat>Cat p.D157H MAP7D3_ENST00000370661.1_Missense_Mutation_p.D157H|MAP7D3_ENST00000370663.5_Missense_Mutation_p.D139H NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 157 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) TGATAATCATCAGCAAGTCTC 0.328000 23 36 0 0 0.000720815 0 0 COLGALT1 79709 broad.mit.edu 37 19 17679367 17679367 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:17679367G>T ENST00000252599.4 + 5 794 c.674G>T c.(673-675)cGc>cTc p.R225L COLGALT1_ENST00000601354.1_3'UTR NM_024656.2 NP_078932.2 collagen beta(1-O)galactosyltransferase 1 AAGCGAGACCGCCGGGGCTGC 0.617000 25 43 1.77063e-15 5.90868e-15 0.000878237 1 0 MUSK 4593 broad.mit.edu 37 9 113459720 113459720 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:113459720C>T ENST00000416899.2 + 5 728 c.602C>T c.(601-603)tCc>tTc p.S201F MUSK_ENST00000374439.1_Missense_Mutation_p.S83F|MUSK_ENST00000374440.3_Missense_Mutation_p.S83F|MUSK_ENST00000374448.4_Missense_Mutation_p.S201F|MUSK_ENST00000189978.5_Missense_Mutation_p.S201F O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 201 Ig-like 2. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 ACAGCATATTCCAAAGTGGTG 0.507000 46 42 0 0 0.0025221 0 0 PER1 5187 broad.mit.edu 37 17 8044497 8044497 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:8044497G>A ENST00000317276.4 - 23 3999 c.3762C>T c.(3760-3762)gcC>gcT p.A1254A PER1_ENST00000581082.1_Silent_p.A1231A NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 1254 CRY binding domain (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CCCCGCCTTGGGCCTCCTCGC 0.637000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 118 56 0 0 0.00361006 0 0 SLC4A1AP 22950 broad.mit.edu 37 2 27898488 27898488 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:27898488G>A ENST00000326019.6 + 6 1717 c.1435G>A c.(1435-1437)Gag>Aag p.E479K NM_018158.2 NP_060628.2 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), member 1, adaptor protein 479 cytoplasm|nucleus double-stranded RNA binding|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.155) TGGCCTGATTGAGAAGAAGCG 0.413000 12 36 0 0 0.00185496 0 0 CIB4 130106 broad.mit.edu 37 2 26852280 26852280 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:26852280G>T ENST00000288861.4 - 3 237 c.184C>A c.(184-186)Cgg>Agg p.R62R NM_001029881.1 NP_001025052.1 A0PJX0 CIB4_HUMAN calcium and integrin binding family member 4 62 EF-hand 1. calcium ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGACTCACCCGCAGAGCTGGC 0.622000 4 9 0.000602214 0.00157179 0.000602214 1 0 PABPC5 140886 broad.mit.edu 37 X 90690670 90690670 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:90690670G>T ENST00000312600.3 + 2 308 c.94G>T c.(94-96)Gac>Tac p.D32Y PABPC5_ENST00000373105.1_Intron NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 32 RRM 1. cytoplasm nucleotide binding|RNA binding central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 TGTCACCGAGGACATGCTCTA 0.567000 13 28 4.36969e-10 1.34573e-09 0.00185496 1 0 ACKR3 57007 broad.mit.edu 37 2 237489774 237489774 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:237489774C>T ENST00000272928.3 + 2 976 c.666C>T c.(664-666)gcC>gcT p.A222A NM_020311.2 NP_064707.1 atypical chemokine receptor 3 TGGGCTTTGCCGTTCCCTTCT 0.567000 52 53 0 0 0.00361006 0 0 MAPRE2 10982 broad.mit.edu 37 18 32706962 32706962 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr18:32706962C>T ENST00000436190.2 + 6 899 c.625C>T c.(625-627)Ccc>Tcc p.P209S MAPRE2_ENST00000300249.5_Missense_Mutation_p.P221S|MAPRE2_ENST00000589699.1_Missense_Mutation_p.P178S|MAPRE2_ENST00000413393.1_Missense_Mutation_p.P178S|MAPRE2_ENST00000538170.2_Missense_Mutation_p.P168S|MAPRE2_ENST00000588910.1_Missense_Mutation_p.P221S NM_001143827.2 NP_001137299.1 Q15555 MARE2_HUMAN microtubule-associated protein, RP/EB family, member 2 221 DCTN1-binding. cell division|cell proliferation|mitosis|signal transduction cytoplasm|microtubule microtubule binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 ACCTTCTCGACCCTCATCAGC 0.418000 66 33 0 0 0.00361006 0 0 DSCR9 257203 broad.mit.edu 37 21 38593591 38593591 + RNA SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr21:38593591C>A ENST00000454482.2 + 0 1198 NR_026719.2 GATCCACCTCCCGCCAGGGTG 0.682000 18 31 3.32936e-07 9.38488e-07 0.00074312 1 0 MYOM1 8736 broad.mit.edu 37 18 3129467 3129467 + Nonsense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr18:3129467C>A ENST00000356443.4 - 18 2890 c.2557G>T c.(2557-2559)Gga>Tga p.G853* MYOM1_ENST00000261606.7_Intron|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000400569.3_Nonsense_Mutation_p.G853* NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 853 striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GCGGTTAGTCCACCAGGCTCA 0.567000 OREG0024838 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 64 8.04919e-23 2.84452e-22 0.00361006 1 0 DCHS2 54798 broad.mit.edu 37 4 155161859 155161859 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:155161859G>T ENST00000357232.3 - 23 5823 c.5824C>A c.(5824-5826)Cag>Aag p.Q1942K NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1942 Cadherin 17. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CCAGTGTTCTGATCAATAGCA 0.383000 26 24 7.4402e-23 2.63709e-22 0.00395357 1 0 KIF19 124602 broad.mit.edu 37 17 72348368 72348368 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:72348368G>T ENST00000389916.4 + 14 2007 c.1869G>T c.(1867-1869)ctG>ctT p.L623L NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 623 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 ACTACAACCTGGCCGTCCCGC 0.687000 9 30 3.09899e-07 8.75609e-07 0.000274275 1 0 LPPR3 79948 broad.mit.edu 37 19 813188 813188 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:813188G>A ENST00000359894.2 - 7 1686 c.1623C>T c.(1621-1623)gcC>gcT p.A541A LPPR3_ENST00000520876.3_Silent_p.A513A NM_024888.2 NP_079164.1 Q6T4P5 LPPR3_HUMAN 513 integral to membrane phosphatidate phosphatase activity CGCGCACCCCGGCGCCGCTTT 0.746000 8 9 0 0 0.000274275 0 0 GPR45 11250 broad.mit.edu 37 2 105858978 105858978 + Silent SNP G G A rs141451236 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:105858978G>A ENST00000258456.1 + 1 779 c.663G>A c.(661-663)acG>acA p.T221T NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 221 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 TCCTCAACACGGTCCGCAAGA 0.677000 29 56 0 0 0.00106085 0 0 LCE2B 26239 broad.mit.edu 37 1 152659536 152659536 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:152659536C>T ENST00000368780.3 + 2 271 c.217C>T c.(217-219)Ctg>Ttg p.L73L LCE2B_ENST00000417924.2_Silent_p.L73L NM_014357.4 NP_055172.1 O14633 LCE2B_HUMAN late cornified envelope 2B 73 Cys-rich. keratinization endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 11 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGGCTGCTGCCTGAGCCACCA 0.662000 102 119 0 0 0.00361006 0 0 TRIM39 56658 broad.mit.edu 37 6 30297214 30297214 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:30297214C>T ENST00000376659.5 + 3 718 c.120C>T c.(118-120)gtC>gtT p.V40V TRIM39_ENST00000396551.3_Silent_p.V40V|TRIM39_ENST00000396547.1_Silent_p.V40V|TRIM39_ENST00000376656.4_Silent_p.V40V|TRIM39_ENST00000540416.1_Silent_p.V40V|TRIM39_ENST00000396548.1_Silent_p.V40V NM_172016.2 NP_742013.1 tripartite motif containing 39 ovary(3) 3 AGGAACCTGTCATCATTGAGT 0.562000 141 114 0 0 0.00361006 0 0 ACOT4 122970 broad.mit.edu 37 14 74060510 74060510 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:74060510C>T ENST00000326303.4 + 2 816 c.562C>T c.(562-564)Cta>Tta p.L188L NM_152331.3 NP_689544.3 Q8N9L9 ACOT4_HUMAN acyl-CoA thioesterase 4 188 ALAY -> DLQS (in Ref. 1; BAC04313). acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process peroxisome carboxylesterase activity|palmitoyl-CoA hydrolase activity endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(234;0.00331) CACGTTGGCTCTAGCTTATTA 0.493000 49 16 0 0 0.00361006 0 0 ELTD1 64123 broad.mit.edu 37 1 79403499 79403499 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:79403499C>A ENST00000370742.3 - 6 816 c.753G>T c.(751-753)acG>acT p.T251T NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 251 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TACCTATATCCGTTGAATTTG 0.383000 34 75 2.20474e-14 7.17737e-14 0.00375469 1 0 OR14C36 127066 broad.mit.edu 37 1 248512790 248512790 + Silent SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:248512790C>G ENST00000317861.1 + 1 714 c.714C>G c.(712-714)acC>acG p.T238T NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 238 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 CCTTTTCCACCTGCATCCCTC 0.522000 34 48 0 0 0.00375469 0 0 CUBN 8029 broad.mit.edu 37 10 17165686 17165686 + Silent SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:17165686A>T ENST00000377833.4 - 5 455 c.390T>A c.(388-390)acT>acA p.T130T CUBN_ENST00000377823.1_Silent_p.T130T NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 130 cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTTTGTCAACAGTCTGAAACA 0.443000 6 5 0 0 0.00307968 0 0 SLITRK2 84631 broad.mit.edu 37 X 144906246 144906246 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:144906246G>T ENST00000370490.1 + 1 6558 c.2303G>T c.(2302-2304)aGc>aTc p.S768I SLITRK2_ENST00000428560.2_Missense_Mutation_p.S768I|SLITRK2_ENST00000447897.2_Missense_Mutation_p.S768I|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S768I|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S768I Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 768 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) GAACTTCCCAGCGCAGGCCTA 0.463000 77 132 3.4779e-39 1.34404e-38 0.00361006 1 0 UGT2A1 10941 broad.mit.edu 37 4 70513215 70513215 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:70513215C>T ENST00000503640.1 - 1 203 c.148G>A c.(148-150)Gtg>Atg p.V50M UGT2A1_ENST00000514019.1_Missense_Mutation_p.V50M|UGT2A1_ENST00000512704.1_Missense_Mutation_p.V50M|UGT2A1_ENST00000286604.4_Missense_Mutation_p.V50M NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 50 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 AGGACAGTCACATTATGCTCC 0.393000 17 24 0 0 0.000566183 0 0 DCDC1 341019 broad.mit.edu 37 11 31086589 31086589 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:31086589G>T ENST00000597505.1 - 17 2409 c.2410C>A c.(2410-2412)Cat>Aat p.H804N DCDC1_ENST00000437348.1_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TTTCTGCCATGTTCCTGATGA 0.423000 17 29 4.35082e-09 1.30634e-08 0.00152264 1 0 TP53 7157 broad.mit.edu 37 17 7574017 7574017 + Missense_Mutation SNP C C A rs121912664 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:7574017C>A ENST00000269305.4 - 10 1199 c.1010G>T c.(1009-1011)cGc>cTc p.R337L TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337L|TP53_ENST00000420246.2_3'UTR NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 337 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R337L(15)|p.0?(8)|p.R337H(4)|p.I332fs*5(1)|p.?(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 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) CATCTCGAAGCGCTCACGCCC 0.527000 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 Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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) 20 11 1.9806e-07 5.64942e-07 0.00229938 1 0 PRAMEF2 65122 broad.mit.edu 37 1 12919600 12919600 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:12919600G>C ENST00000240189.2 + 3 427 c.340G>C c.(340-342)Gcc>Ccc p.A114P NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 114 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAATTTCTGGGCCAGATGGCC 0.557000 149 238 0 0 0.00361006 0 0 SLC16A7 9194 broad.mit.edu 37 12 60168919 60168919 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:60168919G>T ENST00000261187.4 + 4 1007 c.843G>T c.(841-843)tcG>tcT p.S281S SLC16A7_ENST00000552432.1_Silent_p.S281S|SLC16A7_ENST00000547379.1_Silent_p.S281S|SLC16A7_ENST00000543448.1_Silent_p.S182S|SLC16A7_ENST00000552024.1_Silent_p.S281S NM_001270622.1|NM_001270623.1|NM_004731.3 NP_001257551.1|NP_001257552.1|NP_004722.2 O60669 MOT2_HUMAN solute carrier family 16 (monocarboxylate transporter), member 7 281 integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) ATGAGTACTCGGCAGCTTTTC 0.383000 78 16 9.63364e-24 3.45542e-23 0.00361006 1 0 MS4A14 84689 broad.mit.edu 37 11 60183525 60183525 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:60183525T>A ENST00000300187.6 + 5 1361 c.1084T>A c.(1084-1086)Tcc>Acc p.S362T MS4A14_ENST00000531783.1_Missense_Mutation_p.S395T|MS4A14_ENST00000395005.2_Missense_Mutation_p.S345T|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Missense_Mutation_p.S250T NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 362 integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 AGGcatactatcccaagacac 0.448000 14 14 0 0 0.00244969 0 0 MYO7A 4647 broad.mit.edu 37 11 76870542 76870542 + Silent SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:76870542G>C ENST00000409709.3 + 10 1325 c.1053G>C c.(1051-1053)tcG>tcC p.S351S MYO7A_ENST00000458637.2_Silent_p.S351S|MYO7A_ENST00000409893.1_Silent_p.S351S|MYO7A_ENST00000409619.2_Silent_p.S340S NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 351 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TCTCCCCATCGCTGGCCACAG 0.587000 33 42 0 0 0.000953801 0 0 UNC13A 23025 broad.mit.edu 37 19 17766748 17766748 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:17766748G>T ENST00000428389.2 - 11 1490 c.1491C>A c.(1489-1491)gaC>gaA p.D497E UNC13A_ENST00000252773.7_Missense_Mutation_p.D409E|UNC13A_ENST00000551649.1_Missense_Mutation_p.D409E|UNC13A_ENST00000552293.1_Missense_Mutation_p.D409E|UNC13A_ENST00000550896.1_Missense_Mutation_p.D409E|UNC13A_ENST00000519716.2_Missense_Mutation_p.D409E Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 409 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 CAGGCACCTTGTCGGGCGTGG 0.697000 5 16 1.23904e-05 3.37357e-05 0.000602214 1 0 SLC6A11 6538 broad.mit.edu 37 3 10858101 10858101 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:10858101G>C ENST00000254488.2 + 1 217 c.151G>C c.(151-153)Ggc>Cgc p.G51R SLC6A11_ENST00000454147.1_Missense_Mutation_p.G51R NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 51 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) CCACGAGCGCGGCCACTGGAA 0.721000 3 4 0 0 6.4e-05 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72054795 72054795 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:72054795C>T ENST00000555818.1 + 2 554 c.206C>T c.(205-207)cCc>cTc p.P69L SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P69L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P69L NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 69 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ACCTCAACCCCCGGAGTCCCA 0.507000 48 20 0 0 0.00361006 0 0 INTS7 25896 broad.mit.edu 37 1 212180752 212180752 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:212180752G>A ENST00000366994.3 - 6 700 c.596C>T c.(595-597)cCc>cTc p.P199L INTS7_ENST00000366992.3_Missense_Mutation_p.P199L|INTS7_ENST00000366993.3_Missense_Mutation_p.P199L|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Missense_Mutation_p.P150L NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 199 snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) CTGTAGAATGGGTATCAATTT 0.403000 6 26 0 0 0.00116845 0 0 KIF1A 547 broad.mit.edu 37 2 241702653 241702653 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:241702653C>A ENST00000498729.2 - 21 2125 c.1879G>T c.(1879-1881)Gac>Tac p.D627Y KIF1A_ENST00000320389.7_Missense_Mutation_p.D618Y NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 618 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) AAGGCCCAGTCCACAGGCTCA 0.652000 9 18 5.4927e-09 1.62476e-08 0.000274275 1 0 IFT57 55081 broad.mit.edu 37 3 107938307 107938307 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:107938307C>A ENST00000264538.3 - 2 572 c.325G>T c.(325-327)Gat>Tat p.D109Y NM_018010.3 NP_060480.1 Q9NWB7 IFT57_HUMAN intraflagellar transport 57 homolog (Chlamydomonas) 109 activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cilium|microtubule basal body DNA binding|protein binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 14 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) TTAGGGTCATCATATTCTTGA 0.408000 19 11 6.94344e-10 2.12743e-09 0.00074312 1 0 UNC13C 440279 broad.mit.edu 37 15 54586184 54586184 + Nonsense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:54586184G>T ENST00000545554.1 + 10 3910 c.3910G>T c.(3910-3912)Gag>Tag p.E1304* UNC13C_ENST00000260323.11_Nonsense_Mutation_p.E1304*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E1302* Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1304 C2 1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TTTCAAAAAGGAGTCAGATGA 0.358000 61 83 4.09106e-26 1.49424e-25 0.00361006 1 0 C10orf35 219738 broad.mit.edu 37 10 71392595 71392595 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:71392595G>T ENST00000373279.4 + 4 305 c.146G>T c.(145-147)cGc>cTc p.R49L C10orf35_ENST00000491890.1_3'UTR NM_145306.2 NP_660349.1 Q96D05 CJ035_HUMAN chromosome 10 open reading frame 35 49 integral to membrane breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 5 CCTGGCCCCCGCCAGCAGCAG 0.602000 17 19 1.99824e-07 5.68619e-07 0.000566183 1 0 LRP2 4036 broad.mit.edu 37 2 170058313 170058313 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:170058313G>T ENST00000263816.3 - 44 8562 c.8277C>A c.(8275-8277)cgC>cgA p.R2759R NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2759 LDL-receptor class A 17. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGTAATCACAGCGGTAAGAGT 0.498000 17 39 3.45872e-05 9.29046e-05 0.00400662 1 0 MYH1 4619 broad.mit.edu 37 17 10395801 10395801 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:10395801C>T ENST00000226207.5 - 40 5846 c.5752G>A c.(5752-5754)Gag>Aag p.E1918K CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1918 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 ACCTGGGACTCAGCAATGTCA 0.488000 62 31 0 0 0.00361006 0 0 OR4K5 79317 broad.mit.edu 37 14 20389063 20389063 + Nonsense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:20389063C>T ENST00000315915.4 + 1 323 c.298C>T c.(298-300)Caa>Taa p.Q100* NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGCATAGCCCAAATTTTCTT 0.413000 76 44 0 0 0.00361006 0 0 IGHD 3495 broad.mit.edu 37 14 106307375 106307375 + RNA SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:106307375G>A ENST00000390556.2 - 0 662 TTGCTGTGCCGCTCCAGCAGC 0.667000 3 2 0 0 6.4e-05 0 0 KIAA1377 57562 broad.mit.edu 37 11 101832914 101832914 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:101832914G>T ENST00000263468.8 + 6 1418 c.1148G>T c.(1147-1149)tGt>tTt p.C383F KIAA1377_ENST00000537689.1_Missense_Mutation_p.C184F NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 383 protein binding p.C383S(1) breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) GATAAAAAATGTGAAAAGACC 0.398000 15 29 0.000308642 0.000809088 0.00316338 1 0 SNHG14 104472715 broad.mit.edu 37 15 25322231 25322231 + RNA SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:25322231G>T ENST00000549804.2 + 0 1243 SNORD116-12_ENST00000384468.1_RNA TACATTCCTTGGAAAGCTGAA 0.438000 18 33 1.56452e-12 5.0115e-12 0.000958276 1 0 SSFA2 6744 broad.mit.edu 37 2 182783380 182783380 + Nonsense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:182783380C>G ENST00000431877.2 + 12 3022 c.2843C>G c.(2842-2844)tCa>tGa p.S948* SSFA2_ENST00000409136.1_Nonsense_Mutation_p.S457*|SSFA2_ENST00000428267.2_Nonsense_Mutation_p.S795*|SSFA2_ENST00000320370.7_Nonsense_Mutation_p.S948*|SSFA2_ENST00000409001.1_Nonsense_Mutation_p.S948* NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 948 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) ACTCAGAAATCATCTGTTCTA 0.313000 30 46 0 0 0.0024448 0 0 OR14J1 442191 broad.mit.edu 37 6 29274874 29274874 + Silent SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:29274874C>G ENST00000377160.2 + 1 472 c.408C>G c.(406-408)ccC>ccG p.P136P NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 TTATGGATCCCCGTGCCTGTA 0.502000 58 136 0 0 0.00361006 0 0 SPEF2 79925 broad.mit.edu 37 5 35727888 35727888 + Nonsense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:35727888C>A ENST00000440995.2 + 21 3011 c.3011C>A c.(3010-3012)tCa>tAa p.S1004* CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.S1009* Q9C093 SPEF2_HUMAN sperm flagellar 2 1009 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAGCCAGGATCAGAAGAATGG 0.428000 93 62 3.37413e-40 1.3124e-39 0.00361006 1 0 SLC4A10 57282 broad.mit.edu 37 2 162761344 162761344 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:162761344G>T ENST00000375514.5 + 14 1906 c.1619G>T c.(1618-1620)gGt>gTt p.G540V SLC4A10_ENST00000272716.5_Missense_Mutation_p.G529V|SLC4A10_ENST00000421911.1_Missense_Mutation_p.G559V|SLC4A10_ENST00000446997.1_Missense_Mutation_p.G559V|SLC4A10_ENST00000415876.2_Missense_Mutation_p.G529V NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 559 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TCTCTCTTTGGTGGACAGCCT 0.393000 47 62 2.55665e-31 9.66203e-31 0.00361006 1 0 SI 6476 broad.mit.edu 37 3 164741485 164741485 + Nonsense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:164741485G>T ENST00000264382.3 - 26 3034 c.2972C>A c.(2971-2973)tCa>tAa p.S991* NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 991 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACCCATGGATGAATAGCGAGC 0.413000 HNSCC(35;0.089) 17 26 3.45872e-05 9.29046e-05 0.00400662 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144855862 144855862 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:144855862G>C ENST00000369359.4 - 44 7137 c.7099C>G c.(7099-7101)Cat>Gat p.H2367D PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.H2231D|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H2231D|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.H2125D|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.H2316D Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2231 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CGAAGCTCATGAATACCTTTG 0.567000 T PDGFRB MPD 4 52 0 0 0.00198382 0 0 TEX13A 56157 broad.mit.edu 37 X 104464080 104464080 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:104464080C>T ENST00000413579.1 - 5 907 c.796G>A c.(796-798)Gat>Aat p.D266N IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Silent_p.E266E|TEX13A_ENST00000372575.1_Silent_p.E266E|IL1RAPL2_ENST00000344799.4_Intron Q9BXU3 TX13A_HUMAN testis expressed 13A 266 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 GACCGGAGATCTCCCTCCTTC 0.552000 27 42 0 0 0.000720815 0 0 USH2A 7399 broad.mit.edu 37 1 216040469 216040469 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:216040469C>G ENST00000366943.2 - 44 9111 c.8725G>C c.(8725-8727)Ggt>Cgt p.G2909R USH2A_ENST00000307340.3_Missense_Mutation_p.G2909R O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2909 Fibronectin type-III 15. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGTGTAAAACCCACACTGTTG 0.398000 HNSCC(13;0.011) 20 40 0 0 0.00152264 0 0 TMTC3 160418 broad.mit.edu 37 12 88588735 88588735 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:88588735A>T ENST00000266712.6 + 14 2274 c.2054A>T c.(2053-2055)aAt>aTt p.N685I NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 686 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 AAAAAGGACAATGAAGCAGAG 0.398000 35 13 0 0 0.00327116 0 0 ERN2 10595 broad.mit.edu 37 16 23706706 23706706 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:23706706G>C ENST00000256797.4 - 15 1927 c.1759C>G c.(1759-1761)Cag>Gag p.Q587E ERN2_ENST00000457008.2_Missense_Mutation_p.Q487E NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 539 Protein kinase. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CCCTCAAACTGTCCCCTGGAA 0.597000 9 6 0 0 0.000442599 0 0 AKAP13 11214 broad.mit.edu 37 15 86123011 86123011 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:86123011C>T ENST00000394518.2 + 7 1807 c.1712C>T c.(1711-1713)tCa>tTa p.S571L AKAP13_ENST00000361243.2_Missense_Mutation_p.S571L|RP11-815J21.2_ENST00000561409.1_RNA NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 571 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 ACGGAAACTTCACGAAGTCGT 0.443000 50 70 0 0 0.00361006 0 0 EMX2 2018 broad.mit.edu 37 10 119305325 119305325 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:119305325C>G ENST00000553456.3 + 2 1413 c.589C>G c.(589-591)Cag>Gag p.Q197E EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_Intron NM_004098.3 NP_004089.1 Q04743 EMX2_HUMAN empty spiracles homeobox 2 197 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2) 12 Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22) all cancers(201;0.0133) CACGGAAACTCAGGTGACTGC 0.632000 5 17 0 0 0.000602214 0 0 THOC2 57187 broad.mit.edu 37 X 122778702 122778702 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:122778702G>A ENST00000245838.8 - 14 1518 c.1487C>T c.(1486-1488)tCt>tTt p.S496F THOC2_ENST00000355725.4_Missense_Mutation_p.S496F|THOC2_ENST00000491737.1_Missense_Mutation_p.S381F NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 496 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 GTCCATCAAAGAAAGAGATGG 0.333000 27 46 0 0 0.000720815 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99337959 99337959 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:99337959A>T ENST00000408927.3 + 8 940 c.827A>T c.(826-828)cAa>cTa p.Q276L RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.Q185L|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.Q228L|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.Q277L|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.Q227L|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.Q277L NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 276 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) ATTGTTCAGCAAAAAGTGGAT 0.363000 T NUP98 T-ALL 22 11 0 0 0.00229938 0 0 NOX1 27035 broad.mit.edu 37 X 100125791 100125791 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:100125791C>T ENST00000372966.3 - 2 263 c.58G>A c.(58-60)Ggg>Agg p.G20R NOX1_ENST00000372964.1_Missense_Mutation_p.G20R|NOX1_ENST00000217885.5_Missense_Mutation_p.G20R|NOX1_ENST00000372960.4_Missense_Mutation_p.G20R NM_007052.4|NM_013955.2 NP_008983.2|NP_039249.1 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 20 angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 ACATTCAGCCCTAACCAAACA 0.383000 35 61 0 0 0.00283554 0 0 LRP2 4036 broad.mit.edu 37 2 170055350 170055350 + Missense_Mutation SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:170055350A>G ENST00000263816.3 - 45 8809 c.8524T>C c.(8524-8526)Tgt>Cgt p.C2842R NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2842 LDL-receptor class A 19. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCTCCGTCACACAAATAAACG 0.368000 12 28 0 0 0.00136819 0 0 RNASEL 6041 broad.mit.edu 37 1 182551297 182551297 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:182551297G>T ENST00000367559.3 - 4 1916 c.1663C>A c.(1663-1665)Cca>Aca p.P555T RNASEL_ENST00000444138.1_Missense_Mutation_p.P555T|RNASEL_ENST00000539397.1_Missense_Mutation_p.P555T NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 555 Protein kinase. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 tcctcatctggagaaagttga 0.488000 47 110 4.66543e-40 1.8088e-39 0.00361006 1 0 PIK3C2G 5288 broad.mit.edu 37 12 18658284 18658284 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:18658284G>T ENST00000433979.1 + 23 3205 c.3089G>T c.(3088-3090)gGa>gTa p.G1030V PIK3C2G_ENST00000266497.5_Missense_Mutation_p.G1030V|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.G1071V NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1030 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TTCATCCTGGGAGTATGTGAC 0.383000 22 16 4.35082e-09 1.30634e-08 0.00152264 1 0 IQUB 154865 broad.mit.edu 37 7 123092911 123092911 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr7:123092911C>A ENST00000466202.1 - 13 2838 c.2262G>T c.(2260-2262)caG>caT p.Q754H IQUB_ENST00000324698.6_Missense_Mutation_p.Q754H Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 754 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 GCACTGGAACCTGAGAAAAAT 0.348000 12 5 1.49906e-05 4.07227e-05 0.00244969 1 0 SYTL4 94121 broad.mit.edu 37 X 99931173 99931173 + Splice_Site SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:99931173C>A ENST00000455616.1 - 18 2214 c.1867_splice c.e18-1 p.G623_splice SYTL4_ENST00000454200.2_Splice_Site_p.G625_splice|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000276141.6_Splice_Site_p.G623_splice|SYTL4_ENST00000263033.5_Splice_Site_p.G623_splice|SYTL4_ENST00000372989.1_Splice_Site_p.G623_splice Q96C24 SYTL4_HUMAN synaptotagmin-like 4 623 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATTACTGATCCCTGAGGAGAA 0.557000 41 63 2.00842e-17 6.79685e-17 0.0025221 1 0 MAP3K19 80122 broad.mit.edu 37 2 135739048 135739048 + Missense_Mutation SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:135739048A>G ENST00000375845.3 - 9 3293 c.3263T>C c.(3262-3264)gTa>gCa p.V1088A MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.V975A|MAP3K19_ENST00000375844.3_Missense_Mutation_p.V270A|MAP3K19_ENST00000392917.3_Missense_Mutation_p.V220A|MAP3K19_ENST00000392918.3_Intron NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 CACCTGTTTTACAGCTATTAG 0.353000 33 49 0 0 0.0024448 0 0 CAPN10 11132 broad.mit.edu 37 2 241534551 241534551 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:241534551C>A ENST00000391984.2 + 7 1304 c.1108C>A c.(1108-1110)Cgg>Agg p.R370R CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Silent_p.R370R|CAPN10_ENST00000391982.2_Silent_p.R370R|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Silent_p.R370R NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 370 Domain III 1. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) ATTCTGGCTGCGGGTCTCAGA 0.672000 40 48 4.01765e-15 1.33328e-14 0.00222228 1 0 BUB1B 701 broad.mit.edu 37 15 40494809 40494809 + Nonsense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:40494809C>T ENST00000287598.6 + 14 1843 c.1648C>T c.(1648-1650)Cga>Tga p.R550* BUB1B_ENST00000412359.3_Nonsense_Mutation_p.R564* NM_001211.5 NP_001202.4 O60566 BUB1B_HUMAN BUB1 mitotic checkpoint serine/threonine kinase B 550 R -> Q (in MVA; heterozygous compound with nonsense mutation; dbSNP:rs28989187). anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2) 36 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) AGATCCCCCACGAGTTTTAGC 0.398000 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome 56 89 0 0 0.00361006 0 0 AMY2A 279 broad.mit.edu 37 1 104160135 104160135 + Missense_Mutation SNP C C T rs145483775 byFrequency TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:104160135C>T ENST00000414303.2 + 1 137 c.73C>T c.(73-75)Cgg>Tgg p.R25W NM_000699.2 NP_000690.1 P04746 AMYP_HUMAN amylase, alpha 2A (pancreatic) 25 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) ACAACAAGGACGGACATCTAT 0.443000 64 111 0 0 0.00361006 0 0 NLRP3 114548 broad.mit.edu 37 1 247599293 247599293 + Silent SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:247599293A>G ENST00000336119.3 + 6 3266 c.2520A>G c.(2518-2520)acA>acG p.T840T NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000391828.3_Silent_p.T840T|NLRP3_ENST00000366496.2_Intron|NLRP3_ENST00000391827.2_Silent_p.T783T|NLRP3_ENST00000348069.2_Intron NM_001127462.2|NM_001243133.1|NM_004895.4 NP_001120934.1|NP_001230062.1|NP_004886.3 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 840 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GCTGCCTCACATCAGCATGTT 0.537000 22 48 0 0 0.00278032 0 0 ZNF37A 7587 broad.mit.edu 37 10 38407754 38407754 + Missense_Mutation SNP T T G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:38407754T>G ENST00000351773.3 + 8 2505 c.1675T>G c.(1675-1677)Tac>Gac p.Y559D ZNF37A_ENST00000361085.4_Missense_Mutation_p.Y559D NM_001007094.2 NP_001007095.1 P17032 ZN37A_HUMAN zinc finger protein 37A 559 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 CGAGGGAAATTACTCTGGGTG 0.353000 3 7 0 0 0.000602214 0 0 ZNF702P 79986 broad.mit.edu 37 19 53473080 53473080 + RNA SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:53473080T>C ENST00000600068.1 - 0 489 ZNF702P_ENST00000270443.4_RNA GAGATGAATTTTGAACAAAGG 0.373000 18 50 0 0 0.000958276 0 0 CIB3 117286 broad.mit.edu 37 19 16275696 16275696 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:16275696C>A ENST00000269878.4 - 5 424 c.375G>T c.(373-375)gcG>gcT p.A125A CIB3_ENST00000379859.3_Silent_p.A76A|CIB3_ENST00000541493.1_5'UTR NM_054113.2 NP_473454.1 Q96Q77 CIB3_HUMAN calcium and integrin binding family member 3 125 EF-hand 2. calcium ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 CCAGGTCCCACGCACAAATGT 0.597000 28 87 1.04121e-07 2.99849e-07 0.000878237 1 0 ENPP1 5167 broad.mit.edu 37 6 132203596 132203596 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:132203596G>C ENST00000360971.2 + 21 2232 c.2212G>C c.(2212-2214)Ggg>Cgg p.G738R NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 738 Nuclease. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) AGTGAGTTACGGGTTCCTCTC 0.383000 35 56 0 0 0.00148497 0 0 CUBN 8029 broad.mit.edu 37 10 16996484 16996484 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:16996484C>A ENST00000377833.4 - 32 4824 c.4759G>T c.(4759-4761)Gct>Tct p.A1587S NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1587 CUB 10. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATGGGGTTAGCCAGCTGCTCC 0.532000 29 43 4.59853e-10 1.41257e-09 0.000878237 1 0 ARHGEF9 23229 broad.mit.edu 37 X 62917154 62917154 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:62917154C>G ENST00000253401.6 - 4 1212 c.412G>C c.(412-414)Gac>Cac p.D138H ARHGEF9_ENST00000374872.1_Missense_Mutation_p.D117H|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.D36H|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.D85H|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.D136H|ARHGEF9_ENST00000495564.1_5'UTR NM_015185.2 NP_056000.1 O43307 ARHG9_HUMAN Cdc42 guanine nucleotide exchange factor (GEF) 9 138 DH. apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1) 35 CTGAACATGTCCCTTCTCTTC 0.453000 21 41 0 0 0.00152264 0 0 MAP2 4133 broad.mit.edu 37 2 210545497 210545497 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:210545497C>T ENST00000360351.4 + 6 906 c.400C>T c.(400-402)Cct>Tct p.P134S MAP2_ENST00000199940.6_Missense_Mutation_p.P134S|MAP2_ENST00000361559.4_Missense_Mutation_p.P134S|MAP2_ENST00000392194.1_Missense_Mutation_p.P134S|MAP2_ENST00000447185.1_Missense_Mutation_p.P134S NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 134 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AGCTAATCTGCCTCCTTCTCC 0.433000 88 147 0 0 0.00361006 0 0 FAM199X 139231 broad.mit.edu 37 X 103432977 103432977 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:103432977G>A ENST00000493442.1 + 5 1152 c.986G>A c.(985-987)cGg>cAg p.R329Q FAM199X_ENST00000299906.5_Intron NM_207318.3 NP_997201.1 Q6PEV8 F199X_HUMAN family with sequence similarity 199, X-linked 329 breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 GAGCGGATTCGGGATTCAAAA 0.398000 77 133 0 0 0.00361006 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255068 15255068 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:15255068G>A ENST00000378116.4 - 8 2525 c.2519C>T c.(2518-2520)gCg>gTg p.A840V NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 840 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GGGGGCATCCGCAGTCCGTCT 0.617000 39 83 0 0 0.00285205 0 0 TCN1 6947 broad.mit.edu 37 11 59622199 59622199 + Silent SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:59622199A>G ENST00000257264.3 - 7 1151 c.1047T>C c.(1045-1047)aaT>aaC p.N349N TCN1_ENST00000532419.1_5'UTR NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 349 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCACAGTGACATTGGTGAAAT 0.403000 36 59 0 0 0.00111076 0 0 IGKC 3514 broad.mit.edu 37 2 89161166 89161166 + RNA SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:89161166G>T ENST00000430694.1 - 0 721 ATGTTCCCCAGGACATTTCTG 0.393000 22 29 1.2644e-06 3.5309e-06 0.00152264 1 0 COL11A1 1301 broad.mit.edu 37 1 103440441 103440441 + Splice_Site SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:103440441T>A ENST00000358392.2 - 36 3108 c.e36-2 COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTGAGGACCCTGGAAATAAAA 0.388000 23 28 0 0 0.00332997 0 0 HDAC4 9759 broad.mit.edu 37 2 240029767 240029767 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:240029767C>T ENST00000345617.3 - 15 2867 c.2076G>A c.(2074-2076)acG>acA p.T692T HDAC4_ENST00000543185.1_Silent_p.T276T|HDAC4_ENST00000541256.1_Silent_p.T666T NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 692 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) CCCGGAGGCCCGTCTCCTGCA 0.677000 11 20 0 0 0.00136819 0 0 MIEF1 54471 broad.mit.edu 37 22 39910115 39910115 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr22:39910115C>T ENST00000325301.2 + 6 1603 c.1179C>T c.(1177-1179)gcC>gcT p.A393A SMCR7L_ENST00000402881.1_Silent_p.A393A|SMCR7L_ENST00000404569.1_Silent_p.A393A NM_019008.4 NP_061881.2 Q9NQG6 SMC7L_HUMAN 393 integral to membrane|mitochondrion central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1) 16 Melanoma(58;0.04) TCCACTTGGCCCAGGAGGAGG 0.592000 OREG0026577 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 11 0 0 0.00121646 0 0 DCDC1 341019 broad.mit.edu 37 11 30928266 30928266 + Missense_Mutation SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:30928266A>G ENST00000597505.1 - 28 3924 c.3925T>C c.(3925-3927)Tgt>Cgt p.C1309R DCDC1_ENST00000406071.2_Missense_Mutation_p.C44R|DCDC1_ENST00000339794.5_Missense_Mutation_p.C388R P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) GAGAGATAACAGTATCCCTAA 0.368000 9 15 0 0 0.000673444 0 0 ATXN7L3 56970 broad.mit.edu 37 17 42274669 42274669 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:42274669C>A ENST00000389384.4 - 3 591 c.283G>T c.(283-285)Gcc>Tcc p.A95S ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.A95S NM_001098833.1 NP_001092303.1 Q14CW9 AT7L3_HUMAN ataxin 7-like 3 95 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) AAGCGGGAGGCGGCAATGCTG 0.592000 74 84 2.23852e-25 8.07757e-25 0.00361006 1 0 RP1 6101 broad.mit.edu 37 8 55542017 55542017 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:55542017C>G ENST00000220676.1 + 4 5723 c.5575C>G c.(5575-5577)Cag>Gag p.Q1859E NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1859 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGGTAGTCATCAGTCAGAAAG 0.418000 24 20 0 0 0.00278032 0 0 SNX17 9784 broad.mit.edu 37 2 27596131 27596131 + Translation_Start_Site SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:27596131C>A ENST00000542478.1 + 0 301 SNX17_ENST00000233575.2_Missense_Mutation_p.L92I|SNX17_ENST00000537606.1_Missense_Mutation_p.L67I|SNX17_ENST00000543024.1_De_novo_Start_OutOfFrame Q15036 SNX17_HUMAN sorting nexin 17 cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGACCCATTGCTTGGGAGCAG 0.527000 17 68 0.000958276 0.00249027 0.000958276 1 0 GLYAT 10249 broad.mit.edu 37 11 58491896 58491896 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:58491896G>A ENST00000344743.3 - 2 215 c.74C>T c.(73-75)tCc>tTc p.S25F GLYAT_ENST00000278400.3_Missense_Mutation_p.S25F|GLYAT_ENST00000529732.1_Missense_Mutation_p.S25F NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 25 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) CACCTTTAAGGATGCTGGGAG 0.428000 50 82 0 0 0.00361006 0 0 MERTK 10461 broad.mit.edu 37 2 112754924 112754924 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:112754924C>T ENST00000295408.4 + 10 1732 c.1475C>T c.(1474-1476)tCa>tTa p.S492L MERTK_ENST00000409780.1_Missense_Mutation_p.S316L|MERTK_ENST00000421804.2_Missense_Mutation_p.S492L Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 492 cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 GCCCCCTCTTCAACTCCGGCG 0.443000 87 165 0 0 0.00361006 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48873734 48873734 + Silent SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:48873734A>G ENST00000394754.1 + 8 2757 c.2643A>G c.(2641-2643)ccA>ccG p.P881P LHCGR_ENST00000420913.3_5'UTR|GTF2A1L_ENST00000430487.2_Silent_p.P143P|STON1-GTF2A1L_ENST00000394751.3_Silent_p.P834P|STON1-GTF2A1L_ENST00000402114.2_Silent_p.P881P|GTF2A1L_ENST00000403751.3_Silent_p.P177P|STON1-GTF2A1L_ENST00000405008.1_Silent_p.P881P|STON1-GTF2A1L_ENST00000309827.2_Silent_p.P881P NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 834 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AATTGAATCCATGGTCTCTTC 0.428000 39 32 0 0 0.00428921 0 0 OR52E4 390081 broad.mit.edu 37 11 5905604 5905604 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:5905604T>A ENST00000316987.2 + 1 104 c.82T>A c.(82-84)Tgg>Agg p.W28R NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTTACATATCTGGATTTCTTT 0.443000 80 117 0 0 0.00361006 0 0 DCC 1630 broad.mit.edu 37 18 50866235 50866235 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr18:50866235C>A ENST00000442544.2 + 15 2933 c.2317C>A c.(2317-2319)Cgt>Agt p.R773S DCC_ENST00000412726.1_Missense_Mutation_p.R621S|DCC_ENST00000581580.1_Missense_Mutation_p.R428S NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 773 Fibronectin type-III 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TGAGACAGTGCGTGTGGACAG 0.418000 68 49 3.13765e-25 1.1288e-24 0.00361006 1 0 PCDHA2 56146 broad.mit.edu 37 5 140176493 140176493 + Silent SNP C C T rs140366950 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:140176493C>T ENST00000526136.1 + 1 1944 c.1944C>T c.(1942-1944)ctC>ctT p.L648L PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.L648L|PCDHA2_ENST00000378132.1_Silent_p.L648L NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCGCCTACTCGTGCTGGTGA 0.652000 48 16 0 0 0.00361006 0 0 GPR50 9248 broad.mit.edu 37 X 150348250 150348250 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:150348250C>G ENST00000218316.3 + 2 264 c.195C>G c.(193-195)atC>atG p.I65M NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 65 cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CAGGCAACATCTTCGTGGTCA 0.488000 152 317 0 0 0.00361006 0 0 COL27A1 85301 broad.mit.edu 37 9 117071686 117071686 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:117071686C>T ENST00000356083.3 + 60 5755 c.5364C>T c.(5362-5364)ttC>ttT p.F1788F NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1788 Fibrillar collagen NC1. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CCGTACGCTTCCGGGCCTGGA 0.607000 46 66 0 0 0.00285205 0 0 ANO1 55107 broad.mit.edu 37 11 70033950 70033950 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:70033950T>A ENST00000355303.5 + 26 3106 c.2801T>A c.(2800-2802)tTc>tAc p.F934Y ANO1_ENST00000531349.1_Missense_Mutation_p.F643Y|ANO1_ENST00000538023.1_Missense_Mutation_p.F934Y|ANO1_ENST00000530676.1_Missense_Mutation_p.F788Y|ANO1-AS1_ENST00000524987.1_RNA|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000398543.2_Missense_Mutation_p.F788Y NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 934 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 GTGGAGCTGTTCATGCGGGAG 0.577000 6 4 0 0 0.00116845 0 0 IL27RA 9466 broad.mit.edu 37 19 14163009 14163009 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:14163009C>A ENST00000263379.2 + 14 1943 c.1818C>A c.(1816-1818)acC>acA p.T606T NM_004843.3 NP_004834.1 Q6UWB1 I27RA_HUMAN interleukin 27 receptor, alpha 606 cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 26 CCCAGGCCACCGCCCCGCTTG 0.662000 16 14 3.52763e-06 9.6929e-06 0.000566183 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88886016 88886016 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:88886016G>A ENST00000319675.3 - 1 280 c.184C>T c.(184-186)Cat>Tat p.H62Y NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 62 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 TCCCAGCTATGAATCTGGACC 0.512000 39 50 0 0 0.00148497 0 0 PASD1 139135 broad.mit.edu 37 X 150780162 150780162 + Silent SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:150780162G>C ENST00000370357.4 + 4 389 c.144G>C c.(142-144)ctG>ctC p.L48L NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 48 PAS. nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) TGATTACACTGAGCACAGATG 0.318000 14 75 0 0 0.00244969 0 0 PTGER3 5733 broad.mit.edu 37 1 71478100 71478100 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:71478100T>C ENST00000370924.4 - 2 1195 c.965A>G c.(964-966)cAg>cGg p.Q322R PTGER3_ENST00000356595.4_Missense_Mutation_p.Q322R|PTGER3_ENST00000460330.1_Missense_Mutation_p.Q322R|PTGER3_ENST00000370931.3_Missense_Mutation_p.Q322R|PTGER3_ENST00000354608.5_Missense_Mutation_p.Q322R|PTGER3_ENST00000306666.5_Missense_Mutation_p.Q322R|PTGER3_ENST00000414819.1_Missense_Mutation_p.Q322R|PTGER3_ENST00000370932.2_Missense_Mutation_p.Q322R|PTGER3_ENST00000351052.5_Missense_Mutation_p.Q322R NM_198715.2 NP_942008.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 322 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) GCATTCTTTCTGCTTCTCCGT 0.398000 26 33 0 0 0.000720815 0 0 TTN 7273 broad.mit.edu 37 2 179659867 179659867 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:179659867G>T ENST00000589042.1 - 7 1251 c.1027C>A c.(1027-1029)Ccc>Acc p.P343T TTN_ENST00000342992.6_Missense_Mutation_p.P343T|TTN_ENST00000360870.5_Missense_Mutation_p.P343T|TTN_ENST00000460472.2_Missense_Mutation_p.P343T|TTN_ENST00000342175.6_Missense_Mutation_p.P343T|TTN_ENST00000359218.5_Missense_Mutation_p.P343T|TTN_ENST00000591111.1_Missense_Mutation_p.P343T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 343 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCCAAGGGGGAGGCACTTCA 0.547000 30 46 1.38854e-25 5.05615e-25 0.001512 1 0 EYS 346007 broad.mit.edu 37 6 66204788 66204788 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:66204788C>A ENST00000503581.1 - 4 1053 c.516G>T c.(514-516)caG>caT p.Q172H EYS_ENST00000393380.2_Missense_Mutation_p.Q172H|EYS_ENST00000370621.3_Missense_Mutation_p.Q172H|EYS_ENST00000370618.3_Missense_Mutation_p.Q172H|EYS_ENST00000370616.2_Missense_Mutation_p.Q172H|EYS_ENST00000342421.5_Missense_Mutation_p.Q172H NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 172 EGF-like 1. response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 CCTGGCAGAACTGCTGTTTCA 0.453000 13 30 2.68362e-12 8.55047e-12 0.00136819 1 0 DIRAS3 9077 broad.mit.edu 37 1 68512915 68512915 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:68512915G>A ENST00000370981.1 - 4 702 c.66C>T c.(64-66)gcC>gcT p.A22A GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.A22A|GNG12-AS1_ENST00000420587.1_RNA O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 22 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GGATAAGCAGGGCGGGCAGAA 0.587000 28 38 0 0 0.00106085 0 0 C18orf25 147339 broad.mit.edu 37 18 43795987 43795987 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr18:43795987G>T ENST00000282059.6 + 2 515 c.141G>T c.(139-141)gcG>gcT p.A47A C18orf25_ENST00000321319.6_Silent_p.A47A NM_145055.3 NP_659492.1 Q96B23 CR025_HUMAN chromosome 18 open reading frame 25 47 central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 11 ATGGTGTAGCGGATTCTACAG 0.458000 91 25 6.71967e-41 2.63077e-40 0.00361006 1 0 AMER1 139285 broad.mit.edu 37 X 63410016 63410016 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:63410016C>T ENST00000330258.3 - 2 3423 c.3151G>A c.(3151-3153)Gtg>Atg p.V1051M AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) GGCAGCAGCACATCTCGAGGC 0.612000 9 10 0 0 0.000274275 0 0 SPTA1 6708 broad.mit.edu 37 1 158655028 158655028 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:158655028C>A ENST00000368148.3 - 2 314 c.134G>T c.(133-135)aGg>aTg p.R45M SPTA1_ENST00000368147.3_Missense_Mutation_p.R45M NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 45 R -> S (in EL2; Clichy).|R -> T (in EL2; Anastasia). actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) cttctgaccccTCTCAGCGAC 0.478000 42 53 3.43241e-23 1.22747e-22 0.00222228 1 0 ZNF107 51427 broad.mit.edu 37 7 64168848 64168848 + Missense_Mutation SNP T T G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr7:64168848T>G ENST00000395391.1 + 4 3541 c.2166T>G c.(2164-2166)tgT>tgG p.C722W ZNF107_ENST00000344930.3_Missense_Mutation_p.C722W|ZNF107_ENST00000423627.1_Missense_Mutation_p.C722W Q9UII5 ZN107_HUMAN zinc finger protein 107 722 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) CCTACAAATGTGAAGAATGTG 0.348000 10 11 0 0 0.000442599 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996136 140996136 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:140996136C>A ENST00000285879.4 + 4 3232 c.2946C>A c.(2944-2946)ctC>ctA p.L982L MAGEC1_ENST00000406005.2_Silent_p.L49L NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 982 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CATTAGACCTCACCTCTGAGG 0.473000 HNSCC(15;0.026) 70 127 2.23852e-25 8.07757e-25 0.00361006 1 0 COL18A1 80781 broad.mit.edu 37 21 46912603 46912603 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr21:46912603C>A ENST00000359759.4 + 23 3456 c.3435C>A c.(3433-3435)ggC>ggA p.G1145G COL18A1_ENST00000355480.5_Silent_p.G910G|COL18A1_ENST00000400337.2_Silent_p.G730G P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1145 Triple-helical region 5 (COL5). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) TTCCCCAGGGCCGGCCGGGTT 0.701000 25 48 7.41945e-09 2.18929e-08 0.000878237 1 0 OR8B12 219858 broad.mit.edu 37 11 124413188 124413188 + Silent SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:124413188G>C ENST00000306842.2 - 1 387 c.363C>G c.(361-363)cgC>cgG p.R121R NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) TGGCCACGTAGCGGTCATACG 0.507000 23 49 0 0 0.00332997 0 0 USP10 9100 broad.mit.edu 37 16 84793532 84793532 + Missense_Mutation SNP T T G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:84793532T>G ENST00000219473.7 + 7 1543 c.1430T>G c.(1429-1431)gTa>gGa p.V477G USP10_ENST00000570191.1_Missense_Mutation_p.V481G NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 477 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 AATATGCCAGTACCTCCAAAA 0.328000 27 18 0 0 0.00178596 0 0 MICB 4277 broad.mit.edu 37 6 31477636 31477636 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:31477636C>G ENST00000252229.6 + 6 1181 c.1102C>G c.(1102-1104)Cag>Gag p.Q368E MICB_ENST00000538442.1_Missense_Mutation_p.Q336E|MICB_ENST00000399150.3_Missense_Mutation_p.Q325E NM_005931.3 NP_005922.2 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 368 antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 13 GCTGGGATTTCAGCCTCTGAT 0.577000 68 55 0 0 0.00361006 0 0 LYPD2 137797 broad.mit.edu 37 8 143832542 143832542 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:143832542C>A ENST00000359228.3 - 2 187 c.105G>T c.(103-105)tcG>tcT p.S35S NM_205545.1 NP_991108.1 Q6UXB3 LYPD2_HUMAN LY6/PLAUR domain containing 2 35 UPAR/Ly6. anchored to membrane|plasma membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2) 7 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TGACACAGTCCGACACTCCTG 0.652000 46 61 1.23713e-20 4.30837e-20 0.00361006 1 0 PEG3 5178 broad.mit.edu 37 19 57335999 57335999 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:57335999C>T ENST00000326441.9 - 4 388 c.25G>A c.(25-27)Gcc>Acc p.A9T ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000594706.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.A9T|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 9 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A9S(2) NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GGTTTGGTGGCAGACAAGTGC 0.488000 18 58 0 0 0.000566183 0 0 SRGAP1 57522 broad.mit.edu 37 12 64472740 64472740 + Silent SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:64472740T>C ENST00000355086.3 + 9 1691 c.1167T>C c.(1165-1167)gaT>gaC p.D389D SRGAP1_ENST00000543397.1_Silent_p.D349D|SRGAP1_ENST00000357825.3_Silent_p.D389D|RP11-196H14.2_ENST00000535594.1_RNA NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 389 axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CGATACAAGATATGGTCACCA 0.423000 39 12 0 0 0.00111076 0 0 IRS4 8471 broad.mit.edu 37 X 107977346 107977346 + Nonsense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:107977346G>C ENST00000372129.2 - 1 2305 c.2229C>G c.(2227-2229)taC>taG p.Y743* NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 743 CRK-binding. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 ACATCATCATGTACCCTCTTG 0.458000 50 88 0 0 0.00361006 0 0 KHK 3795 broad.mit.edu 37 2 27322328 27322328 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:27322328G>T ENST00000260599.6 + 7 1207 c.694G>T c.(694-696)Gcc>Tcc p.A232S CGREF1_ENST00000402550.1_3'UTR|CGREF1_ENST00000452318.2_3'UTR|KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.A232S NM_000221.2 NP_000212.1 P50053 KHK_HUMAN ketohexokinase (fructokinase) 232 fructose catabolic process cytosol ATP binding|ketohexokinase activity|protein binding p.A232S(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGCGCCGACGCCCTGGGCCC 0.652000 17 70 1.56452e-12 5.0115e-12 0.000958276 1 0 OPRD1 4985 broad.mit.edu 37 1 29185538 29185538 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:29185538C>G ENST00000234961.2 + 2 542 c.300C>G c.(298-300)agC>agG p.S100R NM_000911.3 NP_000902.3 P41143 OPRD_HUMAN opioid receptor, delta 1 100 immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) TGGCCACCAGCACGCTGCCTT 0.507000 41 85 0 0 0.00170553 0 0 HPSE2 60495 broad.mit.edu 37 10 100481443 100481443 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:100481443C>A ENST00000370552.3 - 5 986 c.927G>T c.(925-927)ccG>ccT p.P309P HPSE2_ENST00000370546.1_Silent_p.P309P|HPSE2_ENST00000370549.1_Silent_p.P251P|HPSE2_ENST00000404542.1_Silent_p.P197P NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 309 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) CATTCTTCCTCGGCCGCCCAA 0.438000 14 31 0.000151284 0.000400086 0.00185496 1 0 PCSK7 9159 broad.mit.edu 37 11 117093951 117093951 + Missense_Mutation SNP A A C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:117093951A>C ENST00000320934.3 - 9 1758 c.1128T>G c.(1126-1128)agT>agG p.S376R PCSK7_ENST00000540028.1_Missense_Mutation_p.S17R NM_004716.2 NP_004707.2 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 376 Catalytic. peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 16 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) TGTCCCCACCACTGAAGGTGA 0.577000 T IGH@ MLCLS 42 57 0 0 0.0025221 0 0 NDN 4692 broad.mit.edu 37 15 23931741 23931741 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:23931741G>C ENST00000331837.4 - 1 709 c.624C>G c.(622-624)agC>agG p.S208R NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 208 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TCCAGACGGCGCTCTCTCTGG 0.637000 Prader-Willi syndrome 19 27 0 0 0.00121646 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884716 228884716 + Missense_Mutation SNP C C G rs145402025 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:228884716C>G ENST00000392056.3 - 7 900 c.854G>C c.(853-855)cGa>cCa p.R285P SPHKAP_ENST00000344657.5_Missense_Mutation_p.R285P NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 285 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTCTGGAGATCGTTCTGTTTT 0.443000 73 137 0 0 0.00361006 0 0 OR9G4 283189 broad.mit.edu 37 11 56511027 56511027 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:56511027C>A ENST00000302957.3 - 1 260 c.261G>T c.(259-261)tgG>tgT p.W87C NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 CAGAGGTATACCAGAAATCCA 0.433000 34 63 6.90743e-12 2.1834e-11 0.00375469 1 0 KLHL34 257240 broad.mit.edu 37 X 21674749 21674749 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:21674749G>A ENST00000379499.2 - 1 1699 c.1158C>T c.(1156-1158)gaC>gaT p.D386D NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 386 cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 CCCGCGAGTCGTCGGCCAGGG 0.682000 10 6 0 0 0.000978159 0 0 HMGB4 127540 broad.mit.edu 37 1 34329945 34329945 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:34329945C>A ENST00000522796.1 + 4 2058 c.153C>A c.(151-153)tcC>tcA p.S51S HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Silent_p.S51S B2R4X7 B2R4X7_HUMAN high mobility group box 4 51 nucleus DNA binding NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AATGGAGATCCATCTCAAAGC 0.403000 48 84 1.61863e-15 5.41652e-15 0.00361006 1 0 ANO7 50636 broad.mit.edu 37 2 242135326 242135326 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:242135326C>T ENST00000402530.3 + 4 637 c.534C>T c.(532-534)gcC>gcT p.A178A ANO7_ENST00000402430.3_Intron|ANO7_ENST00000274979.8_Intron NM_001001666.3 NP_001001666.1 Q6IWH7 ANO7_HUMAN anoctamin 7 0 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 ATGACCTTGCCGCATGAGGCC 0.627000 15 24 0 0 0.00244969 0 0 IGKV1D-43 28891 broad.mit.edu 37 2 90249169 90249169 + RNA SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:90249169C>A ENST00000468879.1 + 0 306 GACAGAGTCACCATCACTTGC 0.473000 85 125 9.11151e-29 3.38994e-28 0.00361006 1 0 TAS2R13 50838 broad.mit.edu 37 12 11061579 11061579 + Missense_Mutation SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:11061579A>G ENST00000390677.2 - 1 582 c.319T>C c.(319-321)Tat>Cat p.Y107H PRR4_ENST00000536668.1_Intron NM_023920.2 NP_076409.1 Q9NYV9 T2R13_HUMAN taste receptor, type 2, member 13 107 sensory perception of taste integral to membrane taste receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 TTGAGCAAATAAAAGATGCTG 0.368000 77 33 0 0 0.00361006 0 0 STK32B 55351 broad.mit.edu 37 4 5458560 5458560 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:5458560G>A ENST00000282908.5 + 8 1115 c.693G>A c.(691-693)acG>acA p.T231T STK32B_ENST00000510398.1_Silent_p.T184T|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Silent_p.T154T NM_018401.1 NP_060871.1 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 231 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 39 ACTCGGTCACGCCCATCGATG 0.532000 10 6 0 0 0.000442599 0 0 ZIM3 114026 broad.mit.edu 37 19 57647112 57647112 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:57647112T>C ENST00000269834.1 - 5 978 c.593A>G c.(592-594)cAt>cGt p.H198R NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 198 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCCACAGCTATGACATTCAAA 0.438000 68 69 0 0 0.00361006 0 0 CCDC144CP 348254 broad.mit.edu 37 17 20224898 20224898 + RNA SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:20224898C>T ENST00000580225.1 + 0 105 CCDC144CP_ENST00000340196.4_RNA GCTGCCCGGTCGGGCGACGTC 0.642000 91 79 0 0 0.00361006 0 0 LRP1B 53353 broad.mit.edu 37 2 141816540 141816540 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:141816540G>T ENST00000389484.3 - 9 2291 c.1320C>A c.(1318-1320)aaC>aaA p.N440K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 440 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CATTAAATCGGTTTATCCTTA 0.323000 TSP Lung(27;0.18) 23 58 1.55795e-14 5.09951e-14 0.00188189 1 0 SHROOM3 57619 broad.mit.edu 37 4 77660612 77660612 + Missense_Mutation SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:77660612A>G ENST00000296043.6 + 5 2239 c.1286A>G c.(1285-1287)gAg>gGg p.E429G NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 429 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) CCATTCATAGAGGAGCAGCTG 0.577000 21 47 0 0 0.00188189 0 0 PROSC 11212 broad.mit.edu 37 8 37623867 37623867 + Silent SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:37623867T>C ENST00000328195.3 + 4 380 c.313T>C c.(313-315)Ttg>Ctg p.L105L NM_007198.3 NP_009129.1 O94903 PROSC_HUMAN proline synthetase co-transcribed homolog (bacterial) 105 pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) L-Proline(DB00172)|Pyridoxal Phosphate(DB00114) TGTCAACAAATTGATGGGTAA 0.363000 53 65 0 0 0.00361006 0 0 WDR44 54521 broad.mit.edu 37 X 117527102 117527102 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:117527102G>A ENST00000254029.3 + 4 1089 c.694G>A c.(694-696)Gtt>Att p.V232I WDR44_ENST00000371822.5_Missense_Mutation_p.V207I|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.V232I NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 232 Pro-rich. cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 AAAGAAGCCTGTTCCAGCACG 0.517000 88 130 0 0 0.00361006 0 0 RLIM 51132 broad.mit.edu 37 X 73811496 73811496 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:73811496G>T ENST00000332687.6 - 4 1872 c.1654C>A c.(1654-1656)Cag>Aag p.Q552K RLIM_ENST00000349225.2_Missense_Mutation_p.Q552K NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 552 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTGTCAATCTGTTCTTTGGTG 0.393000 19 32 7.07596e-05 0.000188378 0.00074312 1 0 DNMT1 1786 broad.mit.edu 37 19 10265725 10265725 + Silent SNP G G A rs75443147 by1000genomes TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:10265725G>A ENST00000340748.4 - 19 1687 c.1452C>T c.(1450-1452)gcC>gcT p.A484A DNMT1_ENST00000359526.4_Silent_p.A500A|DNMT1_ENST00000540357.1_Silent_p.A484A P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 484 DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) GAATGTATTCGGCAAATGCTG 0.532000 37 38 0 0 0.00170553 0 0 TRIM22 10346 broad.mit.edu 37 11 5730671 5730671 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:5730671G>A ENST00000379965.3 + 8 1567 c.1290G>A c.(1288-1290)aaG>aaA p.K430K TRIM5_ENST00000380027.1_Intron NM_001199573.1|NM_006074.4 NP_001186502.1|NP_006065.2 Q8IYM9 TRI22_HUMAN tripartite motif containing 22 430 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) CTGATCCCAAGGTTTTGACTC 0.423000 44 80 0 0 0.00321405 0 0 PASD1 139135 broad.mit.edu 37 X 150791486 150791486 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:150791486C>A ENST00000370357.4 + 7 741 c.496C>A c.(496-498)Cgg>Agg p.R166R NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 166 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) TCAGGAGGATCGGCTTTATCT 0.502000 63 104 2.53126e-37 9.75065e-37 0.00361006 1 0 SRCAP 10847 broad.mit.edu 37 16 30749357 30749357 + Nonsense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:30749357G>T ENST00000262518.4 + 34 8381 c.7996G>T c.(7996-7998)Gag>Tag p.E2666* SRCAP_ENST00000395059.2_Nonsense_Mutation_p.E2604*|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.E2508* NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2666 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GCCACTTCAGGAGCCACTGGA 0.592000 34 70 5.91797e-21 2.07302e-20 0.0024448 1 0 TTN 7273 broad.mit.edu 37 2 179614488 179614488 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:179614488G>T ENST00000360870.5 - 46 12861 c.12639C>A c.(12637-12639)agC>agA p.S4213R TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3557 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATAATTGGTGGCTACAATTAA 0.348000 14 29 7.93312e-07 2.22053e-06 0.00244969 1 0 LOC220729 220729 broad.mit.edu 37 3 197348668 197348668 + RNA SNP C C G rs79940815 by1000genomes TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 ACTTGAGGCTCTGTCCACCAA 0.488000 4 93 0 0 0.000602214 0 0 GPR98 84059 broad.mit.edu 37 5 89933676 89933676 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:89933676A>T ENST00000405460.2 + 11 2247 c.2151A>T c.(2149-2151)ttA>ttT p.L717F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 717 Calx-beta 5. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTTTGTTTTTATCTGGGCAAA 0.418000 23 14 0 0 0.00332997 0 0 ZNF883 169834 broad.mit.edu 37 9 115760032 115760032 + RNA SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:115760032C>T ENST00000427548.1 - 0 1781 P0CG24 ZN883_HUMAN zinc finger protein 883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding CCCTGATGTTCAATTAGGTGT 0.403000 29 45 0 0 0.00127121 0 0 HAPLN4 404037 broad.mit.edu 37 19 19368850 19368850 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:19368850G>A ENST00000291481.7 - 5 1048 c.985C>T c.(985-987)Cgc>Tgc p.R329C AC138430.4_ENST00000586064.2_RNA NM_023002.2 NP_075378.1 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 329 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1) 16 Epithelial(12;0.00575) ATGGGGTAGCGCGCACTGCCA 0.731000 4 4 0 0 0.00024832 0 0 FLG 2312 broad.mit.edu 37 1 152282723 152282723 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:152282723C>T ENST00000368799.1 - 3 4674 c.4639G>A c.(4639-4641)Gag>Aag p.E1547K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1547 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATTGTTCCTCATTTCTTGTT 0.587000 Ichthyosis 168 237 0 0 0.00361006 0 0 SF1 7536 broad.mit.edu 37 11 64536570 64536570 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:64536570G>T ENST00000377390.3 - 8 1148 c.811C>A c.(811-813)Cgc>Agc p.R271S SF1_ENST00000377394.3_Missense_Mutation_p.R271S|SF1_ENST00000433274.2_Missense_Mutation_p.R245S|SF1_ENST00000227503.9_Missense_Mutation_p.R271S|SF1_ENST00000334944.5_Missense_Mutation_p.R271S|SF1_ENST00000422298.2_Missense_Mutation_p.R156S|SF1_ENST00000377387.1_Missense_Mutation_p.R396S|SF1_ENST00000489544.1_5'UTR NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 271 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 GTAATGCTGCGGGTCTCTGAG 0.488000 5 212 0.00198382 0.00513308 0.00198382 1 0 SDPR 8436 broad.mit.edu 37 2 192701281 192701281 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:192701281C>G ENST00000304141.4 - 2 975 c.646G>C c.(646-648)Gaa>Caa p.E216Q NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 216 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) GCACTGTCTTCCAGGGCCTCC 0.502000 47 79 0 0 0.00361006 0 0 DUOX2 50506 broad.mit.edu 37 15 45402630 45402630 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:45402630T>A ENST00000389039.6 - 9 1421 c.1036A>T c.(1036-1038)Atg>Ttg p.M346L DUOX2_ENST00000603300.1_Missense_Mutation_p.M346L Q9NRD8 DUOX2_HUMAN dual oxidase 2 346 Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CCTCACCTCATGTAGACACCA 0.577000 21 21 0 0 0.00188189 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 4 45 0 0 0.00024832 0 0 AKAP14 158798 broad.mit.edu 37 X 119037469 119037469 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:119037469C>G ENST00000371431.3 + 4 455 c.181C>G c.(181-183)Cct>Gct p.P61A AKAP14_ENST00000371423.2_Missense_Mutation_p.P61A|AKAP14_ENST00000334356.2_Missense_Mutation_p.P61A|AKAP14_ENST00000394594.2_Missense_Mutation_p.P61A|AKAP14_ENST00000371425.4_Missense_Mutation_p.P61A|AKAP14_ENST00000371422.1_Missense_Mutation_p.P61A NM_178813.5 NP_848928.1 Q86UN6 AKA28_HUMAN A kinase (PRKA) anchor protein 14 61 cytoplasm endometrium(4)|large_intestine(1)|lung(8) 13 GGAGCGAAACCCTTTGAAAAA 0.393000 11 32 0 0 0.000978159 0 0 CYTIP 9595 broad.mit.edu 37 2 158272457 158272457 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:158272457C>A ENST00000264192.3 - 8 933 c.812G>T c.(811-813)aGg>aTg p.R271M CYTIP_ENST00000540637.1_Missense_Mutation_p.R165M NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 271 Ser-rich. regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 GAAGGCACCCCTGCTGGAGTC 0.532000 23 48 2.98393e-07 8.45095e-07 0.00278032 1 0 TRA2B 6434 broad.mit.edu 37 3 185636179 185636179 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:185636179C>A ENST00000453386.2 - 8 1105 c.830G>T c.(829-831)cGt>cTt p.R277L TRA2B_ENST00000382191.4_Missense_Mutation_p.R177L NM_004593.2 NP_004584.1 P62995 TRA2B_HUMAN transformer 2 beta homolog (Drosophila) 277 Arg/Ser-rich (RS2 domain). nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|protein binding|RNA binding breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 18 AGATCTGGAACGTGATCTGTA 0.368000 21 50 1.96292e-10 6.07644e-10 0.00152264 1 0 PRKDC 5591 broad.mit.edu 37 8 48697683 48697683 + Nonsense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:48697683C>A ENST00000314191.2 - 78 11151 c.11095G>T c.(11095-11097)Gag>Tag p.E3699* PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E3699* NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3700 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CCGGGAATCTCCAGCTCATTT 0.453000 Non-homologous end-joining 23 32 3.01185e-09 9.1116e-09 0.00395357 1 0 PDE4D 5144 broad.mit.edu 37 5 58287799 58287799 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:58287799T>A ENST00000340635.6 - 8 1223 c.1048A>T c.(1048-1050)Act>Tct p.T350S PDE4D_ENST00000360047.5_Missense_Mutation_p.T214S|PDE4D_ENST00000405755.2_Missense_Mutation_p.T228S|PDE4D_ENST00000317118.8_Missense_Mutation_p.T59S|PDE4D_ENST00000503258.1_Missense_Mutation_p.T220S|PDE4D_ENST00000507116.1_Missense_Mutation_p.T286S|PDE4D_ENST00000358923.6_Missense_Mutation_p.T48S|PDE4D_ENST00000502484.2_Missense_Mutation_p.T289S|PDE4D_ENST00000546160.1_Missense_Mutation_p.T289S NM_001104631.1 NP_001098101.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 350 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) TCCTTCTGAGTTGGAGAAGGA 0.318000 7 1 0 0 0.00198382 0 0 SORCS3 22986 broad.mit.edu 37 10 107016579 107016579 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:107016579C>T ENST00000369701.3 + 25 3567 c.3340C>T c.(3340-3342)Cca>Tca p.P1114S NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1114 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TTTCCAAGCTCCATTGGTGGA 0.458000 16 10 0 0 0.00316338 0 0 ETS1 2113 broad.mit.edu 37 11 128360449 128360449 + Silent SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:128360449T>A ENST00000392668.3 - 4 305 c.237A>T c.(235-237)ccA>ccT p.P79P ETS1_ENST00000531611.1_Silent_p.P35P|ETS1_ENST00000319397.5_Silent_p.P35P|ETS1_ENST00000345075.4_Silent_p.P35P|ETS1_ENST00000526145.1_Silent_p.P35P|ETS1_ENST00000535549.1_Intron NM_001143820.1 NP_001137292.1 P14921 ETS1_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 1 35 PNT. cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3) 35 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) GAGTTAATAGTGGGACATCTG 0.358000 15 17 0 0 0.00316338 0 0 OR5L1 219437 broad.mit.edu 37 11 55579555 55579555 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:55579555T>A ENST00000333973.2 + 1 702 c.613T>A c.(613-615)Ttg>Atg p.L205M NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) GGTGGCCACTTTGAATGAGAG 0.463000 48 101 0 0 0.00321405 0 0 ENPP7 339221 broad.mit.edu 37 17 77708950 77708950 + Missense_Mutation SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:77708950A>G ENST00000328313.5 + 3 729 c.508A>G c.(508-510)Acg>Gcg p.T170A NM_178543.3 NP_848638.2 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 170 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CAAAAATGAGACGGAGTGGAG 0.597000 21 31 0 0 0.00395357 0 0 POM121L12 285877 broad.mit.edu 37 7 53103797 53103797 + Nonsense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr7:53103797G>T ENST00000408890.4 + 1 449 c.433G>T c.(433-435)Gag>Tag p.E145* NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 145 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CGCGCCCCCTGAGCGTCAGGA 0.711000 11 24 1.5842e-08 4.65165e-08 0.00185496 1 0 TRPM6 140803 broad.mit.edu 37 9 77354822 77354822 + Missense_Mutation SNP C C A rs144713167 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:77354822C>A ENST00000451710.3 - 33 5553 c.5316G>T c.(5314-5316)caG>caT p.Q1772H TRPM6_ENST00000376871.3_Missense_Mutation_p.Q605H|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1772H|TRPM6_ENST00000360774.1_Missense_Mutation_p.Q1768H|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1763H|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1763H|TRPM6_ENST00000376872.3_Missense_Mutation_p.Q723H Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1768 Alpha-type protein kinase. response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GGGACAATACCTGGATCATTG 0.498000 33 53 2.08457e-15 6.93698e-15 0.00209593 1 0 NBAS 51594 broad.mit.edu 37 2 15679480 15679480 + Splice_Site SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:15679480A>T ENST00000281513.5 - 7 405 c.379_splice c.e7-1 p.V127_splice NBAS_ENST00000441750.1_Splice_Site_p.V127_splice NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 127 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 GTCTTTCGGAACTAGAACAAA 0.398000 5 39 0 0 0.000602214 0 0 CTNND2 1501 broad.mit.edu 37 5 11082811 11082811 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:11082811T>C ENST00000304623.8 - 16 2974 c.2785A>G c.(2785-2787)Atc>Gtc p.I929V CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.I871V|CTNND2_ENST00000503622.1_Missense_Mutation_p.I592V|CTNND2_ENST00000458100.2_Missense_Mutation_p.I496V|CTNND2_ENST00000511377.1_Missense_Mutation_p.I838V NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 929 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 AACATACCGATGAGCTCCTTA 0.507000 137 104 0 0 0.00361006 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995682 140995682 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:140995682T>A ENST00000285879.4 + 4 2778 c.2492T>A c.(2491-2493)gTg>gAg p.V831E MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 831 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGTTCTCCTGTGAGCTCCTTC 0.567000 HNSCC(15;0.026) 131 190 0 0 0.00361006 0 0 CUBN 8029 broad.mit.edu 37 10 16994277 16994277 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:16994277G>C ENST00000377833.4 - 33 5032 c.4967C>G c.(4966-4968)cCa>cGa p.P1656R NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1656 CUB 11. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTACTTACATGGAGGTTGCGC 0.438000 21 36 0 0 0.00152264 0 0 ZFP91 80829 broad.mit.edu 37 11 58384258 58384258 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:58384258G>A ENST00000316059.6 + 10 1343 c.1172G>A c.(1171-1173)cGg>cAg p.R391Q ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R391Q NM_001197051.1|NM_053023.4 NP_001183980.1|NP_444251.1 Q96JP5 ZFP91_HUMAN ZFP91 zinc finger protein 391 activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) GCAGTGCACCGGATGATTCAC 0.428000 13 47 0 0 0.00316338 0 0 DNAH8 1769 broad.mit.edu 37 6 38851748 38851748 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:38851748C>A ENST00000359357.3 + 54 7836 c.7582C>A c.(7582-7584)Cct>Act p.P2528T DNAH8_ENST00000441566.1_Missense_Mutation_p.P2492T|DNAH8_ENST00000449981.2_Missense_Mutation_p.P2745T dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TATTAATATGCCTGTGATTAA 0.333000 12 20 0.00010058 0.000267172 0.00136819 1 0 DTX1 1840 broad.mit.edu 37 12 113515335 113515335 + Missense_Mutation SNP T T G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:113515335T>G ENST00000257600.3 + 2 869 c.366T>G c.(364-366)gaT>gaG p.D122E NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 122 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CGGCCTACGATATGGACATCT 0.622000 8 56 0 0 0.000274275 0 0 SMCHD1 23347 broad.mit.edu 37 18 2770009 2770009 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr18:2770009G>C ENST00000320876.6 + 39 5207 c.4869G>C c.(4867-4869)atG>atC p.M1623I SMCHD1_ENST00000261598.8_Missense_Mutation_p.M1623I|RP11-703M24.5_ENST00000583546.1_RNA NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1623 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 AGCAACAAATGGCAGCACTTA 0.279000 14 35 0 0 0.00400662 0 0 KIRREL3 84623 broad.mit.edu 37 11 126343309 126343309 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:126343309C>T ENST00000525144.2 - 5 735 c.486G>A c.(484-486)gcG>gcA p.A162A KIRREL3_ENST00000525704.2_Silent_p.A162A|KIRREL3_ENST00000529097.2_Silent_p.A162A NM_032531.3 NP_115920.1 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 (Drosophila) 162 Ig-like C2-type 2. hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding p.A162A(2)|p.A121A(1) central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1) 29 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) GAGGGTCCCCCGCACGCAGGC 0.647000 6 7 0 0 0.00198382 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998027 27998027 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:27998027G>A ENST00000441525.1 - 1 1539 c.1425C>T c.(1423-1425)ttC>ttT p.F475F NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 475 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 CCCCCTCCATGAACTGGATGA 0.512000 15 10 0 0 0.00400662 0 0 FKRP 79147 broad.mit.edu 37 19 47259642 47259642 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:47259642G>A ENST00000318584.5 + 4 1232 c.935G>A c.(934-936)cGc>cAc p.R312H FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.R312H NM_001039885.2|NM_024301.4 NP_001034974.1|NP_077277.1 Q9H9S5 FKRP_HUMAN fukutin related protein 312 R -> C (in MDDGC5). extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma transferase activity NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336) TACGAGGAGCGCTGGACGCCC 0.726000 6 4 0 0 0.00198382 0 0 KLK9 284366 broad.mit.edu 37 19 51507039 51507039 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:51507039C>T ENST00000376832.4 - 4 557 c.524G>A c.(523-525)tGt>tAt p.C175Y CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000594211.1_Missense_Mutation_p.C175Y|KLK9_ENST00000250366.6_Missense_Mutation_p.C175Y NM_012315.1 NP_036447.1 Q9UKQ9 KLK9_HUMAN kallikrein-related peptidase 9 175 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1) 7 all_neural(266;0.0652) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) TGCCCAGTGACAGAGTTTGTT 0.567000 21 35 0 0 0.00188189 0 0 MKI67 4288 broad.mit.edu 37 10 129913444 129913444 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:129913444C>T ENST00000368654.3 - 7 1603 c.1228G>A c.(1228-1230)Gac>Aac p.D410N MKI67_ENST00000368653.3_Intron NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 410 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GTGGCAGAGTCAGCTGCATCT 0.438000 32 58 0 0 0.00283554 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857768 9857768 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:9857768G>A ENST00000396573.2 - 14 3942 c.3633C>T c.(3631-3633)tcC>tcT p.S1211S GRIN2A_ENST00000396575.2_Silent_p.S1211S|GRIN2A_ENST00000535259.1_Silent_p.S1054S|GRIN2A_ENST00000562109.1_Silent_p.S1211S|GRIN2A_ENST00000330684.3_Silent_p.S1211S|GRIN2A_ENST00000404927.2_Silent_p.S1211S NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1211 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGCAGTGCGTGGAGTTCTGCC 0.552000 194 158 0 0 0.00361006 0 0 PKHD1 5314 broad.mit.edu 37 6 51484071 51484071 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:51484071C>T ENST00000371117.3 - 67 12308 c.12033G>A c.(12031-12033)ctG>ctA p.L4011L RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.1_RNA NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 4011 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TTTGGCCTGCCAGCTGGTATC 0.567000 30 43 0 0 0.00127121 0 0 SON 6651 broad.mit.edu 37 21 34932435 34932435 + Nonstop_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr21:34932435T>C ENST00000300278.4 + 7 6939 c.6910T>C c.(6910-6912)Tag>Cag p.*2304Q SON_ENST00000290239.6_Intron|AP000304.2_ENST00000439593.1_RNA|SON_ENST00000356577.4_Intron|SON_ENST00000381692.2_Intron NM_032195.1 NP_115571.1 P18583 SON_HUMAN SON DNA binding protein 0 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 ATTTTGGTGGTAGCAAATTTA 0.468000 3 175 0 0 0.000602214 0 0 KLK8 11202 broad.mit.edu 37 19 51503433 51503433 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:51503433G>A ENST00000600767.1 - 5 801 c.312C>T c.(310-312)atC>atT p.I104I KLK8_ENST00000320838.5_Intron|KLK8_ENST00000593490.1_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000291726.7_Silent_p.I104I|KLK8_ENST00000391806.2_Silent_p.I149I O60259 KLK8_HUMAN kallikrein-related peptidase 8 104 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) AGGGGTGTGGGATGGACTGAA 0.522000 54 62 0 0 0.00361006 0 0 STX11 8676 broad.mit.edu 37 6 144507960 144507960 + Nonsense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:144507960G>T ENST00000367568.4 + 2 379 c.196G>T c.(196-198)Gga>Tga p.G66* NM_003764.3 NP_003755.2 O75558 STX11_HUMAN syntaxin 11 66 cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) GAAGCGGCTGGGAAAGCAGAA 0.622000 Familial Hemophagocytic Lymphohistiocytosis 12 18 4.84862e-15 1.6046e-14 0.000978159 1 0 PRKAR1A 5573 broad.mit.edu 37 17 66511665 66511665 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:66511665G>T ENST00000589228.1 + 2 253 c.125G>T c.(124-126)cGa>cTa p.R42L PRKAR1A_ENST00000588188.2_Missense_Mutation_p.R42L|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.R42L|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.R42L|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.R42L|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.R42L NM_001276289.1|NM_001278433.1 NP_001263218.1|NP_001265362.1 P10644 KAP0_HUMAN protein kinase, cAMP-dependent, regulatory, type I, alpha 42 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1) 31 Breast(10;1.64e-13) TGCACTGCTCGACCTGAGAGA 0.473000 """T, Mis, N, F, S""" RET papillary thyroid """myxoma, endocrine, papillary thyroid""" Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of 13 17 4.7546e-09 1.41692e-08 0.00400662 1 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629195 1629195 + Missense_Mutation SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:1629195A>G ENST00000399685.1 - 1 498 c.421T>C c.(421-423)Tgt>Cgt p.C141R NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 141 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 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;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) GATGACCCACAGCCTGAGGAG 0.632000 96 150 0 0 0.00361006 0 0 DHX16 8449 broad.mit.edu 37 6 30627269 30627269 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:30627269T>A ENST00000376442.3 - 12 2182 c.1987A>T c.(1987-1989)Aca>Tca p.T663S DHX16_ENST00000480966.1_5'UTR|DHX16_ENST00000376437.5_Missense_Mutation_p.T182S NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 663 Helicase C-terminal. mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 CCAGGTGGTGTGGGCTGGAAG 0.582000 9 7 0 0 0.000442599 0 0 ILDR2 387597 broad.mit.edu 37 1 166927159 166927159 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:166927159G>T ENST00000271417.3 - 2 281 c.226C>A c.(226-228)Cgg>Agg p.R76R ILDR2_ENST00000529387.1_Silent_p.R76R|ILDR2_ENST00000469934.2_Silent_p.R76R|ILDR2_ENST00000526687.1_Silent_p.R76R|ILDR2_ENST00000525740.1_Silent_p.R76R|ILDR2_ENST00000529071.1_Silent_p.R76R|ILDR2_ENST00000528703.1_Silent_p.R76R NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 76 Ig-like V-type. integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 GATTGGGCCCGGGTAGAGGAC 0.532000 39 71 7.05121e-23 2.50663e-22 0.0025221 1 0 GRM1 2911 broad.mit.edu 37 6 146720539 146720539 + Silent SNP G G C rs114187147 byFrequency TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:146720539G>C ENST00000392299.2 + 8 2834 c.2364G>C c.(2362-2364)gcG>gcC p.A788A GRM1_ENST00000355289.4_Silent_p.A788A|GRM1_ENST00000507907.1_Silent_p.A788A|GRM1_ENST00000282753.1_Silent_p.A788A|GRM1_ENST00000361719.2_Silent_p.A788A|GRM1_ENST00000492807.2_Silent_p.A788A Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 788 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) AATATATCGCGTTCACCATGT 0.488000 48 73 0 0 0.00361006 0 0 CENPI 2491 broad.mit.edu 37 X 100417906 100417906 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:100417906C>T ENST00000372927.1 + 21 2498 c.2221C>T c.(2221-2223)Cat>Tat p.H741Y CENPI_ENST00000423383.1_Missense_Mutation_p.H741Y|CENPI_ENST00000218507.5_Missense_Mutation_p.H727Y NM_006733.2 NP_006724.2 Q92674 CENPI_HUMAN centromere protein I 741 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30 TAGTGTTCATCATTCTTCCAT 0.378000 39 49 0 0 0.000953801 0 0 OR8K3 219473 broad.mit.edu 37 11 56086244 56086244 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:56086244C>A ENST00000312711.1 + 1 462 c.462C>A c.(460-462)ttC>ttA p.F154L NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) ATTGCACATTCATTTCTCTTC 0.418000 45 64 7.05121e-23 2.50663e-22 0.0025221 1 0 KLHL1 57626 broad.mit.edu 37 13 70281880 70281880 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr13:70281880C>A ENST00000377844.4 - 10 2823 c.2064G>T c.(2062-2064)atG>atT p.M688I KLHL1_ENST00000545028.1_Missense_Mutation_p.M495I NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 688 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CATCTCTGGGCATACTCAAAG 0.408000 29 6 3.57733e-08 1.0402e-07 0.00178596 1 0 ZNF273 10793 broad.mit.edu 37 7 64388382 64388382 + Missense_Mutation SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr7:64388382A>G ENST00000476120.1 + 4 747 c.676A>G c.(676-678)Aaa>Gaa p.K226E ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.K161E NM_021148.2 NP_066971.2 Q14593 ZN273_HUMAN zinc finger protein 273 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(55;0.0295)|all_lung(88;0.0691) TCAGCATAAGAAAACTGCTAC 0.313000 36 32 0 0 0.00148497 0 0 NCKAP1 10787 broad.mit.edu 37 2 183818048 183818048 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:183818048C>A ENST00000360982.2 - 22 2941 c.2183G>T c.(2182-2184)gGg>gTg p.G728V NCKAP1_ENST00000361354.3_Missense_Mutation_p.G722V NM_205842.1 NP_995314.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 722 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) CATAGTCATCCCAACAATTGA 0.363000 15 27 4.7546e-09 1.41692e-08 0.00400662 1 0 ACADL 33 broad.mit.edu 37 2 211057583 211057583 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:211057583C>A ENST00000233710.3 - 10 1371 c.1144G>T c.(1144-1146)Gac>Tac p.D382Y AC006994.2_ENST00000412065.1_RNA NM_001608.3 NP_001599.1 P28330 ACADL_HUMAN acyl-CoA dehydrogenase, long chain 382 carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial matrix long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 Renal(323;0.202) Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621) TGTACACAGTCGTAAGCTACA 0.373000 8 23 0.00307968 0.00791729 0.00307968 1 0 SHROOM4 57477 broad.mit.edu 37 X 50377848 50377848 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:50377848G>C ENST00000376020.2 - 4 1250 c.1225C>G c.(1225-1227)Cgc>Ggc p.R409G SHROOM4_ENST00000460112.3_Missense_Mutation_p.R293G|SHROOM4_ENST00000289292.7_Missense_Mutation_p.R409G NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 409 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) GCACTATGGCGATGCCCTGTG 0.572000 10 5 0 0 0.000442599 0 0 RYR2 6262 broad.mit.edu 37 1 237942010 237942010 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:237942010G>T ENST00000366574.2 + 88 12137 c.11820G>T c.(11818-11820)ctG>ctT p.L3940L RYR2_ENST00000542537.1_Silent_p.L3924L|RYR2_ENST00000360064.6_Silent_p.L3946L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3940 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACAGCAGGCTGTGGGATGCTG 0.443000 27 43 3.57733e-08 1.0402e-07 0.00178596 1 0 RBM4 5936 broad.mit.edu 37 11 66407340 66407340 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:66407340G>A ENST00000409406.1 + 1 935 c.158G>A c.(157-159)cGc>cAc p.R53H RBM4_ENST00000532968.1_Missense_Mutation_p.R53H|RBM4_ENST00000310092.7_Missense_Mutation_p.R53H|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000530235.1_Missense_Mutation_p.R53H|RBM4_ENST00000396053.4_Missense_Mutation_p.R53H|RBM4_ENST00000398692.4_Missense_Mutation_p.R53H|RBM4_ENST00000578778.1_Missense_Mutation_p.R53H|RBM4_ENST00000483858.1_Missense_Mutation_p.R53H|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000506523.2_Missense_Mutation_p.R53H|RBM4_ENST00000408993.2_Missense_Mutation_p.R53H|RBM4_ENST00000503028.2_Missense_Mutation_p.R53H RNA binding motif protein 4 p.R53H(1) endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) GATGCCATACGCAACCTGCAC 0.468000 58 116 0 0 0.00361006 0 0 PARP11 57097 broad.mit.edu 37 12 3939117 3939117 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:3939117G>T ENST00000228820.4 - 2 230 c.86C>A c.(85-87)aCg>aAg p.T29K PARP11_ENST00000427057.2_5'UTR|PARP11_ENST00000397096.2_Missense_Mutation_p.T22K|PARP11_ENST00000447133.3_5'UTR NM_020367.4 NP_065100.2 Q9NR21 PAR11_HUMAN poly (ADP-ribose) polymerase family, member 11 22 WWE. NAD+ ADP-ribosyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 17 all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264) GGTATCTGACGTGTCCATGTC 0.413000 54 93 3.07002e-29 1.14576e-28 0.00361006 1 0 INSC 387755 broad.mit.edu 37 11 15260557 15260557 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:15260557G>C ENST00000379554.3 + 11 1517 c.1471G>C c.(1471-1473)Gca>Cca p.A491P INSC_ENST00000379556.3_Missense_Mutation_p.A444P|INSC_ENST00000530161.1_Missense_Mutation_p.A444P|INSC_ENST00000528567.1_Missense_Mutation_p.A444P|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Missense_Mutation_p.A402P|INSC_ENST00000525218.1_Missense_Mutation_p.A402P NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 491 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 GCAGAAAGCTGCAGTGACCCT 0.607000 14 27 0 0 0.00185496 0 0 ERO1L 30001 broad.mit.edu 37 14 53130549 53130549 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:53130549T>C ENST00000395686.3 - 8 869 c.646A>G c.(646-648)Aga>Gga p.R216G NM_014584.1 NP_055399.1 Q96HE7 ERO1A_HUMAN ERO1-like (S. cerevisiae) 216 chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor ERO1L/FERMT2(2) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 Breast(41;0.226) TTTAAAGGTCTTTTAATTGTC 0.318000 2 14 0 0 6.4e-05 0 0 CDH2 1000 broad.mit.edu 37 18 25591835 25591835 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr18:25591835C>A ENST00000269141.3 - 4 944 c.521G>T c.(520-522)gGa>gTa p.G174V CDH2_ENST00000399380.3_Missense_Mutation_p.G143V NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 174 Cadherin 1. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 AGGAAAAGGTCCCCTGGAGTT 0.408000 45 176 2.24722e-20 7.80339e-20 0.00361006 1 0 RUNX1T1 862 broad.mit.edu 37 8 93003886 93003886 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:93003886C>T ENST00000523629.1 - 7 1426 c.972G>A c.(970-972)agG>agA p.R324R RUNX1T1_ENST00000518844.1_Silent_p.R297R|RUNX1T1_ENST00000422361.2_Silent_p.R287R|RUNX1T1_ENST00000436581.2_Silent_p.R335R|RUNX1T1_ENST00000396218.1_Silent_p.R297R|RUNX1T1_ENST00000360348.2_Silent_p.R287R|RUNX1T1_ENST00000265814.3_Silent_p.R324R|RUNX1T1_ENST00000520724.1_Silent_p.R287R NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 324 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TGTTTCTGTCCCTGAGGTCCC 0.512000 51 107 0 0 0.00361006 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45506091 45506091 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:45506091G>A ENST00000359600.5 - 7 1934 c.1729C>T c.(1729-1731)Ctg>Ttg p.L577L NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 577 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) TAGATTTCCAGTTGCCGCTGC 0.502000 46 46 0 0 0.00361006 0 0 DDX18 8886 broad.mit.edu 37 2 118582663 118582663 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:118582663G>T ENST00000263239.2 + 9 1482 c.1354G>T c.(1354-1356)Gtc>Ttc p.V452F NM_006773.3 NP_006764.3 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 452 Helicase C-terminal. ATP binding|ATP-dependent RNA helicase activity|RNA binding p.V452I(1) breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TGATTTGCCCGTCTTGGCCAT 0.388000 48 70 2.13883e-14 6.98179e-14 0.00361006 1 0 ATP7B 540 broad.mit.edu 37 13 52542619 52542619 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr13:52542619C>T ENST00000242839.4 - 4 1824 c.1668G>A c.(1666-1668)atG>atA p.M556I ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.M445I|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.M556I|ATP7B_ENST00000344297.5_Missense_Mutation_p.M556I|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.M556I NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 556 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding p.M556N(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CGTAGTCCTCCATGACTGCTG 0.522000 Wilson disease 29 6 0 0 0.001512 0 0 ZNF764 92595 broad.mit.edu 37 16 30566697 30566697 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:30566697C>T ENST00000395091.2 - 3 1357 c.1042G>A c.(1042-1044)Ggc>Agc p.G348S AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.G349S Q96H86 ZN764_HUMAN zinc finger protein 764 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 AAGCGGCGGCCGCACTGCGGG 0.736000 7 13 0 0 0.00198382 0 0 SLC7A9 11136 broad.mit.edu 37 19 33333131 33333131 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:33333131C>A ENST00000023064.4 - 11 1358 c.1167G>T c.(1165-1167)acG>acT p.T389T SLC7A9_ENST00000587772.1_Silent_p.T389T|SLC7A9_ENST00000590341.1_Silent_p.T389T NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 389 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding p.T389T(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) GTCCTAGAATCGTCAGGCCAT 0.428000 15 42 4.7546e-09 1.41692e-08 0.00400662 1 0 TRIM49C 642612 broad.mit.edu 37 11 89774252 89774252 + Missense_Mutation SNP G G A rs145791878 by1000genomes TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:89774252G>A ENST00000448984.1 + 8 1222 c.893G>A c.(892-894)aGt>aAt p.S298N TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 298 B30.2/SPRY. intracellular zinc ion binding p.S298N(4) endometrium(3)|kidney(1)|lung(4) 8 GAAGCCAACAGTGATATCTTT 0.323000 4 45 0 0 0.00024832 0 0 CNKSR2 22866 broad.mit.edu 37 X 21670529 21670529 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:21670529G>A ENST00000425654.2 + 21 3385 c.2905G>A c.(2905-2907)Gat>Aat p.D969N CNKSR2_ENST00000379510.3_Missense_Mutation_p.D999N NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 999 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 CCTTTTCTTGGATATCTGTCA 0.393000 30 15 0 0 0.00209593 0 0 FSTL5 56884 broad.mit.edu 37 4 162841698 162841698 + Nonsense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:162841698A>T ENST00000306100.5 - 4 703 c.267T>A c.(265-267)tgT>tgA p.C89* FSTL5_ENST00000379164.4_Nonsense_Mutation_p.C88*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.C88*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.C88* NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 89 Kazal-like. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) AAAGGTCCATACAGGCACATT 0.458000 13 5 0 0 0.00185496 0 0 ESPL1 9700 broad.mit.edu 37 12 53683319 53683319 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:53683319G>T ENST00000257934.4 + 22 5145 c.5054G>T c.(5053-5055)gGc>gTc p.G1685V ESPL1_ENST00000552462.1_Missense_Mutation_p.G1685V NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 1685 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 TTGGAATCTGGCCACTTCCCC 0.612000 51 14 5.57489e-27 2.04869e-26 0.00361006 1 0 ASRGL1 80150 broad.mit.edu 37 11 62124564 62124564 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:62124564C>T ENST00000415229.2 + 4 654 c.439C>T c.(439-441)Cgc>Tgc p.R147C ASRGL1_ENST00000528206.1_3'UTR|ASRGL1_ENST00000301776.5_Missense_Mutation_p.R147C|ASRGL1_ENST00000535727.1_Missense_Mutation_p.R19C NM_001083926.1 NP_001077395.1 Q7L266 ASGL1_HUMAN asparaginase like 1 147 asparagine catabolic process via L-aspartate|protein maturation cytoplasm|microtubule cytoskeleton|nucleus N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 7 L-Asparagine(DB00174)|L-Aspartic Acid(DB00128) AAACAAAAAGCGCCTGGAAAA 0.433000 17 28 0 0 0.000958276 0 0 FCGBP 8857 broad.mit.edu 37 19 40421289 40421289 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:40421289G>A ENST00000221347.6 - 5 2639 c.2632C>T c.(2632-2634)Cgg>Tgg p.R878W NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 878 VWFD 2. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCGAAGCGCCGGCCGTCGAAG 0.667000 4 9 0 0 0.00024832 0 0 MRPS17P9 359760 broad.mit.edu 37 X 118513760 118513760 + RNA SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:118513760G>C ENST00000413240.1 - 0 491 GCTAAAGTGAGAGTGATCAGG 0.413000 28 57 0 0 0.000720815 0 0 MAST1 22983 broad.mit.edu 37 19 12958435 12958435 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:12958435C>T ENST00000251472.4 + 6 537 c.498C>T c.(496-498)cgC>cgT p.R166R MAST1_ENST00000591495.1_Silent_p.R162R NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 166 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 GCCCCGGGCGCTCCCCCTCCT 0.627000 OREG0025277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 43 0 0 0.001512 0 0 DYSF 8291 broad.mit.edu 37 2 71909661 71909661 + Splice_Site SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:71909661C>A ENST00000258104.3 + 54 6335 c.6056_splice c.e54-1 p.R2020_splice DYSF_ENST00000409744.1_Splice_Site_p.R2028_splice|DYSF_ENST00000429174.2_Splice_Site_p.R2041_splice|DYSF_ENST00000409582.3_Splice_Site_p.R2058_splice|DYSF_ENST00000413539.2_Splice_Site_p.R2051_splice|DYSF_ENST00000410020.3_Splice_Site_p.R2059_splice|DYSF_ENST00000410041.1_Splice_Site_p.R2038_splice|DYSF_ENST00000409762.1_Splice_Site_p.R2037_splice|DYSF_ENST00000409651.1_Splice_Site_p.R2052_splice|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Splice_Site_p.R2042_splice|DYSF_ENST00000394120.2_Splice_Site_p.R2021_splice NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 2020 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CGCTTCCAGGCGCCCCGACAC 0.567000 34 99 1.71298e-08 5.01748e-08 0.00375469 1 0 ITPR2 3709 broad.mit.edu 37 12 26580957 26580957 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:26580957C>A ENST00000381340.3 - 49 7250 c.6834G>T c.(6832-6834)ctG>ctT p.L2278L NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2278 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) AGAAGAAAAACAGCATAGATG 0.383000 18 66 4.35082e-09 1.30634e-08 0.00152264 1 0 EFEMP2 30008 broad.mit.edu 37 11 65637634 65637634 + Missense_Mutation SNP C C T rs148940436 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:65637634C>T ENST00000307998.6 - 6 795 c.565G>A c.(565-567)Gag>Aag p.E189K EFEMP2_ENST00000528176.1_Missense_Mutation_p.E189K NM_016938.4 NP_058634.4 O95967 FBLN4_HUMAN EGF containing fibulin-like extracellular matrix protein 2 189 EGF-like 3; calcium-binding (Potential). blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 READ - Rectum adenocarcinoma(159;0.169) AAGCCCGGCTCGCACTGGCAG 0.667000 22 31 0 0 0.00395357 0 0 SCN3A 6328 broad.mit.edu 37 2 165947639 165947639 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:165947639G>C ENST00000360093.3 - 28 5515 c.5024C>G c.(5023-5025)tCc>tGc p.S1675C SCN3A_ENST00000409101.3_Missense_Mutation_p.S1626C|SCN3A_ENST00000283254.7_Missense_Mutation_p.S1675C|SCN3A_ENST00000540861.1_Missense_Mutation_p.S158C|AC013463.2_ENST00000431341.1_RNA NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1675 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) GGCAAAGTTGGACATCCCAAA 0.443000 67 99 0 0 0.00361006 0 0 IGHV6-1 28385 broad.mit.edu 37 14 106406028 106406028 + RNA SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:106406028G>A ENST00000390593.2 - 0 80 GCCCAGCACGGGCAGGAAGAT 0.567000 14 10 0 0 0.00316338 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130220538 130220538 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:130220538C>T ENST00000276211.5 + 11 1730 c.1385C>T c.(1384-1386)gCa>gTa p.A462V ARHGAP36_ENST00000370921.1_Missense_Mutation_p.A326V|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.A450V NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 462 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 TTCAGGAGTGCACGCATAAAG 0.453000 37 62 0 0 0.00327116 0 0 FBXO4 26272 broad.mit.edu 37 5 41939628 41939628 + Silent SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:41939628A>G ENST00000281623.3 + 6 1040 c.984A>G c.(982-984)ttA>ttG p.L328L FBXO4_ENST00000509134.1_Intron NM_012176.2 NP_036308.1 Q9UKT5 FBX4_HUMAN F-box protein 4 328 positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2) 27 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) TGTTGGTTTTATCTTGTATTT 0.393000 57 145 0 0 0.00361006 0 0 TAF9B 51616 broad.mit.edu 37 X 77392460 77392460 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:77392460G>T ENST00000341864.5 - 5 527 c.433C>A c.(433-435)Cga>Aga p.R145R NM_015975.4 NP_057059.2 Q9HBM6 TAF9B_HUMAN TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa 145 negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 14 ACACTTAATCGTGGAACTAGT 0.408000 31 48 1.21669e-08 3.58132e-08 0.00327116 1 0 PIWIL3 440822 broad.mit.edu 37 22 25119105 25119105 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr22:25119105C>A ENST00000332271.5 - 19 2792 c.2376G>T c.(2374-2376)agG>agT p.R792S PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.R674S|PIWIL3_ENST00000533313.1_Missense_Mutation_p.R674S NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 792 Piwi. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 ACCATTCATTCCTAGTCAACT 0.338000 26 8 5.45727e-16 1.83132e-15 0.001512 1 0 CTSL3P 392360 broad.mit.edu 37 9 90388441 90388441 + RNA SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:90388441A>G ENST00000354530.2 + 0 307 NR_027917.1 GACCTGGTGGACTGCTCTAGG 0.468000 29 40 0 0 0.000878237 0 0 CSMD3 114788 broad.mit.edu 37 8 113259248 113259248 + Splice_Site SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:113259248C>A ENST00000297405.5 - 64 10467 c.e64+1 CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATAATACTTACGTATGCATTC 0.378000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 17 35 1.15088e-07 3.30636e-07 0.00400662 1 0 PRKD1 5587 broad.mit.edu 37 14 30046533 30046533 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:30046533G>T ENST00000331968.5 - 18 2879 c.2650C>A c.(2650-2652)Ctg>Atg p.L884M PRKD1_ENST00000415220.2_Missense_Mutation_p.L892M NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 884 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) GGATTGATCAGGTGTGTGGGG 0.537000 48 19 7.05377e-20 2.42828e-19 0.00361006 1 0 PDILT 204474 broad.mit.edu 37 16 20386177 20386177 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:20386177G>C ENST00000302451.4 - 5 896 c.648C>G c.(646-648)caC>caG p.H216Q NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 216 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 CAAGGGTGACGTGGAAACGCC 0.438000 56 41 0 0 0.00361006 0 0 HPSE2 60495 broad.mit.edu 37 10 100401623 100401623 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:100401623T>A ENST00000370552.3 - 7 1138 c.1079A>T c.(1078-1080)cAg>cTg p.Q360L HPSE2_ENST00000370546.1_Missense_Mutation_p.Q360L|HPSE2_ENST00000370549.1_Missense_Mutation_p.Q302L|HPSE2_ENST00000404542.1_Missense_Mutation_p.Q248L NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 360 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) TTTCCTAATCTGGTCAGAGAG 0.428000 69 107 0 0 0.00361006 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36217955 36217955 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:36217955G>T ENST00000258840.6 - 10 1477 c.1087C>A c.(1087-1089)Ccc>Acc p.P363T RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.P363T|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P363T|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P363T Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 363 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GACTGTTCGGGTTCTGTAGTT 0.363000 13 13 2.23348e-06 6.17948e-06 0.00400662 1 0 KLHL4 56062 broad.mit.edu 37 X 86773132 86773132 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:86773132G>T ENST00000373119.4 + 1 381 c.236G>T c.(235-237)gGa>gTa p.G79V KLHL4_ENST00000373114.4_Missense_Mutation_p.G79V NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 79 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 CCAGTGCCAGGACCGGCCCCT 0.498000 26 41 1.5548e-18 5.29162e-18 0.000878237 1 0 VTA1 51534 broad.mit.edu 37 6 142487415 142487415 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:142487415G>A ENST00000367630.4 + 2 221 c.163G>A c.(163-165)Gaa>Aaa p.E55K VTA1_ENST00000367621.1_Intron|VTA1_ENST00000452973.2_Intron NM_016485.3 NP_057569.2 Q9NP79 VTA1_HUMAN vesicle (multivesicular body) trafficking 1 55 Interaction with CHMP5.|Interaction with IST1. cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) TAAAACTCCTGAATGTCGCAA 0.299000 21 32 0 0 0.00229938 0 0 PTPRD 5789 broad.mit.edu 37 9 8485777 8485777 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:8485777G>T ENST00000381196.4 - 25 3583 c.3040C>A c.(3040-3042)Ctg>Atg p.L1014M PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.L1014M|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.L1001M|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.L1014M|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.L992M NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1014 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TCCACAGGCAGTGTCCTGAAC 0.448000 TSP Lung(15;0.13) 13 13 2.68362e-12 8.55047e-12 0.00136819 1 0 SPANXN2 494119 broad.mit.edu 37 X 142803752 142803752 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:142803752G>T ENST00000370498.1 - 1 764 c.11C>A c.(10-12)cCg>cAg p.P4Q NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 4 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GCTTGAAGTCGGCTGTTCCAT 0.448000 76 154 1.20873e-29 4.52519e-29 0.00361006 1 0 XIRP2 129446 broad.mit.edu 37 2 168106105 168106105 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:168106105C>A ENST00000409195.1 + 9 8292 c.8203C>A c.(8203-8205)Caa>Aaa p.Q2735K XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q2735K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q2513K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2560 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TCATAAACAGCAATCTGAGAT 0.343000 21 39 2.4624e-09 7.46823e-09 0.00121646 1 0 IFNA6 3443 broad.mit.edu 37 9 21350709 21350709 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:21350709T>C ENST00000380210.1 - 1 668 c.178A>G c.(178-180)Aga>Gga p.R60G NM_021002.2 NP_066282.1 P05013 IFNA6_HUMAN interferon, alpha 6 60 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding large_intestine(3)|lung(7)|skin(1) 11 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) TGGGGAAATCTGAAGTCATGT 0.522000 64 30 0 0 0.00361006 0 0 FRG2B 441581 broad.mit.edu 37 10 135440184 135440184 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:135440184C>A ENST00000443774.1 - 1 112 c.63G>T c.(61-63)caG>caT p.Q21H FRG2B_ENST00000425520.1_Missense_Mutation_p.Q21H Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 21 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) GGAAAGGGGGCTGGTCAGTGG 0.507000 15 170 5.03518e-11 1.57087e-10 0.000958276 1 0 TMC2 117532 broad.mit.edu 37 20 2577848 2577848 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr20:2577848C>T ENST00000358864.1 + 10 1143 c.1128C>T c.(1126-1128)ttC>ttT p.F376F NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 376 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 GTGACAACTTCACATTCAGCT 0.507000 18 33 0 0 0.000566183 0 0 OR4M2 390538 broad.mit.edu 37 15 22368621 22368621 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:22368621G>T ENST00000332663.2 + 1 144 c.46G>T c.(46-48)Ggc>Tgc p.G16C RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TGTTCTCACTGGCCTATCCCA 0.333000 44 135 1.41504e-22 4.98592e-22 0.00285205 1 0 DNAH8 1769 broad.mit.edu 37 6 38919096 38919096 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:38919096C>A ENST00000359357.3 + 80 11854 c.11600C>A c.(11599-11601)tCt>tAt p.S3867Y RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.S3831Y|DNAH8_ENST00000449981.2_Missense_Mutation_p.S4084Y dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ATTTTTAGGTCTTGGTGCCCA 0.338000 39 61 9.62906e-15 3.16044e-14 0.00128727 1 0 EVA1A 84141 broad.mit.edu 37 2 75745218 75745218 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:75745218G>T ENST00000233712.1 - 3 486 c.49C>A c.(49-51)Ctc>Atc p.L17I EVA1A_ENST00000410113.1_Missense_Mutation_p.L17I|EVA1A_ENST00000393913.3_Missense_Mutation_p.L17I|EVA1A_ENST00000410071.1_Missense_Mutation_p.L17I|EVA1A_ENST00000490746.1_5'UTR NM_032181.2 NP_115557.1 eva-1 homolog A (C. elegans) ATGTTGCTGAGCAAAGCCATC 0.602000 40 33 5.48756e-27 2.0228e-26 0.00285205 1 0 DOCK2 1794 broad.mit.edu 37 5 169461490 169461490 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:169461490G>A ENST00000256935.8 + 35 3635 c.3555G>A c.(3553-3555)ctG>ctA p.L1185L DOCK2_ENST00000540750.1_Silent_p.L246L|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.L677L NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1185 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGAGAAGCTGCTGGATTACC 0.587000 23 13 0 0 0.00332997 0 0 MYH8 4626 broad.mit.edu 37 17 10302868 10302868 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:10302868G>C ENST00000403437.2 - 28 3948 c.3854C>G c.(3853-3855)aCa>aGa p.T1285R CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1285 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 ACCCGCTTCTGTCTGCAGGCG 0.473000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 45 16 0 0 0.00361006 0 0 PTPRK 5796 broad.mit.edu 37 6 128385930 128385930 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:128385930T>A ENST00000368227.3 - 13 2533 c.2167A>T c.(2167-2169)Acc>Tcc p.T723S PTPRK_ENST00000368210.3_Missense_Mutation_p.T723S|PTPRK_ENST00000368207.3_Missense_Mutation_p.T723S|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.T723S|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368213.5_Missense_Mutation_p.T723S|PTPRK_ENST00000532331.1_Missense_Mutation_p.T723S|PTPRK_ENST00000368226.4_Missense_Mutation_p.T723S Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 723 cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) ACGCACTGGGTTTTAGTTTCC 0.343000 17 37 0 0 0.00400662 0 0 NTF3 4908 broad.mit.edu 37 12 5604005 5604005 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:5604005G>T ENST00000423158.3 + 2 876 c.664G>T c.(664-666)Gat>Tat p.D222Y NTF3_ENST00000331010.6_Missense_Mutation_p.D209Y|NTF3_ENST00000535299.1_Intron NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 209 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 CAGGGGTATTGATGATAAACA 0.488000 99 46 2.31008e-40 9.01459e-40 0.00361006 1 0 SORCS1 114815 broad.mit.edu 37 10 108923992 108923992 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:108923992G>T ENST00000263054.6 - 1 300 c.293C>A c.(292-294)tCc>tAc p.S98Y SORCS1_ENST00000344440.6_Missense_Mutation_p.S98Y NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 98 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AACCGCCATGGATGCCCCAGT 0.726000 10 18 1.76689e-08 5.16278e-08 0.000442599 1 0 FCRL3 115352 broad.mit.edu 37 1 157665128 157665128 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:157665128T>C ENST00000368184.3 - 8 1693 c.1402A>G c.(1402-1404)Agg>Ggg p.R468G FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.R468G NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 468 Ig-like C2-type 5. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) CCTGTGACCCTGAGACTCACT 0.488000 4 194 0 0 0.00024832 0 0 ALAS2 212 broad.mit.edu 37 X 55042056 55042056 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:55042056G>A ENST00000330807.5 - 8 1260 c.1123C>T c.(1123-1125)Cgt>Tgt p.R375C ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000335854.4_Missense_Mutation_p.R338C|ALAS2_ENST00000396198.3_Missense_Mutation_p.R362C NM_000032.4 NP_000023.2 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 375 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups p.R375C(1)|p.R362C(1) central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) ATTCCATCACGCTCCCCAATC 0.522000 28 15 0 0 0.000878237 0 0 CEP85L 387119 broad.mit.edu 37 6 118802981 118802981 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:118802981T>A ENST00000368491.3 - 8 2327 c.1706A>T c.(1705-1707)cAg>cTg p.Q569L CEP85L_ENST00000368488.5_Missense_Mutation_p.Q572L NM_001042475.2 NP_001035940.1 Q5SZL2 CF204_HUMAN centrosomal protein 85kDa-like 569 centrosome TTTCTTTTTCTGGCATATTAA 0.279000 6 15 0 0 0.00116845 0 0 PRRT2 112476 broad.mit.edu 37 16 29825272 29825272 + Silent SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:29825272C>G ENST00000300797.6 + 2 1071 c.897C>G c.(895-897)ccC>ccG p.P299P PRRT2_ENST00000358758.7_Intron|PRRT2_ENST00000567659.1_Intron|AC009133.20_ENST00000569039.1_RNA Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 0 response to biotic stimulus integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 8 CCATGGGACCCTAGCCCAGGC 0.597000 20 72 0 0 0.00152264 0 0 KIAA1467 57613 broad.mit.edu 37 12 13224192 13224192 + Silent SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:13224192T>A ENST00000197268.8 + 10 1506 c.1386T>A c.(1384-1386)ggT>ggA p.G462G NM_020853.1 NP_065904.1 A2RU67 K1467_HUMAN KIAA1467 462 integral to membrane NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) TTGTGGATGGTGACTCTGGCT 0.478000 90 247 0 0 0.00361006 0 0 APC 324 broad.mit.edu 37 5 112175215 112175215 + Silent SNP A A G rs121913224 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:112175215A>G ENST00000457016.1 + 16 4304 c.3924A>G c.(3922-3924)aaA>aaG p.K1308K APC_ENST00000508376.2_Silent_p.K1308K|APC_ENST00000257430.4_Silent_p.K1308K|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 1308 Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.E1309fs*6(50)|p.E1309fs*4(37)|p.I1307fs*6(12)|p.?(1)|p.E1309fs*5(1)|p.K1192fs*3(1)|p.K1308fs*4(1)|p.I1307fs*13(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CAGAAATAAAAGAAAAGATTG 0.428000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 30 6 0 0 0.001512 0 0 PITPNM3 83394 broad.mit.edu 37 17 6377866 6377866 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:6377866G>T ENST00000262483.8 - 10 1231 c.1144C>A c.(1144-1146)Ctc>Atc p.L382I ACKR6_ENST00000421306.3_Missense_Mutation_p.L346I NM_031220.3 NP_112497.2 ACCTCAGGGAGCTGCGGCCCC 0.667000 9 3 0.000274275 0.000722157 0.000274275 1 0 RB1 5925 broad.mit.edu 37 13 48881512 48881512 + Nonsense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr13:48881512G>A ENST00000267163.4 + 2 372 c.234G>A c.(232-234)tgG>tgA p.W78* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 78 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.W78*(3)|p.?(3) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGTTAACTTGGGAGAAAGTTT 0.323000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 50 15 0 0 0.00361006 0 0 C8A 731 broad.mit.edu 37 1 57349196 57349196 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:57349196G>T ENST00000361249.3 + 6 793 c.697G>T c.(697-699)Gca>Tca p.A233S NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 233 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 TTATGATAATGCAAATGACCT 0.423000 14 45 0.000308642 0.000809088 0.00316338 1 0 DPP10 57628 broad.mit.edu 37 2 116534814 116534814 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:116534814C>A ENST00000410059.1 + 14 1732 c.1252C>A c.(1252-1254)Ctg>Atg p.L418M DPP10_ENST00000409163.1_Missense_Mutation_p.L368M|DPP10_ENST00000393147.2_Missense_Mutation_p.L422M|DPP10_ENST00000310323.8_Missense_Mutation_p.L411M NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 418 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 CGTGCGGCATCTGACATCAGG 0.378000 9 20 3.86212e-05 0.000103508 0.000673444 1 0 UNC5D 137970 broad.mit.edu 37 8 35542267 35542267 + Splice_Site SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:35542267G>T ENST00000453357.2 + 6 960 c.904_splice c.e6+1 p.V302_splice UNC5D_ENST00000404895.2_Splice_Site_p.V307_splice|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000416672.1_Splice_Site_p.V307_splice Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 307 TSP type-1 1. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TCTTTGTCCTGGTGAGATATA 0.463000 24 44 6.36457e-07 1.78566e-06 0.00395357 1 0 TECTA 7007 broad.mit.edu 37 11 121032985 121032985 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:121032985G>T ENST00000392793.1 + 16 5449 c.5178G>T c.(5176-5178)aaG>aaT p.K1726N TECTA_ENST00000264037.2_Missense_Mutation_p.K1726N O75443 TECTA_HUMAN tectorin alpha 1726 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 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) ACAGCCACAAGAAGTTCCAGC 0.592000 21 37 1.00905e-13 3.25832e-13 0.00121646 1 0 TPTE 7179 broad.mit.edu 37 21 10969098 10969098 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr21:10969098G>T ENST00000361285.4 - 7 479 c.150C>A c.(148-150)gcC>gcA p.A50A TPTE_ENST00000342420.5_Intron|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Intron NM_199261.2 NP_954870.2 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 50 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTGACACCCGGGCTGCTCCTT 0.463000 16 101 3.41278e-10 1.05374e-09 0.000566183 1 0 NALCN 259232 broad.mit.edu 37 13 102047697 102047697 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr13:102047697C>A ENST00000251127.6 - 3 209 c.128G>T c.(127-129)cGc>cTc p.R43L NALCN_ENST00000376200.5_Missense_Mutation_p.R43L|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.R43L NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 43 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GGCACAGATGCGCAGCAAAGA 0.433000 39 11 2.35958e-20 8.16989e-20 0.00222228 1 0 RAPGEF2 9693 broad.mit.edu 37 4 160273853 160273853 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:160273853C>T ENST00000264431.4 + 21 3818 c.3399C>T c.(3397-3399)ccC>ccT p.P1133P NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 1133 Ser-rich. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) CTTTGGCTCCCAGTGGTACTG 0.378000 22 12 0 0 0.00278032 0 0 TTC13 79573 broad.mit.edu 37 1 231047215 231047215 + Splice_Site SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:231047215C>T ENST00000366661.4 - 20 2317 c.e20+1 TTC13_ENST00000366662.4_Splice_Site|TTC13_ENST00000414259.1_Splice_Site NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) ATATTACTTACCTGGATCCTC 0.313000 8 14 0 0 0.000274275 0 0 KCNA3 3738 broad.mit.edu 37 1 111216927 111216927 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:111216927T>C ENST00000369769.2 - 1 728 c.505A>G c.(505-507)Atc>Gtc p.I169V NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 169 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GGCCGGCGGATGCGGCCCCCG 0.632000 48 68 0 0 0.00361006 0 0 SPTBN5 51332 broad.mit.edu 37 15 42159161 42159161 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:42159161G>A ENST00000320955.6 - 36 6703 c.6476C>T c.(6475-6477)aCc>aTc p.T2159I NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 2159 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) TCTGACCTGGGTTGCGGCCTG 0.647000 6 4 0 0 0.00198382 0 0 ENPP4 22875 broad.mit.edu 37 6 46108938 46108938 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:46108938C>T ENST00000321037.4 + 3 1206 c.976C>T c.(976-978)Cta>Tta p.L326L NM_014936.4 NP_055751.1 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 326 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 GACAATTGTGCTAAATGAATC 0.338000 19 19 0 0 0.000958276 0 0 BLOC1S5-TXNDC5 100526836 broad.mit.edu 37 6 7884653 7884653 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:7884653G>A ENST00000539054.1 - 9 898 c.899C>T c.(898-900)gCg>gTg p.A300V BLOC1S5-TXNDC5_ENST00000604490.1_Missense_Mutation_p.A264V|TXNDC5_ENST00000379757.4_Missense_Mutation_p.A372V|TXNDC5_ENST00000473453.1_Missense_Mutation_p.A264V CTTGACCCCCGCCAGACCAGG 0.488000 41 104 0 0 0.00148497 0 0 FLI1 2313 broad.mit.edu 37 11 128628193 128628193 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:128628193C>T ENST00000344954.6 + 2 491 c.103C>T c.(103-105)Cgg>Tgg p.R35W FLI1_ENST00000534087.1_Missense_Mutation_p.R35W|FLI1_ENST00000525560.1_5'UTR|FLI1_ENST00000429175.2_Missense_Mutation_p.R68W|FLI1_ENST00000527767.2_3'UTR Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor 68 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R68W(1) EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) CAACGTCAAGCGGGAGTATGA 0.587000 T EWSR1 Ewing sarcoma 8 17 0 0 0.000442599 0 0 UBR5 51366 broad.mit.edu 37 8 103297762 103297762 + Nonsense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:103297762G>C ENST00000520539.1 - 39 6069 c.5463C>G c.(5461-5463)taC>taG p.Y1821* UBR5_ENST00000521922.1_Nonsense_Mutation_p.Y1815*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.Y1821* NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 1821 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CTGCATCTTGGTAAGTCAATT 0.373000 11 69 0 0 0.000978159 0 0 SYN2 6854 broad.mit.edu 37 3 12225013 12225013 + RNA SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:12225013A>G ENST00000432424.2 + 0 1682 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 GGGGAGGGGAAAACAGACCCT 0.448000 7 2 0 0 0.00198382 0 0 GABRA2 2555 broad.mit.edu 37 4 46252554 46252554 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:46252554G>C ENST00000510861.1 - 10 1300 c.1127C>G c.(1126-1128)cCg>cGg p.P376R GABRA2_ENST00000540012.1_Missense_Mutation_p.P381R|GABRA2_ENST00000381620.4_Missense_Mutation_p.P376R|GABRA2_ENST00000514090.1_Missense_Mutation_p.P376R|GABRA2_ENST00000507069.1_Missense_Mutation_p.P436R|GABRA2_ENST00000356504.1_Missense_Mutation_p.P376R P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 376 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGAAAGATTCGGGGCATAATT 0.418000 60 35 0 0 0.00361006 0 0 SLC36A4 120103 broad.mit.edu 37 11 92895879 92895879 + Missense_Mutation SNP C C A rs76610702 byFrequency TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:92895879C>A ENST00000326402.4 - 9 1160 c.1030G>T c.(1030-1032)Gat>Tat p.D344Y SLC36A4_ENST00000529184.1_Missense_Mutation_p.D209Y NM_152313.2 NP_689526.2 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid symporter), member 4 344 L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TACCATACATCTTGGGGAAGA 0.303000 21 23 2.4624e-09 7.46823e-09 0.00121646 1 0 SNHG14 104472715 broad.mit.edu 37 15 25463671 25463671 + RNA SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:25463671C>A ENST00000424208.1 + 0 2954 SNHG14_ENST00000453082.2_RNA NR_003305.1 GAAGCTCCAGCCCTTCCTGGT 0.602000 29 59 2.48779e-11 7.78167e-11 0.000878237 1 0 LRGUK 136332 broad.mit.edu 37 7 133884049 133884049 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr7:133884049G>C ENST00000285928.2 + 14 1692 c.1623G>C c.(1621-1623)gaG>gaC p.E541D NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 541 Guanylate kinase-like. ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 AAAAATATGAGGGATATTTGC 0.363000 39 25 0 0 0.00148497 0 0 MUC15 143662 broad.mit.edu 37 11 26587419 26587419 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:26587419G>C ENST00000436318.2 - 2 201 c.68C>G c.(67-69)cCa>cGa p.P23R ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.P23R|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.P23R|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000455601.2_5'UTR|MUC15_ENST00000281268.8_Missense_Mutation_p.P23R Q8N387 MUC15_HUMAN mucin 15, cell surface associated 0 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 AGGCTTCTTTGGTATTGGTTT 0.289000 19 29 0 0 0.00152264 0 0 RXFP3 51289 broad.mit.edu 37 5 33937868 33937868 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:33937868C>A ENST00000330120.3 + 1 1378 c.1023C>A c.(1021-1023)ccC>ccA p.P341P NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 341 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 GTTGGCTGCCCAACCAGGCGC 0.602000 36 70 6.90743e-12 2.1834e-11 0.00375469 1 0 AQP8 343 broad.mit.edu 37 16 25238439 25238439 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:25238439C>T ENST00000219660.5 + 5 778 c.653C>T c.(652-654)gCg>gTg p.A218V AQP8_ENST00000566125.1_Missense_Mutation_p.A212V NM_001169.2 NP_001160.2 O94778 AQP8_HUMAN aquaporin 8 218 cellular response to cAMP integral to plasma membrane water channel activity NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 16 GBM - Glioblastoma multiforme(48;0.044) TTTGGACCTGCGGTGGTGGCC 0.607000 32 84 0 0 0.00178596 0 0 SPEF2 79925 broad.mit.edu 37 5 35654677 35654677 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:35654677C>A ENST00000440995.2 + 7 827 c.827C>A c.(826-828)aCa>aAa p.T276K SPEF2_ENST00000282469.6_Missense_Mutation_p.T276K|SPEF2_ENST00000356031.3_Missense_Mutation_p.T276K|SPEF2_ENST00000509059.1_Missense_Mutation_p.T276K Q9C093 SPEF2_HUMAN sperm flagellar 2 276 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCAGGCCAGACAACCACCGAT 0.358000 21 42 5.35356e-11 1.66586e-10 0.00278032 1 0 KRTAP10-3 386682 broad.mit.edu 37 21 45978296 45978296 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr21:45978296C>T ENST00000391620.1 - 1 347 c.303G>A c.(301-303)gtG>gtA p.V101V TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198696.2 NP_941969.2 P60369 KR103_HUMAN keratin associated protein 10-3 101 18 X 5 AA repeats of C-C-X(3). keratin filament kidney(1)|lung(4)|prostate(1)|skin(1) 7 agcagacaggcacgcagcagg 0.647000 71 126 0 0 0.00361006 0 0 SDHAP1 255812 broad.mit.edu 37 3 195698264 195698264 + RNA SNP T T C rs12485654 by1000genomes TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:195698264T>C ENST00000427841.1 - 0 1608 NR_003264.2 TTTGTCAACATTCGTGACAGA 0.413000 3 100 0 0 0.00198382 0 0 LAMA2 3908 broad.mit.edu 37 6 129419489 129419489 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:129419489T>C ENST00000421865.2 + 4 617 c.568T>C c.(568-570)Tca>Cca p.S190P NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 190 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGGGCCACCGTCATATGCCAA 0.443000 31 40 0 0 0.001512 0 0 PFKL 5211 broad.mit.edu 37 21 45732884 45732884 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr21:45732884C>T ENST00000403390.1 + 6 592 c.592C>T c.(592-594)Cgg>Tgg p.R198W PFKL_ENST00000349048.4_Missense_Mutation_p.R151W|PFKL_ENST00000496824.1_3'UTR P17858 K6PL_HUMAN phosphofructokinase, liver 151 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) GACTACAGCCCGGACCTACTC 0.647000 18 37 0 0 0.000566183 0 0 RLIM 51132 broad.mit.edu 37 X 73811508 73811508 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:73811508G>C ENST00000332687.6 - 4 1860 c.1642C>G c.(1642-1644)Ctc>Gtc p.L548V RLIM_ENST00000349225.2_Missense_Mutation_p.L548V NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 548 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCTTTGGTGAGTCCTCTAGGT 0.413000 17 30 0 0 0.00074312 0 0 SLC17A9 63910 broad.mit.edu 37 20 61594696 61594696 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr20:61594696C>T ENST00000370349.3 + 7 886 c.682C>T c.(682-684)Cgg>Tgg p.R228W SLC17A9_ENST00000370351.4_Missense_Mutation_p.R234W|SLC17A9_ENST00000488738.1_3'UTR Q9BYT1 S17A9_HUMAN solute carrier family 17 (vesicular nucleotide transporter), member 9 234 N -> S (in dbSNP:rs2427463). exocytosis|transmembrane transport integral to membrane transporter activity endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 CCCCTGGAGACGGCTCTTCCG 0.647000 16 19 0 0 0.000958276 0 0 EPB41L3 23136 broad.mit.edu 37 18 5415942 5415942 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr18:5415942A>T ENST00000341928.2 - 13 2282 c.1942T>A c.(1942-1944)Ttc>Atc p.F648I EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.F648I|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000540638.2_Intron NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 648 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 GGCACTGAGAAGGAGGCAGAC 0.577000 29 45 0 0 0.000878237 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140788253 140788253 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:140788253A>T ENST00000520790.1 + 1 484 c.484A>T c.(484-486)Ata>Tta p.I162L PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATCCTGATATAAACATAAA 0.363000 12 5 0 0 0.000978159 0 0 COL11A1 1301 broad.mit.edu 37 1 103444277 103444277 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:103444277G>T ENST00000358392.2 - 35 3094 c.2777C>A c.(2776-2778)cCt>cAt p.P926H COL11A1_ENST00000512756.1_Missense_Mutation_p.P798H|COL11A1_ENST00000370096.3_Missense_Mutation_p.P914H|COL11A1_ENST00000353414.4_Missense_Mutation_p.P875H NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 914 Triple-helical region. Missing (in STL2; overlapping phenotype with Marshall syndrome). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTCACCTGGAGGGCCAGGAGG 0.378000 55 99 8.4772e-36 3.25503e-35 0.00361006 1 0 OR8K5 219453 broad.mit.edu 37 11 55927296 55927296 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:55927296C>A ENST00000313447.1 - 1 497 c.498G>T c.(496-498)ttG>ttT p.L166F NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) CACAGAAGGTCAATGTAAAAA 0.383000 21 55 2.27731e-05 6.15849e-05 0.00188189 1 0 KIAA2022 340533 broad.mit.edu 37 X 73963237 73963237 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:73963237G>T ENST00000373468.1 - 3 1806 c.1155C>A c.(1153-1155)ggC>ggA p.G385G KIAA2022_ENST00000055682.5_Silent_p.G385G Q5QGS0 K2022_HUMAN KIAA2022 385 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 CTTCCTCTTTGCCTTTCTTCT 0.458000 52 153 1.4374e-25 5.2182e-25 0.00361006 1 0 ZSCAN21 7589 broad.mit.edu 37 7 99654694 99654694 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr7:99654694G>A ENST00000292450.4 + 2 229 c.65G>A c.(64-66)gGg>gAg p.G22E ZSCAN21_ENST00000543588.1_Missense_Mutation_p.G22E|ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.G22E NM_145914.2 NP_666019.1 Q9Y5A6 ZSC21_HUMAN zinc finger and SCAN domain containing 21 22 positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1) 21 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) GAGCAGGTGGGGCCTCTGATG 0.537000 79 44 0 0 0.00361006 0 0 C3orf67 200844 broad.mit.edu 37 3 58817503 58817503 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:58817503T>C ENST00000295966.7 - 13 1834 c.1331A>G c.(1330-1332)cAt>cGt p.H444R RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.H570R|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA NM_198463.2 NP_940865.1 Q6ZVT6 CC067_HUMAN chromosome 3 open reading frame 67 452 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1) 19 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) ACTCAGGCCATGGGAGGTCCC 0.542000 27 13 0 0 0.000720815 0 0 OSTN 344901 broad.mit.edu 37 3 190936696 190936696 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:190936696G>A ENST00000445281.1 + 3 330 c.263G>A c.(262-264)gGg>gAg p.G88E OSTN_ENST00000339051.1_Missense_Mutation_p.G88E|OSTN-AS1_ENST00000430375.1_RNA P61366 OSTN_HUMAN osteocrin 88 cell differentiation|multicellular organismal development|ossification hormone activity kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2) 13 all_cancers(143;6.79e-09)|Ovarian(172;0.103) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000254) TCTGGTTTTGGGTCTCCCCTT 0.398000 23 26 0 0 0.001512 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129037215 129037215 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:129037215A>T ENST00000274487.4 + 20 3216 c.3071A>T c.(3070-3072)aAg>aTg p.K1024M ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 1024 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) ATTGGGCCCAAGCCCGCCTCT 0.577000 18 17 0 0 0.00152264 0 0 ASB1 51665 broad.mit.edu 37 2 239344391 239344391 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:239344391C>T ENST00000264607.4 + 3 478 c.231C>T c.(229-231)ctC>ctT p.L77L ASB1_ENST00000409297.1_Intron|ASB1_ENST00000469885.1_3'UTR NM_001040445.1 NP_001035535.1 Q9Y576 ASB1_HUMAN ankyrin repeat and SOCS box containing 1 77 intracellular signal transduction|negative regulation of cytokine biosynthetic process breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644) GTGGCTGGCTCCCCTGCACAC 0.632000 15 23 0 0 0.00316338 0 0 PFAS 5198 broad.mit.edu 37 17 8168408 8168408 + Missense_Mutation SNP A A T rs146379979 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:8168408A>T ENST00000314666.6 + 18 2378 c.2245A>T c.(2245-2247)Acc>Tcc p.T749S PFAS_ENST00000545834.1_Missense_Mutation_p.T325S NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 749 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CGAAGCCCTCACCAACCTGGT 0.622000 16 5 0 0 0.000566183 0 0 TRIM68 55128 broad.mit.edu 37 11 4621792 4621792 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:4621792T>C ENST00000300747.5 - 7 1461 c.1172A>G c.(1171-1173)tAt>tGt p.Y391C NM_018073.6 NP_060543.5 Q6AZZ1 TRI68_HUMAN tripartite motif containing 68 391 B30.2/SPRY. protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) CCAGAATCCATAGTGGGGGGA 0.572000 18 35 0 0 0.00121646 0 0 GPRASP1 9737 broad.mit.edu 37 X 101912157 101912157 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:101912157C>G ENST00000537097.1 + 6 4129 c.3316C>G c.(3316-3318)Cag>Gag p.Q1106E RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.Q1106E|GPRASP1_ENST00000415986.1_Missense_Mutation_p.Q1106E|GPRASP1_ENST00000444152.1_Missense_Mutation_p.Q1106E NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 1106 OPRD1-binding. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TCAGCCTGATCAGCCTAGTCC 0.488000 62 120 0 0 0.00361006 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12853591 12853591 + Missense_Mutation SNP C C A rs149382773 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:12853591C>A ENST00000332296.7 + 2 318 c.215C>A c.(214-216)aCg>aAg p.T72K NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 72 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTGATGAAGACGCTTCATTTG 0.547000 59 97 1.88935e-48 7.42113e-48 0.00361006 1 0 UNC45B 146862 broad.mit.edu 37 17 33486400 33486400 + Missense_Mutation SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:33486400A>G ENST00000268876.5 + 8 912 c.815A>G c.(814-816)aAg>aGg p.K272R UNC45B_ENST00000433649.1_Missense_Mutation_p.K272R|UNC45B_ENST00000394570.2_Missense_Mutation_p.K272R|UNC45B_ENST00000378449.1_Missense_Mutation_p.K272R|UNC45B_ENST00000591048.1_Missense_Mutation_p.K272R NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 272 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) TCAGACACCAAGAAGGACCTG 0.507000 130 233 0 0 0.00361006 0 0 ZNF618 114991 broad.mit.edu 37 9 116764924 116764924 + Nonsense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:116764924G>T ENST00000288466.7 + 5 535 c.436G>T c.(436-438)Gag>Tag p.E146* ZNF618_ENST00000374126.5_Nonsense_Mutation_p.E178* NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 CACCTCAGGGGAGGGAGCCTC 0.612000 27 81 0.000147802 0.00039174 0.00106085 1 0 CDH9 1007 broad.mit.edu 37 5 26903843 26903843 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:26903843G>A ENST00000231021.4 - 6 1074 c.902C>T c.(901-903)gCa>gTa p.A301V NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 301 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CTCCATTTCTGCATTTTCCCC 0.413000 84 176 0 0 0.00361006 0 0 FNDC1 84624 broad.mit.edu 37 6 159677661 159677661 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:159677661G>T ENST00000297267.9 + 18 5372 c.5172G>T c.(5170-5172)acG>acT p.T1724T FNDC1_ENST00000340366.6_Silent_p.T1661T NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1724 Fibronectin type-III 5. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) AGCCCAACACGAGGTACGATG 0.423000 53 72 1.38658e-30 5.22364e-30 0.00361006 1 0 FAM47C 442444 broad.mit.edu 37 X 37027150 37027150 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:37027150C>A ENST00000358047.3 + 1 719 c.667C>A c.(667-669)Cgc>Agc p.R223S NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 223 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GTCCCATCTCCGCCCACAGCC 0.657000 35 23 1.36239e-07 3.90465e-07 0.00327116 1 0 LCN1 3933 broad.mit.edu 37 9 138415086 138415086 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:138415086G>C ENST00000263598.2 + 3 290 c.230G>C c.(229-231)gGc>gCc p.G77A LCN1_ENST00000371781.3_Missense_Mutation_p.G77A NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3 NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1 P31025 LCN1_HUMAN lipocalin 1 77 proteolysis|response to stimulus|sensory perception of taste extracellular region cysteine-type endopeptidase inhibitor activity|transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5) 13 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155) AGGATAAGTGGCCGGTGCCAG 0.637000 11 33 0 0 0.000978159 0 0 XIRP1 165904 broad.mit.edu 37 3 39229740 39229740 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:39229740C>A ENST00000340369.3 - 2 1425 c.1197G>T c.(1195-1197)gtG>gtT p.V399V XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.V399V NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 399 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GTAGGTGACCCACTTGGACCT 0.592000 60 53 1.27862e-28 4.74237e-28 0.00361006 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110489571 110489571 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:110489571C>T ENST00000378402.5 + 53 9139 c.9035C>T c.(9034-9036)cCt>cTt p.P3012L NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3012 immune response cytosol|extracellular space|integral to membrane receptor activity p.P3014H(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GATTGCTTTCCTGTACATCCG 0.408000 HNSCC(38;0.096) 23 33 0 0 0.00332997 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44219990 44219990 + Nonsense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:44219990A>T ENST00000371554.1 + 10 1931 c.1717A>T c.(1717-1719)Aag>Tag p.K573* HSP90AB1_ENST00000371646.5_Nonsense_Mutation_p.K573*|HSP90AB1_ENST00000353801.3_Nonsense_Mutation_p.K573* P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 573 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AATCTTAGATAAGAAGGTTGA 0.443000 19 31 0 0 0.000958276 0 0 PCGF5 84333 broad.mit.edu 37 10 93011162 93011162 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:93011162C>G ENST00000336126.5 + 6 671 c.439C>G c.(439-441)Cga>Gga p.R147G PCGF5_ENST00000543648.1_Missense_Mutation_p.R147G NM_001257101.1|NM_032373.4 NP_001244030.1|NP_115749.2 Q86SE9 PCGF5_HUMAN polycomb group ring finger 5 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|PcG protein complex zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6) 12 AGATTGTTTACGAAATAATGG 0.343000 16 30 0 0 0.00316338 0 0 DBX1 120237 broad.mit.edu 37 11 20178181 20178181 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:20178181G>A ENST00000227256.3 - 4 727 c.728C>T c.(727-729)tCc>tTc p.S243F DBX1_ENST00000524983.2_Intron NM_001029865.2 NP_001025036.2 A6NMT0 DBX1_HUMAN developing brain homeobox 1 223 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 GGCTCCGGGGGACGCACGGGG 0.627000 24 43 0 0 0.00395357 0 0 SMR3A 26952 broad.mit.edu 37 4 71232484 71232484 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:71232484C>A ENST00000226460.4 + 3 274 c.178C>A c.(178-180)Cca>Aca p.P60T NM_012390.3 NP_036522.3 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3A 60 Pro-rich. extracellular region endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) ACCCTATGGTCCAGGGAGATT 0.557000 17 90 2.35188e-11 7.3758e-11 0.00074312 1 0 FBXW7 55294 broad.mit.edu 37 4 153247288 153247288 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:153247288C>A ENST00000281708.4 - 10 2743 c.1514G>T c.(1513-1515)cGc>cTc p.R505L FBXW7_ENST00000603548.1_Missense_Mutation_p.R505L|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387L|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425L|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329L|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505L NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 505 R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R505L(7)|p.R505H(5)|p.R266L(1)|p.R266H(1)|p.?(1)|p.R505P(1)|p.R425H(1)|p.R425L(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TTGAACACAGCGGACTGCTGC 0.468000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 37 26 4.11147e-13 1.32407e-12 0.00375469 1 0 SLC4A5 57835 broad.mit.edu 37 2 74452068 74452068 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:74452068C>A ENST00000394019.2 - 28 3542 c.3145G>T c.(3145-3147)Gac>Tac p.D1049Y RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R989L|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.D968Y|SLC4A5_ENST00000377634.4_Missense_Mutation_p.D1065Y|SLC4A5_ENST00000359484.4_Missense_Mutation_p.D947Y|SLC4A5_ENST00000358683.4_Missense_Mutation_p.D947Y|SLC4A5_ENST00000357822.5_Missense_Mutation_p.D1065Y|SLC4A5_ENST00000346834.4_Missense_Mutation_p.D968Y NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 1065 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CAGGCCAGGTCGTGCTGGGAA 0.473000 36 95 2.04263e-09 6.24254e-09 0.00428921 1 0 PLXNA4 91584 broad.mit.edu 37 7 131831391 131831391 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr7:131831391G>C ENST00000359827.3 - 28 5895 c.4933C>G c.(4933-4935)Ctg>Gtg p.L1645V PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1645V Q9HCM2 PLXA4_HUMAN plexin A4 1645 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CCACTCTCCAGGTCAGGAGTG 0.577000 85 50 0 0 0.00361006 0 0 SPAG9 9043 broad.mit.edu 37 17 49074019 49074019 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:49074019C>T ENST00000262013.7 - 16 2083 c.1875G>A c.(1873-1875)aaG>aaA p.K625K SPAG9_ENST00000505279.1_Silent_p.K615K|SPAG9_ENST00000357122.4_Silent_p.K611K|SPAG9_ENST00000510283.1_Silent_p.K468K NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 625 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) ACTGCTCTCTCTTTTGTTCTC 0.393000 12 32 0 0 0.00244969 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 3 68 0 0 0.000602214 0 0 GPHN 10243 broad.mit.edu 37 14 67389587 67389587 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:67389587G>C ENST00000478722.1 + 7 1782 c.661G>C c.(661-663)Gac>Cac p.D221H GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.D234H|GPHN_ENST00000459628.1_Missense_Mutation_p.D203H|GPHN_ENST00000315266.5_Missense_Mutation_p.D221H|GPHN_ENST00000305960.9_Missense_Mutation_p.D190H NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin 221 Interaction with GABARAP (By similarity). Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) AGAGAAGAAAGACAGTGGTGT 0.483000 T MLL AL 38 28 0 0 0.00428921 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560256 44560256 + Silent SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr18:44560256T>C ENST00000332567.4 - 1 1732 c.1380A>G c.(1378-1380)tcA>tcG p.S460S KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 460 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CCCAGAGCTCTGAGAAGACAT 0.592000 103 72 0 0 0.00361006 0 0 KIAA1024 23251 broad.mit.edu 37 15 79750339 79750339 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:79750339G>T ENST00000305428.3 + 2 1925 c.1850G>T c.(1849-1851)cGt>cTt p.R617L NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 617 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 TCGGGTGTCCGTGATGAAATC 0.488000 32 54 8.88839e-20 3.05109e-19 0.00209593 1 0 HCRTR2 3062 broad.mit.edu 37 6 55120039 55120039 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:55120039C>T ENST00000370862.3 + 3 844 c.508C>T c.(508-510)Cgt>Tgt p.R170C NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 170 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AAAGCGGGCCCGTAACAGCAT 0.502000 32 48 0 0 0.00283554 0 0 SELE 6401 broad.mit.edu 37 1 169699747 169699747 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:169699747T>C ENST00000333360.7 - 5 680 c.541A>G c.(541-543)Aca>Gca p.T181A SELE_ENST00000367776.1_Missense_Mutation_p.T181A|SELE_ENST00000367782.4_Missense_Mutation_p.T181A|SELE_ENST00000367775.1_Intron|SELE_ENST00000367774.1_Missense_Mutation_p.T181A|SELE_ENST00000367779.4_Missense_Mutation_p.T181A|SELE_ENST00000367777.1_Missense_Mutation_p.T181A|SELE_ENST00000367780.4_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.T181A|C1orf112_ENST00000498289.1_Intron NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 181 Sushi 1. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) TCCAGGGCTGTACAGTTCACA 0.433000 22 29 0 0 0.00188189 0 0 C6orf165 154313 broad.mit.edu 37 6 88127994 88127994 + Silent SNP C C A rs140079201 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:88127994C>A ENST00000507897.1 + 7 783 c.700C>A c.(700-702)Cgg>Agg p.R234R C6ORF165_ENST00000369562.4_Silent_p.R234R Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 234 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) TGAGACTGCCCGGAGCCAGGT 0.488000 22 37 7.45023e-12 2.34878e-11 0.00152264 1 0 SPTA1 6708 broad.mit.edu 37 1 158595968 158595968 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:158595968G>T ENST00000368148.3 - 42 6058 c.5878C>A c.(5878-5880)Ctt>Att p.L1960I SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.L1957I NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1960 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AAGTCACCAAGGTCTGCACCA 0.418000 16 29 3.57192e-18 1.21223e-17 0.00074312 1 0 CTNNA2 1496 broad.mit.edu 37 2 80846291 80846291 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:80846291A>T ENST00000402739.4 + 17 2517 c.2512A>T c.(2512-2514)Acc>Tcc p.T838S CTNNA2_ENST00000343114.3_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 838 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 TCAACTTTCTACCCACCTCCC 0.463000 8 6 0 0 0.000442599 0 0 OTUD7B 56957 broad.mit.edu 37 1 149916498 149916498 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:149916498C>T ENST00000369135.3 - 12 2084 c.1790G>A c.(1789-1791)aGc>aAc p.S597N NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B 597 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) CCTCAGAATGCTCAGGCTCTG 0.557000 21 131 0 0 0.00152264 0 0 TUBB8 347688 broad.mit.edu 37 10 93792 93792 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:93792C>A ENST00000447903.2 - 4 639 c.324G>T c.(322-324)gtG>gtT p.V108V TUBB8_ENST00000309812.4_Silent_p.V180V|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_3'UTR Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 180 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) TGTAGGGCTCCACCACGGTGT 0.517000 21 71 1.06801e-11 3.35821e-11 0.00178596 1 0 FBXW2 26190 broad.mit.edu 37 9 123550177 123550177 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:123550177C>T ENST00000373926.3 - 3 547 c.360G>A c.(358-360)aaG>aaA p.K120K FBXW2_ENST00000340778.5_Silent_p.K120K NM_012164.3 NP_036296.2 Q9UKT8 FBXW2_HUMAN F-box and WD repeat domain containing 2 120 proteolysis protein binding|ubiquitin-protein ligase activity ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 4 AATAAACCTTCTTCCAGTGCA 0.443000 45 55 0 0 0.00361006 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137513 40137513 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:40137513G>T ENST00000278198.2 - 2 2293 c.330C>A c.(328-330)aaC>aaA p.N110K LRRC4C_ENST00000530763.1_Missense_Mutation_p.N110K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.N110K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.N110K Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 110 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TTCTGATATGGTTCCTACTCA 0.453000 24 27 1.9806e-07 5.64942e-07 0.00229938 1 0 RBP3 5949 broad.mit.edu 37 10 48388466 48388466 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:48388466C>A ENST00000224600.4 - 1 2525 c.2412G>T c.(2410-2412)gaG>gaT p.E804D NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 804 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GCTGGCGGGGCTCTGCCTCAA 0.627000 8 8 0.00307968 0.00791729 0.00307968 1 0 KAT7 11143 broad.mit.edu 37 17 47886541 47886541 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:47886541G>A ENST00000503935.2 + 6 1292 c.256G>A c.(256-258)Gac>Aac p.D86N KAT7_ENST00000424009.2_Intron|KAT7_ENST00000435742.2_Intron|KAT7_ENST00000259021.4_Missense_Mutation_p.D242N|KAT7_ENST00000454930.2_Missense_Mutation_p.D103N|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000509773.1_Intron O95251 MYST2_HUMAN K(lysine) acetyltransferase 7 242 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CAGGCAAGATGACAACAACAG 0.473000 15 41 0 0 0.00316338 0 0 FN1 2335 broad.mit.edu 37 2 216248799 216248799 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:216248799G>T ENST00000354785.4 - 30 5207 c.4838C>A c.(4837-4839)aCt>aAt p.T1613N FN1_ENST00000446046.1_Missense_Mutation_p.T1522N|FN1_ENST00000345488.5_Missense_Mutation_p.T1522N|FN1_ENST00000443816.1_Missense_Mutation_p.T1522N|FN1_ENST00000432072.2_Missense_Mutation_p.T1613N|FN1_ENST00000357867.4_Missense_Mutation_p.T1522N|FN1_ENST00000346544.3_Missense_Mutation_p.T1522N|FN1_ENST00000323926.6_Missense_Mutation_p.T1613N|FN1_ENST00000421182.1_Missense_Mutation_p.T1522N|FN1_ENST00000336916.4_Missense_Mutation_p.T1522N|FN1_ENST00000359671.1_Missense_Mutation_p.T1522N|FN1_ENST00000356005.4_Missense_Mutation_p.T1522N|FN1_ENST00000357009.2_Missense_Mutation_p.T1522N P02751 FINC_HUMAN fibronectin 1 1616 Fibronectin type-III 11. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCCACGGCCAGTGACAGCATA 0.498000 37 57 4.46736e-08 1.29586e-07 0.00111076 1 0 ATMIN 23300 broad.mit.edu 37 16 81069786 81069786 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:81069786A>T ENST00000299575.4 + 1 335 c.311A>T c.(310-312)cAc>cTc p.H104L NM_015251.2 NP_056066.2 O43313 ATMIN_HUMAN ATM interactor 104 response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 CTCAACATGCACCTAGTCAAG 0.741000 12 4 0 0 0.00244969 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130215646 130215646 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:130215646G>T ENST00000276211.5 + 2 352 c.7G>T c.(7-9)Ggc>Tgc p.G3C ARHGAP36_ENST00000370922.1_Intron NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 3 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 CAGAATGGGTGGCTGCATTCC 0.517000 51 74 4.01344e-20 1.38562e-19 0.00361006 1 0 ZBTB33 10009 broad.mit.edu 37 X 119388366 119388366 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:119388366A>T ENST00000326624.2 + 2 1324 c.1096A>T c.(1096-1098)Agt>Tgt p.S366C ZBTB33_ENST00000557385.1_Missense_Mutation_p.S366C NM_006777.3 NP_006768.1 Q86T24 KAISO_HUMAN zinc finger and BTB domain containing 33 366 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 26 CCAAAATACCAGTTTTGATGG 0.373000 51 96 0 0 0.00361006 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532119 84532119 + RNA SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:84532119T>A ENST00000527857.1 + 0 2141 NR_026851.1 CCAGCGCAGATGGGGCCTGCC 0.488000 16 34 0 0 0.00400662 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 4 94 0 0 0.00024832 0 0 KNG1 3827 broad.mit.edu 37 3 186450367 186450367 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:186450367G>T ENST00000265023.4 + 7 1046 c.834G>T c.(832-834)ctG>ctT p.L278L RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Silent_p.L278L|KNG1_ENST00000447445.1_Silent_p.L242L NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 278 Cystatin 3. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) GCCCAGAGCTGGAGGAGACAC 0.443000 10 110 4.68919e-08 1.35692e-07 0.000673444 1 0 OR10C1 442194 broad.mit.edu 37 6 29408338 29408338 + Silent SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:29408338T>A ENST00000444197.2 + 1 1256 c.546T>A c.(544-546)ccT>ccA p.P182P OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 AGATCCAGCCTGTCCTGCAGC 0.582000 62 168 0 0 0.00361006 0 0 IGSF6 10261 broad.mit.edu 37 16 21654459 21654459 + Missense_Mutation SNP C C A rs146422757 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:21654459C>A ENST00000268389.4 - 5 663 c.602G>T c.(601-603)cGt>cTt p.R201L METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron NM_005849.3 NP_005840.2 O95976 IGSF6_HUMAN immunoglobulin superfamily, member 6 201 cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(48;0.066) CTGAAAAATACGCCGAGCACT 0.328000 64 55 2.37532e-16 7.99335e-16 0.00361006 1 0 CRHR2 1395 broad.mit.edu 37 7 30701809 30701809 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr7:30701809C>A ENST00000471646.1 - 7 1138 c.721G>T c.(721-723)Gcc>Tcc p.A241S CRHR2_ENST00000506074.2_Missense_Mutation_p.A241S|CRHR2_ENST00000348438.4_Missense_Mutation_p.A268S|CRHR2_ENST00000341843.4_Missense_Mutation_p.A227S NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 241 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 ATGGCCCAGGCGACGATGATG 0.562000 35 52 5.71845e-15 1.88725e-14 0.00111076 1 0 TUBGCP2 10844 broad.mit.edu 37 10 135106020 135106020 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:135106020G>A ENST00000368563.2 - 8 1553 c.1197C>T c.(1195-1197)atC>atT p.I399I TUBGCP2_ENST00000543663.1_Silent_p.I427I|TUBGCP2_ENST00000252936.3_Silent_p.I399I|TUBGCP2_ENST00000417178.2_Silent_p.I269I NM_001256617.1|NM_006659.3 NP_001243546.1|NP_006650.1 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 399 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) GGTCGTGGATGATGCCCCTGT 0.632000 8 19 0 0 0.000274275 0 0 AOX1 316 broad.mit.edu 37 2 201476122 201476122 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:201476122T>C ENST00000374700.2 + 13 1410 c.1169T>C c.(1168-1170)aTt>aCt p.I390T AOX1_ENST00000485106.1_Intron NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 390 FAD-binding PCMH-type. inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) AAACGACAGATTCCTTTAAAT 0.398000 68 102 0 0 0.00361006 0 0 KNSTRN 90417 broad.mit.edu 37 15 40675055 40675055 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:40675055C>A ENST00000416151.2 + 1 134 c.19C>A c.(19-21)Ccg>Acg p.P7T KNSTRN_ENST00000448395.2_Missense_Mutation_p.P7T|KNSTRN_ENST00000249776.8_Missense_Mutation_p.P7T NM_001142761.1 NP_001136233.1 kinetochore-localized astrin/SPAG5 binding protein TCCCGAAGCCCCGCCCCTGGA 0.592000 10 13 2.17888e-05 5.90564e-05 0.000442599 1 0 ABCA8 10351 broad.mit.edu 37 17 66914238 66914238 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:66914238C>T ENST00000269080.2 - 14 2014 c.1877G>A c.(1876-1878)cGc>cAc p.R626H ABCA8_ENST00000430352.2_Missense_Mutation_p.R666H|ABCA8_ENST00000586539.1_Missense_Mutation_p.R666H NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 626 ABC transporter 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GAGGATCACGCGGTCTGTTTT 0.458000 22 39 0 0 0.00332997 0 0 FUT9 10690 broad.mit.edu 37 6 96651555 96651555 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:96651555C>G ENST00000302103.5 + 3 850 c.524C>G c.(523-525)aCa>aGa p.T175R NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 175 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) ACGGTAAGCACAAATCCCTTC 0.463000 18 38 0 0 0.000958276 0 0 CT47B1 643311 broad.mit.edu 37 X 120008943 120008943 + Silent SNP C C A rs139114591 by1000genomes TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:120008943C>A ENST00000371311.3 - 1 836 c.582G>T c.(580-582)gcG>gcT p.A194A NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 194 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 CCTGGACCGACGCAGCCTCCT 0.706000 38 69 8.73648e-17 2.94825e-16 0.00428921 1 0 ODAM 54959 broad.mit.edu 37 4 71068636 71068636 + Splice_Site SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:71068636T>C ENST00000396094.2 + 9 858 c.e9+2 NM_017855.3 NP_060325.3 A1E959 ODAM_HUMAN odontogenic, ameloblast asssociated biomineral tissue development|odontogenesis of dentine-containing tooth fibril NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2) 20 GAAGAGAAGGTAGAGTCATGA 0.353000 13 11 0 0 0.00316338 0 0 RP1 6101 broad.mit.edu 37 8 55538955 55538955 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:55538955C>T ENST00000220676.1 + 4 2661 c.2513C>T c.(2512-2514)tCt>tTt p.S838F NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 838 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GCACCGCAATCTCAAGCAGAA 0.313000 22 32 0 0 0.00229938 0 0 ITIH3 3699 broad.mit.edu 37 3 52829637 52829637 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:52829637G>T ENST00000449956.2 + 2 118 c.112G>T c.(112-114)Ggg>Tgg p.G38W ITIH3_ENST00000416872.2_Missense_Mutation_p.G38W NM_002217.3 NP_002208.3 Q06033 ITIH3_HUMAN inter-alpha-trypsin inhibitor heavy chain 3 38 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CCTCCCGGAAGGGGTAAGAAC 0.567000 5 10 0.000157383 0.000415298 0.00307968 1 0 ZW10 9183 broad.mit.edu 37 11 113614600 113614600 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:113614600T>C ENST00000200135.3 - 10 1579 c.1435A>G c.(1435-1437)Atc>Gtc p.I479V NM_004724.3 NP_004715.1 O43264 ZW10_HUMAN zw10 kinetochore protein 479 cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) GACTCACTGATACGGCATGTG 0.413000 30 56 0 0 0.001512 0 0 CACNA1B 774 broad.mit.edu 37 9 140901299 140901299 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:140901299G>A ENST00000371372.1 + 16 2200 c.2055G>A c.(2053-2055)tcG>tcA p.S685S CACNA1B_ENST00000371357.1_Silent_p.S686S|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Silent_p.S685S|CACNA1B_ENST00000371355.4_Silent_p.S686S|CACNA1B_ENST00000371363.1_Silent_p.S685S NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 685 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GCATGTTCTCGTCCTTTTACT 0.552000 6 17 0 0 0.00198382 0 0 CYP27A1 1593 broad.mit.edu 37 2 219677281 219677281 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:219677281G>T ENST00000258415.4 + 4 1080 c.653G>T c.(652-654)tGc>tTc p.C218F NM_000784.3 NP_000775.1 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, polypeptide 1 218 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1) 26 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) TCAGCTATTTGCTACATCCTG 0.547000 118 155 7.7863e-71 3.06842e-70 0.00361006 1 0 GPR158 57512 broad.mit.edu 37 10 25886754 25886754 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:25886754G>T ENST00000376351.3 + 11 2558 c.2199G>T c.(2197-2199)atG>atT p.M733I GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 733 integral to membrane|plasma membrane G-protein coupled receptor activity p.M733I(1) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GAAAGAAGATGATCACAAACA 0.448000 34 68 3.66082e-28 1.3536e-27 0.00111076 1 0 BCLAF1 9774 broad.mit.edu 37 6 136597402 136597402 + Nonsense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:136597402T>A ENST00000531224.1 - 5 1513 c.1261A>T c.(1261-1263)Aaa>Taa p.K421* BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.K419*|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.K419*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.K419*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.K421* NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 421 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GCAAAACTTTTACCCTGATCT 0.423000 97 225 0 0 0.00361006 0 0 KCNH7 90134 broad.mit.edu 37 2 163292054 163292054 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:163292054G>T ENST00000332142.5 - 8 1707 c.1608C>A c.(1606-1608)cgC>cgA p.R536R KCNH7_ENST00000328032.4_Silent_p.R529R NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 536 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TCCTGGCCACGCGCACAAGAC 0.453000 18 24 3.52763e-06 9.6929e-06 0.000566183 1 0 ATP1A2 477 broad.mit.edu 37 1 160097392 160097392 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:160097392C>T ENST00000361216.3 + 8 888 c.799C>T c.(799-801)Cgc>Tgc p.R267C ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.R267C NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 267 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GGTGATGGGCCGCATAGCTAC 0.592000 31 49 0 0 0.001512 0 0 SERPINA9 327657 broad.mit.edu 37 14 94933495 94933495 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:94933495C>A ENST00000337425.5 - 3 981 c.907G>T c.(907-909)Gcc>Tcc p.A303S SERPINA9_ENST00000298845.7_Missense_Mutation_p.A203S|SERPINA9_ENST00000424550.2_Missense_Mutation_p.A154S|SERPINA9_ENST00000380365.3_Missense_Mutation_p.A285S|SERPINA9_ENST00000448305.2_Missense_Mutation_p.A205S|SERPINA9_ENST00000546329.1_Missense_Mutation_p.A267S NM_175739.3 NP_783866.2 Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 285 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) GCTGACAAGGCCTGTTCCAGT 0.537000 19 20 8.00594e-06 2.18476e-05 0.000958276 1 0 LTB4R 1241 broad.mit.edu 37 14 24785367 24785367 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:24785367G>T ENST00000396789.4 + 2 2235 c.510G>T c.(508-510)ccG>ccT p.P170P LTB4R_ENST00000345363.3_Silent_p.P170P|LTB4R_ENST00000396782.2_Silent_p.P170P NM_181657.3 NP_858043.1 Q15722 LT4R1_HUMAN leukotriene B4 receptor 170 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(265;0.018) TGTGCTTCCCGCGGTACCCCA 0.622000 39 25 4.0492e-12 1.28672e-11 0.00148497 1 0 MTUS2 23281 broad.mit.edu 37 13 29898764 29898764 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr13:29898764G>T ENST00000431530.3 + 5 2909 c.2851G>T c.(2851-2853)Gct>Tct p.A951S NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 941 Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity p.A951T(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 AAAGAAAGATGCTCAGAAAGA 0.378000 6 0 2.0095e-06 5.57263e-06 0.00198382 1 0 OR8K5 219453 broad.mit.edu 37 11 55927362 55927362 + Silent SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:55927362C>G ENST00000313447.1 - 1 431 c.432G>C c.(430-432)ctG>ctC p.L144L NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L144L(1) large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) GAATGCCCACCAGTACATGAC 0.403000 32 71 0 0 0.00283554 0 0 RASEF 158158 broad.mit.edu 37 9 85627405 85627405 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:85627405C>T ENST00000376447.3 - 5 1047 c.787G>A c.(787-789)Gta>Ata p.V263I NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 263 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 TTTTGACTTACGCGTTTTGAT 0.333000 5 14 0 0 0.000602214 0 0 COL11A1 1301 broad.mit.edu 37 1 103461595 103461595 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:103461595G>A ENST00000358392.2 - 27 2598 c.2281C>T c.(2281-2283)Ccc>Tcc p.P761S COL11A1_ENST00000512756.1_Missense_Mutation_p.P633S|COL11A1_ENST00000370096.3_Missense_Mutation_p.P749S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P710S NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 749 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GGACCAGGGGGACCCTGAAAT 0.363000 28 46 0 0 0.001512 0 0 VWA7 80737 broad.mit.edu 37 6 31743183 31743183 + Nonsense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:31743183C>T ENST00000375686.3 - 4 774 c.537G>A c.(535-537)tgG>tgA p.W179* VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Nonsense_Mutation_p.W179*|VWA7_ENST00000447450.1_Nonsense_Mutation_p.W179* NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 179 extracellular region CCAGCTCCACCCAGTTGCTAT 0.587000 35 20 0 0 0.00283554 0 0 COL5A2 1290 broad.mit.edu 37 2 189909940 189909940 + Nonsense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:189909940C>A ENST00000374866.3 - 47 3602 c.3328G>T c.(3328-3330)Gga>Tga p.G1110* NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 1110 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCAGGTGGTCCTATAGGACCC 0.323000 12 17 2.62699e-14 8.52881e-14 0.00316338 1 0 DMD 1756 broad.mit.edu 37 X 32361265 32361265 + Nonsense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:32361265C>A ENST00000357033.4 - 40 5931 c.5725G>T c.(5725-5727)Gaa>Taa p.E1909* DMD_ENST00000378677.2_Nonsense_Mutation_p.E1905* NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1909 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ATTTTCCTTTCATCTCTGGGC 0.343000 25 12 7.07758e-08 2.04312e-07 0.000720815 1 0 MUC16 94025 broad.mit.edu 37 19 9064360 9064360 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:9064360C>T ENST00000397910.4 - 3 23289 c.23086G>A c.(23086-23088)Gtg>Atg p.V7696M NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7698 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.V7696M(2)|p.V3329M(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTGAGGTCACGGCAGGTAAA 0.582000 18 49 0 0 0.00152264 0 0 ZNF630 57232 broad.mit.edu 37 X 47918863 47918863 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:47918863T>A ENST00000276054.4 - 5 1530 c.596A>T c.(595-597)aAg>aTg p.K199M ZNF630_ENST00000409324.3_Missense_Mutation_p.K323M|ZNF630_ENST00000442455.3_Missense_Mutation_p.K309M|ZNF630-AS1_ENST00000436124.1_RNA Q2M218 ZN630_HUMAN zinc finger protein 630 323 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11)|ovary(1) 19 TCTTCCATACTTAGTACATTC 0.433000 26 7 0 0 0.00395357 0 0 GRIA4 2893 broad.mit.edu 37 11 105795455 105795455 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:105795455C>T ENST00000393127.2 + 12 2253 c.1807C>T c.(1807-1809)Ctg>Ttg p.L603L GRIA4_ENST00000282499.5_Silent_p.L603L|GRIA4_ENST00000525187.1_Silent_p.L603L|GRIA4_ENST00000530497.1_Silent_p.L603L NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 603 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) CTGGTTTTCCCTGGGTGCTTT 0.463000 25 29 0 0 0.00395357 0 0 FAM210A 125228 broad.mit.edu 37 18 13681843 13681843 + Silent SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr18:13681843T>A ENST00000322247.3 - 3 621 c.234A>T c.(232-234)ccA>ccT p.P78P FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Silent_p.P78P NM_001098801.1 NP_001092271.1 Q96ND0 CR019_HUMAN family with sequence similarity 210, member A 78 integral to membrane GAAGGACTCCTGGTTGGGGTG 0.488000 59 108 0 0 0.00361006 0 0 LONRF1 91694 broad.mit.edu 37 8 12586411 12586411 + Splice_Site SNP T T G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:12586411T>G ENST00000398246.3 - 10 2078 c.2010_splice c.e10+1 p.K670_splice LONRF1_ENST00000533751.1_Splice_Site_p.K313_splice|LONRF1_ENST00000525024.1_Splice_Site_p.K96_splice NM_152271.3 NP_689484.3 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 1 670 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 READ - Rectum adenocarcinoma(644;0.236) TTAAAATACCTTAACATCTTC 0.403000 28 47 0 0 0.000878237 0 0 PRAMEF18 391003 broad.mit.edu 37 1 13474788 13474788 + Frame_Shift_Del DEL G G - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:13474788delG ENST00000376126.2 - 3 1340 c.1341delC c.(1339-1341)ccfs p.P447fs NM_001099850.1 NP_001093320.1 Q5VWM3 PRA18_HUMAN PRAME family member 18 447 lung(2)|ovary(1) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGATCCTGTTGGGCTCCCTTA 0.562 3 6 --- --- --- --- AK5 26289 broad.mit.edu 37 1 77752660 77752660 + Frame_Shift_Del DEL A A - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:77752660delA ENST00000344720.5 + 2 1043 c.17delA c.(16-18)gafs p.E6fs AK5_ENST00000354567.2_Frame_Shift_Del_p.E32fs|AK5_ENST00000317704.4_3'UTR NM_012093.3 NP_036225.2 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 32 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 TCTAAGCCCGAAGATCCAGTA 0.338 32 36 --- --- --- --- OR11L1 391189 broad.mit.edu 37 1 248004498 248004499 + Frame_Shift_Ins INS - - A rs147783465 byFrequency TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:248004498_248004499insA ENST00000355784.2 - 1 755_756 c.700_701insT c.(700-702)gagfs p.E234fs NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R234Q(1) NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGTCTTTCTCCGGCCAGAGGTG 0.505 21 65 --- --- --- --- PTH2R 5746 broad.mit.edu 37 2 209308142 209308142 + Frame_Shift_Del DEL C C - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:209308142delC ENST00000272847.2 + 6 792 c.579delC c.(577-579)agfs p.S193fs PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 193 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) GAGCTACAAGCATCTTTGTCA 0.398 24 33 --- --- --- --- FN1 2335 broad.mit.edu 37 2 216271041 216271041 + Frame_Shift_Del DEL G G - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:216271041delG ENST00000354785.4 - 19 3275 c.2906delC c.(2905-2907)ctfs p.P969fs FN1_ENST00000446046.1_Frame_Shift_Del_p.P969fs|FN1_ENST00000345488.5_Frame_Shift_Del_p.P969fs|FN1_ENST00000336916.4_Frame_Shift_Del_p.P969fs|FN1_ENST00000346544.3_Frame_Shift_Del_p.P969fs|FN1_ENST00000359671.1_Frame_Shift_Del_p.P969fs|FN1_ENST00000323926.6_Frame_Shift_Del_p.P969fs|FN1_ENST00000357867.4_Frame_Shift_Del_p.P969fs|FN1_ENST00000357009.2_Frame_Shift_Del_p.P969fs|FN1_ENST00000421182.1_Frame_Shift_Del_p.P969fs|FN1_ENST00000432072.2_Frame_Shift_Del_p.P969fs|FN1_ENST00000356005.4_Frame_Shift_Del_p.P969fs|FN1_ENST00000443816.1_Frame_Shift_Del_p.P969fs P02751 FINC_HUMAN fibronectin 1 969 Fibronectin type-III 4. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTGACCCCAGGGGACAGCCC 0.567 27 51 --- --- --- --- PDHA2 5161 broad.mit.edu 37 4 96762121 96762121 + Frame_Shift_Del DEL G G - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:96762121delG ENST00000295266.4 + 1 883 c.820delG c.(820-822)gafs p.G274fs NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 274 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CTGTAGATCTGGAAAGGGGCC 0.458 39 17 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187557372 187557372 + Frame_Shift_Del DEL A A - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:187557372delA ENST00000441802.2 - 6 4199 c.3990delT c.(3988-3990)aafs p.N1330fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1330 Cadherin 11. N -> S (in dbSNP:rs874111). actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GAGGGCGACCATTGTCAACTG 0.428 HNSCC(5;0.00058) 24 12 --- --- --- --- NSD1 64324 broad.mit.edu 37 5 176675268 176675269 + Frame_Shift_Ins INS - - A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:176675268_176675269insA ENST00000439151.2 + 11 4629_4630 c.4584_4585insA c.(4582-4587)tcaaaafs p.SK1528fs NSD1_ENST00000361032.4_Frame_Shift_Ins_p.SK1425fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.SK1259fs|NSD1_ENST00000354179.4_Frame_Shift_Ins_p.SK1259fs NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1528 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TGCCTGCCTCTAAAAAAATGCA 0.495 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 10 10 --- --- --- --- DSP 1832 broad.mit.edu 37 6 7568065 7568066 + Frame_Shift_Ins INS - - C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:7568065_7568066insC ENST00000379802.3 + 10 1533_1534 c.1192_1193insC c.(1192-1194)catfs p.H398fs DSP_ENST00000418664.2_Frame_Shift_Ins_p.H398fs NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 398 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GCTCCAGGACTCCATCAGGAAG 0.515 16 51 --- --- --- --- BAI3 577 broad.mit.edu 37 6 70092801 70092802 + Frame_Shift_Ins INS - - G rs148278852 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:70092801_70092802insG ENST00000370598.1 + 31 5175_5176 c.4354_4355insG c.(4354-4356)ggafs p.G1452fs BAI3_ENST00000238918.8_Frame_Shift_Ins_p.G658fs|BAI3_ENST00000546190.1_Frame_Shift_Ins_p.G416fs NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1452 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.R1452W(1) NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GGACAGATTTCGGGATATACCA 0.386 10 20 --- --- --- --- MAS1 4142 broad.mit.edu 37 6 160328115 160328115 + Frame_Shift_Del DEL C C - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:160328115delC ENST00000252660.4 + 1 142 c.128delC c.(127-129)tcfs p.S43fs NM_002377.2 NP_002368.1 P04201 MAS_HUMAN MAS1 oncogene 43 anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) ATGAGCATCTCCCCAGTGGGG 0.522 44 71 --- --- --- --- LOC440173 440173 broad.mit.edu 37 9 89626452 89626453 + RNA INS - - T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:89626452_89626453insT ENST00000602579.1 - 0 256 NR_027471.1 tttgttttttgttttttgtttt 0.450 4 7 --- --- --- --- MDGA2 161357 broad.mit.edu 37 14 47342647 47342647 + Frame_Shift_Del DEL C C - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:47342647delC ENST00000426342.1 - 14 2593 c.1847delG c.(1846-1848)gafs p.G616fs MDGA2_ENST00000399232.2_Frame_Shift_Del_p.G914fs|MDGA2_ENST00000439988.2_Frame_Shift_Del_p.G845fs|MDGA2_ENST00000399222.3_Frame_Shift_Del_p.G47fs|MDGA2_ENST00000357362.3_Frame_Shift_Del_p.G616fs NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 845 Ig-like 6. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TATATGTTGTCCATACATGTG 0.343 37 21 --- --- --- --- LOC101927079 101927079 broad.mit.edu 37 15 22333261 22333261 + RNA DEL C C - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:22333261delC ENST00000558896.1 + 0 583 CTATGTTGAGCCCCCTCATCT 0.398 18 49 --- --- --- --- FAN1 22909 broad.mit.edu 37 15 31214472 31214473 + Frame_Shift_Del DEL AG AG - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:31214472_31214473delAG ENST00000362065.4 + 8 2378_2379 c.2087_2088delAG c.(2086-2088)cfs p.Q696fs FAN1_ENST00000568145.1_3'UTR NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 696 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 CTTTTGTCTCAGAGAATTTATT 0.426 Direct reversal of damage 39 48 --- --- --- --- COPS2 9318 broad.mit.edu 37 15 49420932 49420946 + In_Frame_Del DEL ACATCAGCTACATCT ACATCAGCTACATCT - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:49420932_49420946delACATCAGCTACATCT ENST00000388901.5 - 12 1213_1227 c.1140_1154delAGATGTAGCTGATGT c.(1138-1155)atg>at p.IDVADV380del COPS2_ENST00000299259.6_In_Frame_Del_p.IDVADV387del|COPS2_ENST00000542928.1_In_Frame_Del_p.IDVADV316del NM_001143887.1|NM_004236.3 NP_001137359.1|NP_004227.1 P61201 CSN2_HUMAN COP9 signalosome subunit 2 380 PCI. cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2) 18 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) CAAGCTCTCCACATCAGCTACATCTATGTTTAACT 0.284 14 125 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 20 379 --- --- --- --- ZNF99 7652 broad.mit.edu 37 19 22941167 22941167 + Frame_Shift_Del DEL C C - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:22941167delC ENST00000397104.3 - 5 1270 c.1271delG c.(1270-1272)gcfs p.G424fs ZNF99_ENST00000596209.1_Frame_Shift_Del_p.G515fs zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AAAAGCTTTGCCACATTCTTC 0.338 29 33 --- --- --- --- TBC1D10A 83874 broad.mit.edu 37 22 30688801 30688803 + In_Frame_Del DEL CGC CGC - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr22:30688801_30688803delCGC ENST00000215790.7 - 9 1252_1254 c.1088_1090delGCG c.(1087-1092)caa>c p.RE363del TBC1D10A_ENST00000403362.1_In_Frame_Del_p.RE275del|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_In_Frame_Del_p.RE370del NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 363 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 ATGAGGTGTTCGCGCTCAATCTG 0.635 24 12 --- --- --- --- ZMYM3 9203 broad.mit.edu 37 X 70468637 70468638 + Frame_Shift_Ins INS - - G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:70468637_70468638insG ENST00000373998.1 - 9 2332_2333 c.1635_1636insC c.(1633-1638)ccgcagfs p.Q546fs ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Frame_Shift_Ins_p.Q546fs|ZMYM3_ENST00000373988.1_Frame_Shift_Ins_p.Q548fs|ZMYM3_ENST00000353904.2_Frame_Shift_Ins_p.Q546fs|ZMYM3_ENST00000373984.3_Frame_Shift_Ins_p.Q548fs NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 546 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) CAGAAGCTGCAGGGTCGGGGAG 0.559 7 12 --- --- --- ---