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 OR10R2 343406 broad.mit.edu 37 1 158449980 158449980 + Missense_Mutation SNP C C G TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr1:158449980C>G ENST00000368152.1 + 1 313 c.313C>G c.(313-315)Cta>Gta p.L105V RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L105V(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) GCTCATCAATCTACTTTCTGT 0.438 6 603 --- --- --- --- FMOD 2331 broad.mit.edu 37 1 203316790 203316790 + Silent SNP C C T TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr1:203316790C>T ENST00000354955.4 - 2 1072 c.609G>A c.(607-609)acG>acA p.T203T FMOD_ENST00000493296.1_Intron NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 203 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix p.T203T(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) GGTACAAGGCCGTGAGGTTCT 0.582 73 242 --- --- --- --- ITGB6 3694 broad.mit.edu 37 2 160994176 160994176 + Missense_Mutation SNP C C A TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr2:160994176C>A ENST00000283249.2 - 10 1666 c.1429G>T c.(1429-1431)Ggg>Tgg p.G477W ITGB6_ENST00000409967.2_Missense_Mutation_p.G477W|ITGB6_ENST00000409872.1_Missense_Mutation_p.G477W|ITGB6_ENST00000428609.2_Missense_Mutation_p.G435W NM_001282353.1|NM_001282354.1|NM_001282388.1 NP_001269282.1|NP_001269283.1|NP_001269317.1 P18564 ITB6_HUMAN integrin, beta 6 477 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity p.G477W(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 GCACACACCCCACACTGGAAA 0.572 4 92 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179444120 179444120 + Splice_Site SNP A A T TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr2:179444120A>T ENST00000589042.1 - 320 67861 c.67637T>A c.(67636-67638)gTg>gAg p.V22546E TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.V13606E|TTN_ENST00000460472.2_Splice_Site_p.V13481E|TTN_ENST00000342992.6_Splice_Site_p.V19978E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Splice_Site_p.V20905E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Splice_Site_p.V13673E|TTN-AS1_ENST00000590932.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20905 Fibronectin type-III 63. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V13481E(2)|p.V19976E(1)|p.V13606E(1)|p.V19978E(1)|p.V13673E(1) 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) ATCAGGAGCCACTGTAAAATA 0.378 4 76 --- --- --- --- AOX1 316 broad.mit.edu 37 2 201468741 201468741 + Splice_Site SNP C C A TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr2:201468741C>A ENST00000374700.2 + 8 831 c.590C>A c.(589-591)aCa>aAa p.T197K NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 197 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 p.T197K(1) 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) TCTTTTTAGACAAGTCCAAAA 0.383 10 146 --- --- --- --- PIKFYVE 200576 broad.mit.edu 37 2 209190217 209190217 + Missense_Mutation SNP G G T rs139157818 byFrequency TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr2:209190217G>T ENST00000264380.4 + 20 2840 c.2682G>T c.(2680-2682)gaG>gaT p.E894D NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 894 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding p.E894D(2) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 CCCTGATTGAGGGACGAGGGC 0.493 5 262 --- --- --- --- LNX1 84708 broad.mit.edu 37 4 54424152 54424152 + Translation_Start_Site SNP C C A TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr4:54424152C>A ENST00000306888.2 - 0 232 FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Intron NM_032622.2 NP_116011.2 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) AGTGTGCTGCCTTCTCCCTGG 0.527 3 49 --- --- --- --- C4orf21 55345 broad.mit.edu 37 4 113468559 113468559 + Missense_Mutation SNP T T C TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr4:113468559T>C ENST00000505019.1 - 24 5605 c.5480A>G c.(5479-5481)gAg>gGg p.E1827G NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 0 p.E1827G(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) CTTTTCACACTCAAACCTAAA 0.348 4 54 --- --- --- --- HIST1H2BN 8341 broad.mit.edu 37 6 27806476 27806476 + Missense_Mutation SNP A A C TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr6:27806476A>C ENST00000606613.1 + 1 98 c.37A>C c.(37-39)Aaa>Caa p.K13Q HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.K13Q Q99877 H2B1N_HUMAN histone cluster 1, H2bn 13 nucleosome assembly nucleosome|nucleus DNA binding p.K13Q(1) central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1) 8 TGCCCCGAAGAAAGGCTCCAA 0.552 5 201 --- --- --- --- BAI3 577 broad.mit.edu 37 6 69348738 69348738 + Missense_Mutation SNP G G T TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr6:69348738G>T ENST00000370598.1 + 3 992 c.171G>T c.(169-171)tgG>tgT p.W57C NM_001704.2 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 57 CUB. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.W57C(2) 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) ACTGCACTTGGACGCTGGAAA 0.393 5 226 --- --- --- --- EFCAB1 79645 broad.mit.edu 37 8 49641698 49641698 + Missense_Mutation SNP T T C TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr8:49641698T>C ENST00000433756.1 - 4 482 c.323A>G c.(322-324)gAc>gGc p.D108G EFCAB1_ENST00000262103.3_Missense_Mutation_p.D160G|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Missense_Mutation_p.D108G NM_001142857.1 NP_001136329.1 Q9HAE3 EFCB1_HUMAN EF-hand calcium binding domain 1 160 EF-hand 2. calcium ion binding p.D160G(1) endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2) 14 all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464) CCCATCATGGTCATGATCCTA 0.408 3 151 --- --- --- --- KRTAP5-9 3846 broad.mit.edu 37 11 71259894 71259894 + Missense_Mutation SNP C C T TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr11:71259894C>T ENST00000528743.2 + 1 429 c.191C>T c.(190-192)tCc>tTc p.S64F NM_005553.3 NP_005544.4 P26371 KRA59_HUMAN keratin associated protein 5-9 64 8 X 4 AA repeats of C-C-X-P. epidermis development keratin filament p.S64F(1) kidney(1)|large_intestine(1)|lung(6)|prostate(3) 11 GGCTGTGGCTCCTGTGGGGGC 0.632 6 211 --- --- --- --- R3HDM2 22864 broad.mit.edu 37 12 57662763 57662763 + Missense_Mutation SNP C C A TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr12:57662763C>A ENST00000402412.1 - 17 2207 c.1817G>T c.(1816-1818)aGc>aTc p.S606I R3HDM2_ENST00000403821.2_Missense_Mutation_p.S626I|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000347140.3_Missense_Mutation_p.S592I|R3HDM2_ENST00000441731.2_Missense_Mutation_p.S287I|R3HDM2_ENST00000358907.2_Missense_Mutation_p.S592I|R3HDM2_ENST00000413953.2_Missense_Mutation_p.S319I Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 592 Gln-rich. nucleus nucleic acid binding p.S253I(1)|p.S592I(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 GCCCCCCATGCTGCTCCTCTG 0.587 5 255 --- --- --- --- METTL3 56339 broad.mit.edu 37 14 21969230 21969230 + Missense_Mutation SNP C C G TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr14:21969230C>G ENST00000298717.4 - 5 1092 c.941G>C c.(940-942)tGc>tCc p.C314S METTL3_ENST00000538267.1_3'UTR NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 314 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding p.C314S(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) AAGGAAAGAGCAGTCACCTAA 0.413 3 137 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25486926 25486926 + RNA SNP G G T TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr15:25486926G>T ENST00000453082.2 + 0 2156 SNORD115-39_ENST00000363694.1_RNA NR_003343.1 TTGTCCTGAAGAGAGGTGATG 0.478 11 536 --- --- --- --- ADAM10 102 broad.mit.edu 37 15 58902623 58902623 + Missense_Mutation SNP T T C TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr15:58902623T>C ENST00000260408.3 - 14 2341 c.1898A>G c.(1897-1899)aAc>aGc p.N633S ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.N332S|ADAM10_ENST00000561288.1_Intron NM_001110.2 NP_001101.1 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 633 Cys-rich. cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding p.N633S(1) breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) TCTAAAATCGTTGCAAGGGGA 0.478 5 161 --- --- --- --- KIAA1199 57214 broad.mit.edu 37 15 81234649 81234649 + Missense_Mutation SNP C C T TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr15:81234649C>T ENST00000394685.3 + 27 4089 c.3670C>T c.(3670-3672)Cac>Tac p.H1224Y KIAA1199_ENST00000220244.3_Missense_Mutation_p.H1224Y|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.H1224Y Q8WUJ3 K1199_HUMAN KIAA1199 1224 p.H1224Y(1) breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GCACTTCTTCCACCTCTGGAA 0.478 47 173 --- --- --- --- DNAH9 1770 broad.mit.edu 37 17 11790187 11790187 + Missense_Mutation SNP G G A TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr17:11790187G>A ENST00000262442.4 + 57 11085 c.11017G>A c.(11017-11019)Gag>Aag p.E3673K DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.E3673K|DNAH9_ENST00000608377.1_5'UTR NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E3673K(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CGAGGCCCGAGAGCACTACCG 0.527 7 180 --- --- --- --- LLGL1 3996 broad.mit.edu 37 17 18137336 18137336 + Silent SNP C C T TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr17:18137336C>T ENST00000316843.4 + 6 657 c.561C>T c.(559-561)gaC>gaT p.D187D NM_004140.3 NP_004131 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 187 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity p.D187D(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) GCGTGCCAGACGACTACCGCT 0.652 5 32 --- --- --- --- KIAA0355 9710 broad.mit.edu 37 19 34818760 34818760 + Missense_Mutation SNP G G A TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr19:34818760G>A ENST00000299505.6 + 5 1804 c.931G>A c.(931-933)Gca>Aca p.A311T NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 311 p.A311T(1) breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) GGCGATTGAAGCAAGTTTGCA 0.453 28 183 --- --- --- --- ZNF420 147923 broad.mit.edu 37 19 37618589 37618589 + Missense_Mutation SNP T T A TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr19:37618589T>A ENST00000337995.3 + 5 911 c.696T>A c.(694-696)ttT>ttA p.F232L ZNF420_ENST00000304239.7_Missense_Mutation_p.F232L|ZNF585A_ENST00000588723.1_Intron NM_144689.3 NP_653290.2 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 232 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F232L(1) breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGAAAGCCTTTATTCGTAGCT 0.368 11 203 --- --- --- --- ZNF600 162966 broad.mit.edu 37 19 53270592 53270592 + Nonsense_Mutation SNP A A C TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr19:53270592A>C ENST00000338230.3 - 3 684 c.417T>G c.(415-417)taT>taG p.Y139* NM_198457.2 NP_940859 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Y139*(2) breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) AATTATTCCCATAGTTATTAG 0.373 5 390 --- --- --- --- NRIP1 8204 broad.mit.edu 37 21 16338592 16338592 + Nonsense_Mutation SNP G G T TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr21:16338592G>T ENST00000400202.1 - 3 2634 c.1922C>A c.(1921-1923)tCa>tAa p.S641* NRIP1_ENST00000400199.1_Nonsense_Mutation_p.S641*|NRIP1_ENST00000318948.4_Nonsense_Mutation_p.S641* P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 641 Repression domain 2. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity p.S641*(1) cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) TGACATGGATGACTGCATTCC 0.438 8 316 --- --- --- --- ADAMTS1 9510 broad.mit.edu 37 21 28211980 28211980 + Missense_Mutation SNP C C T TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr21:28211980C>T ENST00000284984.3 - 7 2408 c.1954G>A c.(1954-1956)Gtc>Atc p.V652I NM_006988.3 NP_008919.3 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 1 Cys-rich. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding p.V652I(2) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 42 Breast(209;0.000962) Lung(58;0.215) TTTGGTGAGACGCCAGCGTAC 0.468 20 299 --- --- --- --- SYN3 8224 broad.mit.edu 37 22 33260926 33260926 + Silent SNP T T C TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr22:33260926T>C ENST00000358763.2 - 6 929 c.687A>G c.(685-687)acA>acG p.T229T SYN3_ENST00000332840.5_Silent_p.T229T NM_001135774.1 NP_001129246.1 O14994 SYN3_HUMAN synapsin III 229 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity p.T229T(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 TGGGGAAAAATGTTTGCTCCA 0.438 15 371 --- --- --- --- ZMYM3 9203 broad.mit.edu 37 X 70472907 70472907 + Nonsense_Mutation SNP C C A TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chrX:70472907C>A ENST00000373998.1 - 2 896 c.199G>T c.(199-201)Gaa>Taa p.E67* ZMYM3_ENST00000373981.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373978.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000353904.2_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373982.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000489332.1_5'UTR NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 67 multicellular organismal development nucleus DNA binding|zinc ion binding p.E67*(1) 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) GGGTCTTTTTCCAGGCCAGCA 0.642 3 30 --- --- --- --- POF1B 79983 broad.mit.edu 37 X 84561266 84561266 + Nonsense_Mutation SNP G G T TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chrX:84561266G>T ENST00000262753.4 - 12 1383 c.1238C>A c.(1237-1239)tCa>tAa p.S413* POF1B_ENST00000373145.3_Nonsense_Mutation_p.S413* NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 413 actin binding p.S413*(2) central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 TTCCATGTCTGATAGTGTATG 0.343 50 155 --- --- --- --- MAGEA6 4105 broad.mit.edu 37 X 151869832 151869832 + Silent SNP C C T TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chrX:151869832C>T ENST00000329342.5 + 3 747 c.522C>T c.(520-522)caC>caT p.H174H NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 174 MAGE. protein binding p.H174H(1) breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CCATCGGCCACGTGTACATCT 0.532 13 143 --- --- --- --- RASL11B 65997 broad.mit.edu 37 4 53730662 53730662 + Frame_Shift_Del DEL C C - TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr4:53730662delC ENST00000248706.3 + 3 435 c.217delC c.(217-219)caafs p.Q73fs RASL11B_ENST00000505041.1_3'UTR NM_023940.2 NP_076429.1 Q9BPW5 RSLBB_HUMAN RAS-like, family 11, member B 73 Small GTPase-like. small GTPase mediated signal transduction membrane GTP binding|GTPase activity autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1) 9 LUSC - Lung squamous cell carcinoma(32;0.0302) CTATACTAGACAAGTTCAGAT 0.378 7 785 --- --- --- --- PACS1 55690 broad.mit.edu 37 11 66000448 66000449 + Frame_Shift_Ins INS - - A TCGA-CH-5738-01A-11D-1576-08 TCGA-CH-5738-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2df47d25-97d9-4d8b-bd00-01bdfe040ceb 21323ad5-08ed-4261-a1cd-8a5f1457829e g.chr11:66000448_66000449insA ENST00000320580.4 + 15 1782_1783 c.1749_1750insA c.(1750-1752)cagfs p.Q584fs PACS1_ENST00000529757.1_Frame_Shift_Ins_p.Q120fs NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 584 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 CTGAGCTGCTCCAGGACCAGCG 0.624 35 423 --- --- --- ---