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 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 0.413000 3 137 0 0 0.115264 0 0 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_ENST00000409872.1_Missense_Mutation_p.G477W|ITGB6_ENST00000409967.2_Missense_Mutation_p.G477W|ITGB6_ENST00000428609.2_Missense_Mutation_p.G435W 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 0.572000 4 92 0.150653 0.156233 0.150653 1 0 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 0.632000 6 211 0 0 0.248553 0 0 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 ENST00000262442.3 + 57 11085 c.11017G>A c.(11017-11019)Gag>Aag p.E3673K DNAH9_ENST00000396001.2_5'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.E3673K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3673 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 0.527000 7 180 0 0 0.248553 0 0 CREM 1390 broad.mit.edu 37 10 35500241 35500241 + 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.chr10:35500241G>A ENST00000333809.8 + 8 1016 c.962G>A c.(961-963)cGt>cAt p.R321H CREM_ENST00000488741.1_Missense_Mutation_p.R75H|CREM_ENST00000488328.1_Intron|CREM_ENST00000374734.3_Missense_Mutation_p.R209H|CREM_ENST00000474931.1_Missense_Mutation_p.R85H|CREM_ENST00000473940.1_Missense_Mutation_p.R93H|CREM_ENST00000354759.3_Missense_Mutation_p.R221H|CREM_ENST00000395887.3_Intron|CREM_ENST00000490511.1_Intron|CREM_ENST00000395895.2_Intron|CREM_ENST00000487763.1_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000356917.5_Missense_Mutation_p.R81H|CREM_ENST00000429130.3_Intron|CREM_ENST00000479070.1_Intron|CREM_ENST00000460270.1_Missense_Mutation_p.R68H|CREM_ENST00000463960.1_Intron|CREM_ENST00000345491.3_Intron|CREM_ENST00000463314.1_Intron|CREM_ENST00000484283.1_Intron|CREM_ENST00000439705.1_Missense_Mutation_p.R258H|CREM_ENST00000374728.3_Intron|CREM_ENST00000342105.3_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000344351.5_Missense_Mutation_p.R68H|CREM_ENST00000468236.1_Intron|CREM_ENST00000361599.4_Intron|CREM_ENST00000374721.3_Missense_Mutation_p.R242H|CREM_ENST00000337656.4_Missense_Mutation_p.R272H NM_183011.1 NP_898829.1 Q03060 CREM_HUMAN cAMP responsive element modulator 333 cell differentiation|multicellular organismal development|signal transduction|spermatogenesis nucleus cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R272H(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 CTTGAAAATCGTGTGGCTGTG 0.443000 33 111 0 0 0.740014 0 0 PPP2R2B 5521 broad.mit.edu 37 5 145969623 145969623 + 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.chr5:145969623C>T ENST00000394413.3 - 9 1789 c.1219G>A c.(1219-1221)Gac>Aac p.D407N PPP2R2B_ENST00000508545.2_Missense_Mutation_p.D396N|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.D473N|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.D407N|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.D465N|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.D407N|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.D410N|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.D407N|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.D396N|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.D413N Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 407 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity p.D410N(1)|p.D465N(1) endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCAGACTGTCGACACTGATC 0.478000 18 509 0 0 0.575678 0 0 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 RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.H1224Y|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 0.478000 47 173 0 0 0.870114 0 0 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 0.438000 15 371 0 0 0.500413 0 0 HNRNPUL1 11100 broad.mit.edu 37 19 41807592 41807592 + 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.chr19:41807592C>T ENST00000392006.3 + 11 1843 c.1670C>T c.(1669-1671)gCg>gTg p.A557V HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.A457V|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.A457V|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.A468V|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.A557V|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.A443V|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.A457V NM_007040.3 NP_008971.2 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 557 Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding p.A557V(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 CCAGATCATGCGGTCTTAGAA 0.483000 4 150 0 0 0.184627 0 0 SNHG14 0 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 0.478000 11 536 1.58986e-06 1.85484e-06 0.361761 1 0 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_ENST00000464898.1_5'UTR 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 0.582000 73 242 0 0 0.870114 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203819752 203819752 + Silent 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.chr1:203819752G>A ENST00000545588.1 + 15 5876 c.2049G>A c.(2047-2049)gtG>gtA p.V683V ZC3H11A_ENST00000367214.1_Silent_p.V683V|ZC3H11A_ENST00000367212.3_Silent_p.V683V|ZC3H11A_ENST00000332127.4_Silent_p.V683V|ZC3H11A_ENST00000367210.1_Silent_p.V683V NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 683 nucleic acid binding|protein binding|zinc ion binding p.V683V(1) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) TTGCCGCTGTGAAGCCACTCA 0.498000 5 52 0 0 0.608945 0 0 MAP1B 4131 broad.mit.edu 37 5 71493006 71493006 + 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.chr5:71493006G>A ENST00000296755.7 + 5 4122 c.3824G>A c.(3823-3825)cGt>cAt p.R1275H NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1275 microtubule|microtubule associated complex structural molecule activity p.R1275H(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CTGGGTGAACGTAGTGTGAAC 0.517000 15 131 0 0 0.500413 0 0 SLC6A1 6529 broad.mit.edu 37 3 11078641 11078641 + 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.chr3:11078641G>T ENST00000287766.4 + 16 2210 c.1789G>T c.(1789-1791)Gcc>Tcc p.A597S SLC6A1_ENST00000536032.1_Missense_Mutation_p.A419S NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 597 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity p.A597S(1) breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) CAGCAAGGAGGCCTACATCTA 0.627000 7 67 0.0293803 0.0316404 0.248553 1 0 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_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.N332S 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 0.478000 5 161 0 0 0.248553 0 0 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 0.527000 3 49 0.115264 0.121788 0.115264 1 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A 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.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 5 167 0 0 0.217242 0 0 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 ENST00000284984.2 - 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, 1 652 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 0.468000 20 299 0 0 0.575678 0 0 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 0.453000 28 183 0 0 0.717897 0 0 ASB2 51676 broad.mit.edu 37 14 94401108 94401108 + 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.chr14:94401108C>T ENST00000555019.1 - 10 2232 c.1802G>A c.(1801-1803)cGa>cAa p.R601Q ASB2_ENST00000315988.4_Missense_Mutation_p.R553Q NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 553 intracellular signal transduction p.R553Q(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) AACCCGCAGTCGGCAAAGGTG 0.488000 46 109 0 0 0.870114 0 0 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_004131.3 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 0.652000 5 32 0 0 0.217242 0 0 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_ENST00000441731.2_Missense_Mutation_p.S287I|R3HDM2_ENST00000413953.2_Missense_Mutation_p.S319I|R3HDM2_ENST00000403821.2_Missense_Mutation_p.S626I|R3HDM2_ENST00000393811.2_Missense_Mutation_p.S319I|R3HDM2_ENST00000358907.2_Missense_Mutation_p.S592I|R3HDM2_ENST00000347140.3_Missense_Mutation_p.S592I|RP11-123K3.4_ENST00000548184.1_RNA 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 0.587000 5 255 6.5536e-12 8.15559e-12 0.278610 1 0 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_940859.2 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 0.373000 5 390 0 0 0.184627 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes 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.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 4 193 0 0 0.217242 0 0 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_001695.1 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 0.393000 5 226 0.000602214 0.000688245 0.184627 1 0 ABCC10 89845 broad.mit.edu 37 6 43403589 43403589 + 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.chr6:43403589G>A ENST00000244533.3 + 3 1939 c.1580G>A c.(1579-1581)cGg>cAg p.R527Q ABCC10_ENST00000372530.4_Missense_Mutation_p.R570Q NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 570 ABC transmembrane type-1 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.R527Q(2) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TCCTTGGACCGGATCCAGCTT 0.567000 5 177 0 0 0.217242 0 0 SHANK1 50944 broad.mit.edu 37 19 51219979 51219979 + Silent 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.chr19:51219979G>A ENST00000293441.1 - 1 216 c.198C>T c.(196-198)gaC>gaT p.D66D SHANK1_ENST00000359082.3_Silent_p.D66D|SHANK1_ENST00000391814.1_Silent_p.D66D NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 66 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding p.D66D(2) breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) AGTGGGCGTCGTCTGGGACGG 0.672000 4 141 0 0 0.150653 0 0 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 0.343000 50 155 1.30409e-13 1.65975e-13 0.870114 1 0 MARS2 92935 broad.mit.edu 37 2 198570300 198570300 + Silent 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.chr2:198570300G>T ENST00000282276.6 + 1 214 c.171G>T c.(169-171)gcG>gcT p.A57A AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 57 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity p.A57A(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) TGAACGCGGCGCCGCACATCG 0.647000 5 47 0.014758 0.0165289 0.184627 1 0 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 0.368000 11 203 0 0 0.361761 0 0 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_ENST00000521002.1_Intron|EFCAB1_ENST00000262103.3_Missense_Mutation_p.D160G|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 0.408000 3 151 0 0 0.150653 0 0 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.588_splice c.e8-1 p.T197_splice 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 0.383000 10 146 1.76689e-08 2.151e-08 0.335167 1 0 GABRQ 55879 broad.mit.edu 37 X 151821286 151821286 + 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.chrX:151821286G>A ENST00000370306.2 + 9 1461 c.1441G>A c.(1441-1443)Gaa>Aaa p.E481K NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 481 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity p.E481K(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) TTTTCCTACCGAAATCCGCAA 0.547000 4 161 0 0 0.184627 0 0 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 0.438000 8 316 1.06961e-07 1.27443e-07 0.278610 1 0 LRRC37A3 374819 broad.mit.edu 37 17 62856432 62856432 + 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.chr17:62856432C>T ENST00000584306.1 - 11 4362 c.3832G>A c.(3832-3834)Gct>Act p.A1278T LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A1278T|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.A255T|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.A396T|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.A316T NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1278 integral to membrane p.A1278T(1) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 ATGGAAATAGCGTGGGTTAAG 0.453000 15 300 0 0 0.520397 0 0 VSIG8 391123 broad.mit.edu 37 1 159827904 159827904 + Missense_Mutation SNP G G A rs112455697 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.chr1:159827904G>A ENST00000368100.1 - 3 541 c.406C>T c.(406-408)Cgg>Tgg p.R136W RP11-190A12.7_ENST00000544342.1_Intron NM_001013661.1 NP_001013683.1 Q5VU13 VSIG8_HUMAN V-set and immunoglobulin domain containing 8 136 Ig-like V-type 1. integral to membrane p.R136W(1) central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 8 all_hematologic(112;0.0597) ATGACCTTCCGGGTGGCCATG 0.557000 32 75 0 0 0.740014 0 0 ZNF454 285676 broad.mit.edu 37 5 178392359 178392359 + 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.chr5:178392359C>G ENST00000320129.3 + 5 1257 c.954C>G c.(952-954)caC>caG p.H318Q ZNF454_ENST00000519564.1_Missense_Mutation_p.H318Q NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H318Q(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) TTACCAAACACCAGAATATCC 0.393000 4 142 0 0 0.150653 0 0 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 0.493000 5 262 0.0215528 0.0236658 0.217242 1 0 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_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_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 0.438000 6 603 0 0 0.217242 0 0 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.67636_splice c.e320-1 p.V22546_splice TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.V13606_splice|TTN_ENST00000342992.6_Splice_Site_p.V19978_splice|TTN_ENST00000342175.6_Splice_Site_p.V13673_splice|TTN-AS1_ENST00000586707.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Splice_Site_p.V20905_splice|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Splice_Site_p.V13481_splice|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_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 0.378000 4 76 0 0 0.184627 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30688748 30688748 + Silent 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.chr22:30688748G>A ENST00000215790.7 - 9 1307 c.1143C>T c.(1141-1143)tgC>tgT p.C381C RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403362.1_Silent_p.C293C|TBC1D10A_ENST00000403477.3_Silent_p.C388C NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 381 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity p.C381C(1) cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 GCGGGGAGCGGCACTGCAGCT 0.657000 4 55 0 0 0.184627 0 0 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 0.552000 5 201 0 0 0.184627 0 0 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 0.532000 13 143 0 0 0.411799 0 0 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 0.348000 4 54 0 0 0.150653 0 0 RP11-382E9.1 0 broad.mit.edu 37 1 199130136 199130137 + RNA INS - - G rs142603788 by1000genomes 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.chr1:199130136_199130137insG ENST00000452199.1 + 0 140 gaaggaaggaagaaggaaggaa 0.475 4 3 --- --- --- --- LINC00504 0 broad.mit.edu 37 4 14562532 14562533 + RNA INS - - GAAG rs28546830 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.chr4:14562532_14562533insGAAG ENST00000505089.1 - 0 461 gagggagggaagaaggaaggaa 0.426 4 1 --- --- --- --- 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)aafs 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 --- --- --- --- UTP3 57050 broad.mit.edu 37 4 71554620 71554622 + In_Frame_Del DEL GAG GAG - 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.chr4:71554620_71554622delGAG ENST00000254803.2 + 1 425_427 c.226_228delGAG c.(226-228)del p.E81del NM_020368.2 NP_065101.1 Q9NQZ2 SAS10_HUMAN UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 81 Glu-rich. brain development|chromatin modification|gene silencing nucleolus endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4) 18 Lung(101;0.235) ggaggatggcgaggaggaggagg 0.567 7 67 --- --- --- --- ADH1C 126 broad.mit.edu 37 4 100265826 100265827 + RNA INS - - AACTC rs138852664 by1000genomes 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.chr4:100265826_100265827insAACTC ENST00000515683.1 - 0 919 ADH1C_ENST00000510055.1_RNA NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) TACATTTTCTTAACAAGTTTTT 0.297 4 5 --- --- --- --- 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.(1747-1752)ctaggafs p.G584fs PACS1_ENST00000529757.1_Frame_Shift_Ins_p.G120fs 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 --- --- --- --- RTL1 388015 broad.mit.edu 37 14 101350670 101350671 + In_Frame_Ins INS - - TCT rs55755518 by1000genomes 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.chr14:101350670_101350671insTCT ENST00000534062.1 - 1 513_514 c.455_456insAGA c.(454-456)gca>gAGAca p.152_152A>ET NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 152 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 TCTGGTTTTGCTCTTGAGGAGT 0.520 6 8 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74394379 74394380 + RNA INS - - A rs142790741 by1000genomes 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.chr16:74394379_74394380insA ENST00000429810.2 - 0 435 TAGTCATCCTTAAACAAAATTC 0.347 5 8 --- --- --- --- RP11-678G14.2 0 broad.mit.edu 37 19 21749584 21749585 + RNA INS - - A rs140005343 by1000genomes 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.chr19:21749584_21749585insA ENST00000594564.1 - 0 134 CGATGACCAAGAAAAAACTAAA 0.446 3 5 --- --- --- ---