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 MOCS3 27304 broad.mit.edu 37 20 49575532 49575532 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr20:49575532G>A ENST00000244051.1 + 1 170 c.153G>A c.(151-153)ccG>ccA p.P51P NM_014484.3 NP_055299.1 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 51 enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 24 CGCTGCCGCCGAAGGCCGCTC 0.652000 6 122 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42196160 42196160 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:42196160C>T ENST00000541110.1 - 18 4154 c.3586G>A c.(3586-3588)Gag>Aag p.E1196K TRERF1_ENST00000340840.2_Missense_Mutation_p.E1105K|TRERF1_ENST00000354325.2_Missense_Mutation_p.E1093K|TRERF1_ENST00000372922.4_Missense_Mutation_p.E1176K|TRERF1_ENST00000372917.4_Missense_Mutation_p.E1105K Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 1176 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) ACTTCAGCCTCTTCCATGACA 0.532000 12 148 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25283562 25283562 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr13:25283562C>T ENST00000218548.6 + 18 2905 c.2572C>T c.(2572-2574)Cgc>Tgc p.R858C ATP12A_ENST00000381946.3_Missense_Mutation_p.R852C NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 852 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CAGGAAGCCTCGCCACAAGAA 0.557000 12 58 0 0 1 0 0 CPEB1 64506 broad.mit.edu 37 15 83295967 83295967 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:83295967C>T ENST00000563800.1 - 2 1973 c.248G>A c.(247-249)cGa>cAa p.R83Q CPEB1_ENST00000562019.1_Missense_Mutation_p.R56Q|CPEB1_ENST00000450751.2_5'UTR|CPEB1_ENST00000568757.1_5'UTR|CPEB1_ENST00000568128.1_Missense_Mutation_p.R56Q Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding protein 1 56 mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(143;0.229) ATGAATTCCTCGGTTTATAGG 0.403000 25 76 0 0 1 0 0 ZSCAN9 7746 broad.mit.edu 37 6 28200360 28200360 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:28200360G>A ENST00000425468.2 + 5 907 c.742G>A c.(742-744)Gac>Aac p.D248N ZSCAN9_ENST00000252207.5_Missense_Mutation_p.D197N|ZSCAN9_ENST00000531979.1_Missense_Mutation_p.D197N NM_001199479.1 NP_001186408.1 zinc finger and SCAN domain containing 9 CAAGACTGAGGACAGAGAGTT 0.423000 6 77 0 0 1 0 0 DENND1A 57706 broad.mit.edu 37 9 126143804 126143804 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:126143804C>T ENST00000373624.2 - 22 3138 c.2937G>A c.(2935-2937)caG>caA p.Q979Q DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Silent_p.Q990Q|DENND1A_ENST00000542603.1_Silent_p.Q764Q NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 979 Pro-rich. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 GCTTGGTTTTCTGTAACAAAT 0.647000 9 39 0 0 1 0 0 C16orf71 146562 broad.mit.edu 37 16 4797521 4797521 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:4797521G>A ENST00000299320.5 + 9 1936 c.1458G>A c.(1456-1458)caG>caA p.Q486Q RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Silent_p.Q503Q NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 486 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 CCAAGGGGCAGAGCGCCCAGG 0.667000 7 20 0 0 1 0 0 SCAF4 57466 broad.mit.edu 37 21 33069036 33069036 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr21:33069036C>T ENST00000286835.7 - 8 1187 c.805G>A c.(805-807)Gat>Aat p.D269N SCAF4_ENST00000434667.3_Missense_Mutation_p.D254N|SCAF4_ENST00000399804.1_Missense_Mutation_p.D269N NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 269 nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 TCTGGCTCATCATCATAGTCA 0.423000 17 95 0 0 1 0 0 CLCA3P 9629 broad.mit.edu 37 1 87102530 87102530 + RNA SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:87102530G>C ENST00000456587.1 - 0 294 CLCA3P_ENST00000466454.1_RNA GGGAGTATTTGATGAGTATAA 0.363000 5 98 0 0 1 0 0 C4BPA 722 broad.mit.edu 37 1 207314612 207314612 + Nonsense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:207314612C>T ENST00000367070.3 + 10 1629 c.1435C>T c.(1435-1437)Caa>Taa p.Q479* NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 479 Sushi 7. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 TCCAGCCCCTCAATGTAAAGG 0.463000 19 86 0 0 1 0 0 NUDT6 11162 broad.mit.edu 37 4 123843692 123843692 + Silent SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:123843692C>G ENST00000304430.5 - 1 69 c.36G>C c.(34-36)gcG>gcC p.A12A NUDT6_ENST00000339154.2_Intron NM_007083.4 NP_009014.2 P53370 NUDT6_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 6 12 mitochondrion|nucleus growth factor activity|hydrolase activity endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1) 6 GGGCAAGCATCGCGCGCCAGC 0.692000 7 20 0 0 1 0 0 TFAP2E 339488 broad.mit.edu 37 1 36056363 36056363 + Missense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:36056363C>A ENST00000373235.3 + 6 1241 c.1033C>A c.(1033-1035)Ctg>Atg p.L345M NM_178548.3 NP_848643.2 Q6VUC0 AP2E_HUMAN transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) 345 H-S-H (helix-span-helix), dimerization. nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1) 2 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) CAAGAGCATGCTGCTGGCTGC 0.612000 3 18 0.00024832 0.000254589 1 1 0 SCAPER 49855 broad.mit.edu 37 15 76673758 76673758 + Missense_Mutation SNP G G T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:76673758G>T ENST00000538941.2 - 28 3867 c.2928C>A c.(2926-2928)ttC>ttA p.F976L SCAPER_ENST00000324767.7_Missense_Mutation_p.F1222L|SCAPER_ENST00000563290.1_Missense_Mutation_p.F1222L NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 1221 endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 AGCTGTTGAAGAAACGTAAAC 0.428000 8 34 2.17888e-05 2.26244e-05 1 1 0 DDX54 79039 broad.mit.edu 37 12 113599123 113599123 + Missense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr12:113599123C>A ENST00000314045.7 - 19 2392 c.2365G>T c.(2365-2367)Gac>Tac p.D789Y DDX54_ENST00000306014.5_Missense_Mutation_p.D789Y|DDX54_ENST00000549271.1_5'UTR NM_001111322.1 NP_001104792.1 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 789 estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CCTCGCCGGTCAGATGCCCCT 0.577000 15 37 9.16793e-09 9.69863e-09 1 1 0 MAVS 57506 broad.mit.edu 37 20 3842137 3842137 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr20:3842137G>C ENST00000428216.2 + 4 579 c.451G>C c.(451-453)Gag>Cag p.E151Q MAVS_ENST00000416600.2_Missense_Mutation_p.E10Q|MAVS_ENST00000358134.6_Intron NM_020746.4 NP_065797.2 Q7Z434 MAVS_HUMAN mitochondrial antiviral signaling protein 151 Pro-rich. activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 CCAGGCGCCAGAGTCCCCAGG 0.592000 6 65 0 0 1 0 0 USP41 373856 broad.mit.edu 37 22 20723725 20723725 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr22:20723725C>T ENST00000454608.2 - 8 620 c.621G>A c.(619-621)aaG>aaA p.K207K USP41_ENST00000486536.2_5'UTR ubiquitin specific peptidase 41 endometrium(1)|kidney(1)|lung(2)|skin(1) 5 TTACCAGTGTCTTCAGGGGCT 0.423000 8 51 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9783920 9783920 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:9783920C>T ENST00000304374.2 + 1 663 c.267C>T c.(265-267)ttC>ttT p.F89F NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 89 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CAGACCTTTTCGTGGCGCTGC 0.632000 19 17 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9783854 9783854 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:9783854G>A ENST00000304374.2 + 1 597 c.201G>A c.(199-201)cgG>cgA p.R67R NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 67 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CCATCGTGCGGAGCCGCCACC 0.647000 10 8 0 0 1 0 0 OR10R2 343406 broad.mit.edu 37 1 158450384 158450384 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:158450384C>T ENST00000368152.1 + 1 717 c.717C>T c.(715-717)ctC>ctT p.L239L 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 2 239 L -> F (in dbSNP:rs1418843). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) TTTCTTATCTCTGCATTCTGA 0.428000 14 118 0 0 1 0 0 FAHD2CP 729234 broad.mit.edu 37 2 96686904 96686904 + RNA SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:96686904G>A ENST00000607780.1 + 0 886 GCTGTCGAGTGAATGGGGAAG 0.488000 13 91 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40028327 40028327 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:40028327C>T ENST00000352035.2 - 24 2881 c.2751G>A c.(2749-2751)ggG>ggA p.G917G ACLY_ENST00000590151.1_Silent_p.G917G|ACLY_ENST00000537919.1_Silent_p.G646G|ACLY_ENST00000353196.1_Silent_p.G907G|ACLY_ENST00000393896.2_Silent_p.G907G NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 917 AGKD -> TAVE (in Ref. 1; CAA45614). ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) CCAGGTCTTTCCCAGCTCGCG 0.567000 4 37 0 0 1 0 0 VIPAS39 63894 broad.mit.edu 37 14 77916080 77916080 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:77916080C>T ENST00000553888.1 - 5 869 c.359G>A c.(358-360)gGa>gAa p.G120E VIPAS39_ENST00000448935.2_Missense_Mutation_p.G71E|VIPAS39_ENST00000556412.1_Missense_Mutation_p.G146E|VIPAS39_ENST00000327028.4_Intron|VIPAS39_ENST00000343765.2_Missense_Mutation_p.G120E|VIPAS39_ENST00000557658.1_Missense_Mutation_p.G120E NM_001193314.1|NM_001193317.1|NM_022067.3 NP_001180243.1|NP_001180246.1|NP_071350.2 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog CTGGAAACTTCCAGGTCTAGT 0.443000 44 72 0 0 1 0 0 NEIL2 252969 broad.mit.edu 37 8 11637344 11637344 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr8:11637344G>C ENST00000284503.6 + 3 975 c.376G>C c.(376-378)Gat>Cat p.D126H NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000403422.3_Missense_Mutation_p.D65H|NEIL2_ENST00000455213.2_Missense_Mutation_p.D126H|NEIL2_ENST00000436750.3_Missense_Mutation_p.D126H NM_145043.2 NP_659480.1 Q969S2 NEIL2_HUMAN nei endonuclease VIII-like 2 (E. coli) 126 base-excision repair|nucleotide-excision repair nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_epithelial(15;0.103) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.166) CCCTGCAGGAGATGCTGGGAG 0.577000 Base excision repair (BER), DNA glycosylases 16 83 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3640791 3640791 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:3640791C>G ENST00000294008.3 - 12 3488 c.2848G>C c.(2848-2850)Gag>Cag p.E950Q NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 950 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 AGCGCCTCCTCTGGCGCCTCC 0.657000 Direct reversal of damage 13 54 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57489208 57489208 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:57489208G>A ENST00000371236.2 - 11 1154 c.891C>T c.(889-891)ccC>ccT p.P297P DAB1_ENST00000414851.2_Silent_p.P279P|DAB1_ENST00000371231.1_Silent_p.P330P|DAB1_ENST00000439789.2_Silent_p.P211P|DAB1_ENST00000371234.4_Silent_p.P297P|DAB1_ENST00000420954.2_Silent_p.P295P|DAB1_ENST00000485760.1_5'UTR O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 330 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GCTTACCTGAGGGTACAGCAG 0.493000 7 11 0 0 1 0 0 GPR173 54328 broad.mit.edu 37 X 53106308 53106308 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chrX:53106308C>T ENST00000332582.4 + 2 996 c.505C>T c.(505-507)Cgg>Tgg p.R169W NM_018969.5 NP_061842.1 Q9NS66 GP173_HUMAN G protein-coupled receptor 173 169 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1) 16 CAAGTTTATTCGGGAGGAGGA 0.562000 6 12 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597320 136597320 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:136597320C>G ENST00000531224.1 - 5 1595 c.1343G>C c.(1342-1344)aGa>aCa p.R448T BCLAF1_ENST00000392348.2_Missense_Mutation_p.R446T|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R446T|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R446T|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R448T|BCLAF1_ENST00000530767.1_Intron NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 448 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) ATCACTTTCTCTATTGCCTTT 0.388000 12 240 0 0 1 0 0 MAVS 57506 broad.mit.edu 37 20 3838402 3838402 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr20:3838402G>A ENST00000428216.2 + 3 366 c.238G>A c.(238-240)Gag>Aag p.E80K MAVS_ENST00000416600.2_Intron|MAVS_ENST00000358134.6_Missense_Mutation_p.E80K NM_020746.4 NP_065797.2 Q7Z434 MAVS_HUMAN mitochondrial antiviral signaling protein 80 activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 GAGGGGCTGTGAGCTAGTTGA 0.632000 13 109 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57187752 57187752 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:57187752C>T ENST00000331162.4 - 5 1640 c.1370G>A c.(1369-1371)aGa>aAa p.R457K NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 457 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) AGTATGAATTCTCTTGTGGTC 0.433000 8 133 0 0 1 0 0 ERF 2077 broad.mit.edu 37 19 42753748 42753748 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:42753748G>A ENST00000222329.4 - 4 673 c.516C>T c.(514-516)ctC>ctT p.L172L AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Silent_p.L97L NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 172 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) CAGCCGAGAAGAGGGAAGATG 0.657000 4 61 0 0 1 0 0 GABRA5 2558 broad.mit.edu 37 15 27193135 27193135 + Missense_Mutation SNP A A G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:27193135A>G ENST00000335625.5 + 11 2032 c.1144A>G c.(1144-1146)Atg>Gtg p.M382V GABRA5_ENST00000400081.3_Missense_Mutation_p.M382V|GABRA5_ENST00000355395.5_Missense_Mutation_p.M382V NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 382 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AACTGGGAAGATGTCTCACCC 0.433000 4 5 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31354887 31354887 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:31354887G>A ENST00000542188.1 - 8 1348 c.1035C>T c.(1033-1035)ctC>ctT p.L345L TRPM1_ENST00000397795.2_Silent_p.L306L|TRPM1_ENST00000256552.6_Silent_p.L328L NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 306 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GCTGCTCCCTGAGGGACTCAT 0.333000 5 84 0 0 1 0 0 ACTR8 93973 broad.mit.edu 37 3 53902769 53902769 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:53902769C>G ENST00000335754.3 - 13 1952 c.1852G>C c.(1852-1854)Gag>Cag p.E618Q ACTR8_ENST00000488802.1_5'UTR|ACTR8_ENST00000482349.1_Missense_Mutation_p.E507Q|ACTR8_ENST00000231909.7_Missense_Mutation_p.E323Q NM_022899.4 NP_075050.3 Q9H981 ARP8_HUMAN ARP8 actin-related protein 8 homolog (yeast) 618 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) GCAGCCCGCTCTCGTAACATG 0.478000 9 44 0 0 1 0 0 SPIN2A 54466 broad.mit.edu 37 X 57162619 57162619 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chrX:57162619C>G ENST00000374908.1 - 1 811 c.412G>C c.(412-414)Gag>Cag p.E138Q SPIN2A_ENST00000374906.3_Missense_Mutation_p.E138Q Q99865 SPI2A_HUMAN spindlin family, member 2A 138 cell cycle|gamete generation breast(1)|kidney(1)|ovary(1) 3 TGCTCTCCCTCAAACATGTGT 0.418000 38 103 0 0 1 0 0 DKKL1 27120 broad.mit.edu 37 19 49867963 49867963 + Silent SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:49867963C>G ENST00000221498.2 + 2 540 c.135C>G c.(133-135)ctC>ctG p.L45L DKKL1_ENST00000594268.1_Intron NM_014419.3 NP_055234.1 Q9UK85 DKKL1_HUMAN dickkopf-like 1 45 anatomical structure morphogenesis extracellular space protein binding|signal transducer activity large_intestine(2)|upper_aerodigestive_tract(1) 3 all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456) CCTTGGGTCTCACAGGCCTCC 0.587000 4 78 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21233505 21233505 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:21233505C>T ENST00000233242.1 - 26 6362 c.6235G>A c.(6235-6237)Gaa>Aaa p.E2079K NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 2079 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCAAAATATTCTTGCAAGGTC 0.343000 22 79 0 0 1 0 0 INSL5 10022 broad.mit.edu 37 1 67266883 67266883 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:67266883G>C ENST00000304526.2 - 1 56 c.22C>G c.(22-24)Ctg>Gtg p.L8V NM_005478.4 NP_005469.2 Q9Y5Q6 INSL5_HUMAN insulin-like 5 8 extracellular region hormone activity breast(2)|endometrium(1)|lung(5) 8 AATAAAAACAGAGTGAAAATG 0.418000 4 32 0 0 1 0 0 LRRC36 55282 broad.mit.edu 37 16 67404900 67404900 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:67404900G>C ENST00000329956.6 + 9 1268 c.1249G>C c.(1249-1251)Gag>Cag p.E417Q LRRC36_ENST00000290940.7_Missense_Mutation_p.E149Q|LRRC36_ENST00000435835.3_Missense_Mutation_p.E296Q|LRRC36_ENST00000563189.1_Missense_Mutation_p.E296Q|LRRC36_ENST00000541146.1_5'UTR NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 417 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) TGTCAATGTAGAGCAACAATT 0.493000 7 96 0 0 1 0 0 ZNF276 92822 broad.mit.edu 37 16 89800365 89800365 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:89800365C>T ENST00000289816.5 + 9 1480 c.1168C>T c.(1168-1170)Cgg>Tgg p.R390W ZNF276_ENST00000446326.2_Missense_Mutation_p.R251W|ZNF276_ENST00000443381.2_Missense_Mutation_p.R465W|ZNF276_ENST00000568064.1_Missense_Mutation_p.R373W NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 465 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R390W(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) GGTCCGGGAGCGGCCCTGCCC 0.627000 13 19 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93821974 93821974 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:93821974C>G ENST00000315765.9 + 12 2142 c.2134C>G c.(2134-2136)Cag>Gag p.Q712E NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 712 Plastocyanin-like 4. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) AGGCATGGGTCAGATCTATGA 0.502000 17 35 0 0 1 0 0 EVC 2121 broad.mit.edu 37 4 5749989 5749989 + Missense_Mutation SNP G G T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:5749989G>T ENST00000382674.2 + 8 1238 c.1054G>T c.(1054-1056)Gca>Tca p.A352S EVC_ENST00000509451.1_Missense_Mutation_p.A352S|EVC_ENST00000264956.6_Missense_Mutation_p.A352S P57679 EVC_HUMAN Ellis van Creveld syndrome 352 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) AAGAATGATTGCAGCCGAAGG 0.488000 25 11 1.42536e-11 1.53226e-11 1 1 0 KLHL41 10324 broad.mit.edu 37 2 170366331 170366331 + Nonsense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:170366331C>T ENST00000284669.1 + 1 120 c.43C>T c.(43-45)Caa>Taa p.Q15* RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron NM_006063.2 NP_006054.2 kelch-like family member 41 GCGGCTTTACCAATCCACCCT 0.488000 47 102 0 0 1 0 0 HTATSF1 27336 broad.mit.edu 37 X 135593696 135593696 + Nonsense_Mutation SNP G G T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chrX:135593696G>T ENST00000535601.1 + 10 2214 c.1792G>T c.(1792-1794)Gaa>Taa p.E598* HTATSF1_ENST00000218364.4_Nonsense_Mutation_p.E598* NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 598 Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) AAATGACTCTGAAAACTCCGA 0.388000 29 50 8.58068e-18 9.34796e-18 1 1 0 IL31RA 133396 broad.mit.edu 37 5 55178994 55178994 + Nonsense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:55178994C>T ENST00000396834.1 + 7 1016 c.520C>T c.(520-522)Cga>Tga p.R174* IL31RA_ENST00000490985.1_Nonsense_Mutation_p.R51*|IL31RA_ENST00000297015.3_Nonsense_Mutation_p.R51*|IL31RA_ENST00000359040.5_Nonsense_Mutation_p.R193*|IL31RA_ENST00000447346.2_Nonsense_Mutation_p.R193*|IL31RA_ENST00000396836.2_Nonsense_Mutation_p.R193*|IL31RA_ENST00000354961.4_Nonsense_Mutation_p.R174* NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 161 Fibronectin type-III 2. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) ATACACACTTCGATTCAGGAC 0.383000 14 31 0 0 1 0 0 TNPO1 3842 broad.mit.edu 37 5 72192888 72192888 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:72192888G>C ENST00000337273.5 + 20 2674 c.2248G>C c.(2248-2250)Gag>Cag p.E750Q TNPO1_ENST00000506351.2_Missense_Mutation_p.E742Q|TNPO1_ENST00000523768.1_Missense_Mutation_p.E700Q|TNPO1_ENST00000454282.1_Missense_Mutation_p.E700Q NM_002270.3 NP_002261.3 Q92973 TNPO1_HUMAN transportin 1 750 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) TCTAGGTATAGAGATGCAGCC 0.343000 16 31 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32915264 32915264 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr13:32915264G>A ENST00000544455.1 + 11 6999 c.6772G>A c.(6772-6774)Gaa>Aaa p.E2258K BRCA2_ENST00000380152.3_Missense_Mutation_p.E2258K NM_000059.3 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2258 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TACATGTCCCGAAAATGAGGA 0.378000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 18 179 0 0 1 0 0 GGT5 2687 broad.mit.edu 37 22 24622208 24622208 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr22:24622208C>T ENST00000327365.4 - 8 1481 c.1065G>A c.(1063-1065)gaG>gaA p.E355E GGT5_ENST00000418439.2_Silent_p.E278E|GGT5_ENST00000263112.7_Silent_p.E323E|GGT5_ENST00000398292.3_Silent_p.E355E NM_001099781.1|NM_004121.2 NP_001093251.1|NP_004112.2 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 355 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 GGGCCAGGGTCTCCCCCAGCA 0.677000 6 27 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141533803 141533803 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:141533803C>T ENST00000389484.3 - 33 6335 c.5364G>A c.(5362-5364)aaG>aaA p.K1788K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1788 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) ACCACAGTTTCTTATCTAGAA 0.343000 TSP Lung(27;0.18) 8 34 0 0 1 0 0 TPCN2 219931 broad.mit.edu 37 11 68838873 68838873 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:68838873C>T ENST00000294309.3 + 10 1046 c.945C>T c.(943-945)ttC>ttT p.F315F TPCN2_ENST00000542467.1_Silent_p.F315F|TPCN2_ENST00000442692.2_3'UTR NM_139075.3 NP_620714.2 Q8NHX9 TPC2_HUMAN two pore segment channel 2 315 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) ACAGTCAGTTCCGGGGCTACC 0.597000 3 11 0 0 1 0 0 XPO5 57510 broad.mit.edu 37 6 43528732 43528732 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:43528732C>G ENST00000265351.7 - 10 1234 c.1024G>C c.(1024-1026)Gat>Cat p.D342H NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 342 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) GTTTCTACATCAGAATCTGCA 0.368000 14 67 0 0 1 0 0 GPR37L1 9283 broad.mit.edu 37 1 202097339 202097339 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:202097339C>T ENST00000367282.5 + 2 1207 c.1101C>T c.(1099-1101)gtC>gtT p.V367V NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 TGACCGTGGTCTACGCCTTCT 0.647000 9 113 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39893741 39893741 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:39893741G>A ENST00000564288.1 + 63 17362 c.16585G>A c.(16585-16587)Gaa>Aaa p.E5529K MACF1_ENST00000567887.1_Missense_Mutation_p.E5566K|MACF1_ENST00000361689.2_Missense_Mutation_p.E3467K|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Missense_Mutation_p.E3467K|MACF1_ENST00000545844.1_Missense_Mutation_p.E3467K|MACF1_ENST00000289893.4_Missense_Mutation_p.E3969K Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 5534 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGTGCTGTCAGAAAAGATAGA 0.498000 5 66 0 0 1 0 0 ZC3H4 23211 broad.mit.edu 37 19 47569810 47569810 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:47569810C>T ENST00000253048.5 - 15 3752 c.3715G>A c.(3715-3717)Gag>Aag p.E1239K ZC3H4_ENST00000594019.1_5'UTR NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 1239 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GGGGCACCCTCGGGGGGTGGG 0.701000 4 7 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12502718 12502718 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:12502718C>G ENST00000419318.1 - 4 1147 c.398G>C c.(397-399)gGa>gCa p.G133A CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.G165A Q96GE5 ZN799_HUMAN zinc finger protein 799 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TGGTTTCTTTCCAGTGTGAAG 0.428000 6 100 0 0 1 0 0 SEMA4G 57715 broad.mit.edu 37 10 102740934 102740934 + Silent SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:102740934G>C ENST00000210633.3 + 13 1731 c.1653G>C c.(1651-1653)ctG>ctC p.L551L SEMA4G_ENST00000517724.1_Silent_p.L551L|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000370250.4_Silent_p.L546L|RP11-108L7.4_ENST00000447344.1_RNA Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 546 PSI. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) GGACAGCACTGATACAGGACA 0.473000 5 35 0 0 1 0 0 SEPT10 151011 broad.mit.edu 37 2 110332202 110332202 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:110332202G>C ENST00000356688.4 - 5 871 c.556C>G c.(556-558)Ctg>Gtg p.L186V SEPT10_ENST00000437928.1_Missense_Mutation_p.L171V|SEPT10_ENST00000545389.1_Intron|SEPT10_ENST00000397712.2_Missense_Mutation_p.L186V|SEPT10_ENST00000334001.6_Missense_Mutation_p.L53V|SEPT10_ENST00000397714.2_Missense_Mutation_p.L163V|SEPT10_ENST00000415095.1_Missense_Mutation_p.L186V Q9P0V9 SEP10_HUMAN septin 10 186 cell cycle|cell division septin complex GTP binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1) 18 AGTGTCTTCAGAGAGTGGCCT 0.393000 16 66 0 0 1 0 0 GLI4 2738 broad.mit.edu 37 8 144358969 144358969 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr8:144358969G>C ENST00000340042.1 + 4 1211 c.1126G>C c.(1126-1128)Gag>Cag p.E376Q GLI4_ENST00000523522.1_Missense_Mutation_p.E376Q|GLI4_ENST00000523812.1_3'UTR NM_138465.3 NP_612474.1 P10075 GLI4_HUMAN GLI family zinc finger 4 376 nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(5) 9 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) GCACTACCGCGAGTAGCCGGG 0.736000 3 7 0 0 1 0 0 DPRX 503834 broad.mit.edu 37 19 54140199 54140199 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:54140199C>G ENST00000376650.1 + 3 584 c.533C>G c.(532-534)tCt>tGt p.S178C NM_001012728.1 NP_001012746.1 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 178 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|large_intestine(1)|lung(7) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) AGCTTCCATTCTGGCTCTCCT 0.438000 9 176 0 0 1 0 0 NARFL 64428 broad.mit.edu 37 16 783368 783368 + Silent SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:783368C>A ENST00000540986.1 - 6 1882 c.447G>T c.(445-447)ctG>ctT p.L149L NARFL_ENST00000301694.5_3'UTR|HAGHL_ENST00000569604.1_Intron|NARFL_ENST00000568545.1_Silent_p.L149L|NARFL_ENST00000251588.2_Silent_p.L251L|NARFL_ENST00000562862.1_5'UTR Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 251 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding autonomic_ganglia(1)|large_intestine(1)|lung(7) 9 Hepatocellular(780;0.0218) TGGAGGCTTCCAGCTTTTTGT 0.557000 4 51 0.00024832 0.000254589 1 1 0 TSSK1B 83942 broad.mit.edu 37 5 112770257 112770257 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:112770257C>T ENST00000390666.3 - 1 471 c.280G>A c.(280-282)Gtc>Atc p.V94I MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA NM_032028.3 NP_114417.1 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1B 94 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) TCGCCCTGGACCGCGAGCTCC 0.512000 11 24 0 0 1 0 0 C14orf93 60686 broad.mit.edu 37 14 23456450 23456450 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:23456450C>G ENST00000299088.6 - 7 2020 c.1591G>C c.(1591-1593)Gaa>Caa p.E531Q C14orf93_ENST00000397379.3_Missense_Mutation_p.E531Q|C14orf93_ENST00000397377.1_Missense_Mutation_p.E351Q|C14orf93_ENST00000406429.2_Missense_Mutation_p.E491Q|RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397382.4_Missense_Mutation_p.E531Q|C14orf93_ENST00000341470.4_Missense_Mutation_p.E491Q|RP11-298I3.4_ENST00000557615.1_RNA NM_001130708.1|NM_021944.2 NP_001124180.1|NP_068763.2 Q9H972 CN093_HUMAN chromosome 14 open reading frame 93 531 extracellular region kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 17 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0127) ACCTTGATTTCAATGAATGAG 0.483000 OREG0022593 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 35 0 0 1 0 0 CCDC102B 79839 broad.mit.edu 37 18 66564576 66564576 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr18:66564576G>A ENST00000360242.5 + 6 1291 c.1174G>A c.(1174-1176)Gag>Aag p.E392K CCDC102B_ENST00000358653.5_Missense_Mutation_p.E392K|CCDC102B_ENST00000319445.6_Missense_Mutation_p.E392K|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Missense_Mutation_p.E392K NM_024781.2 NP_079057 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 392 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) AGAAATGGAAGAGCTTTTGGA 0.393000 12 83 0 0 1 0 0 ITGB1 3688 broad.mit.edu 37 10 33201009 33201009 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:33201009C>G ENST00000396033.2 - 12 1648 c.1513G>C c.(1513-1515)Gat>Cat p.D505H ITGB1_ENST00000302278.3_Missense_Mutation_p.D505H|ITGB1_ENST00000374956.4_Missense_Mutation_p.D505H|ITGB1_ENST00000423113.1_Missense_Mutation_p.D505H NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 505 Cysteine-rich tandem repeats. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) TTAACTTCATCTGTGCTGCAT 0.413000 13 46 0 0 1 0 0 IGHV3-33 28434 broad.mit.edu 37 14 106815956 106815956 + RNA SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:106815956G>A ENST00000390615.2 - 0 196 CTGCACAGGAGAGTCTCAGGG 0.587000 15 48 0 0 1 0 0 PTGER3 5733 broad.mit.edu 37 1 71418609 71418609 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:71418609G>A ENST00000356595.4 - 4 1448 c.1238C>T c.(1237-1239)tCa>tTa p.S413L PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000414819.1_3'UTR NM_198718.1 NP_942011.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 0 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) CTTTACTGTTGAGATTCTGGT 0.423000 8 183 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43439684 43439684 + RNA SNP A A G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:43439684A>G ENST00000406070.2 - 0 398 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) ATTGGAATATACTGTTTCTCA 0.418000 30 585 0 0 1 0 0 NCOA1 8648 broad.mit.edu 37 2 24896300 24896300 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:24896300G>C ENST00000405141.1 + 8 1033 c.322G>C c.(322-324)Gaa>Caa p.E108Q NCOA1_ENST00000348332.3_Missense_Mutation_p.E108Q|NCOA1_ENST00000406961.1_Missense_Mutation_p.E108Q|NCOA1_ENST00000538539.1_Missense_Mutation_p.E108Q|NCOA1_ENST00000395856.3_Missense_Mutation_p.E108Q|NCOA1_ENST00000288599.5_Missense_Mutation_p.E108Q|NCOA1_ENST00000407230.1_5'UTR Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 108 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGAGTGATAGAAAAGGAATC 0.338000 T PAX3 alveolar rhadomyosarcoma 30 105 0 0 1 0 0 DNASE1L3 1776 broad.mit.edu 37 3 58183687 58183687 + Missense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:58183687C>A ENST00000483681.1 - 8 1146 c.565G>T c.(565-567)Gac>Tac p.D189Y DNASE1L3_ENST00000394549.2_Missense_Mutation_p.D189Y|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.D159Y|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.D189Y Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 189 apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) GCATTGAAGTCACCCATGAAA 0.512000 14 30 2.32078e-09 2.46225e-09 1 1 0 DPRX 503834 broad.mit.edu 37 19 54139969 54139969 + Silent SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:54139969G>C ENST00000376650.1 + 3 354 c.303G>C c.(301-303)ctG>ctC p.L101L NM_001012728.1 NP_001012746.1 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 101 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|large_intestine(1)|lung(7) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) GTGTCGGCCTGAGAAATGCAG 0.527000 43 85 0 0 1 0 0 PMVK 10654 broad.mit.edu 37 1 154898934 154898934 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:154898934G>A ENST00000368467.3 - 4 643 c.338C>T c.(337-339)tCt>tTt p.S113F NM_006556.3 NP_006547.1 Q15126 PMVK_HUMAN phosphomevalonate kinase 113 cholesterol biosynthetic process|protein phosphorylation cytosol|peroxisome ATP binding|phosphomevalonate kinase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142) BRCA - Breast invasive adenocarcinoma(34;0.00034) CTGGATGTCAGACACTCTCCG 0.607000 18 20 0 0 1 0 0 BCL6B 255877 broad.mit.edu 37 17 6927018 6927018 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:6927018G>C ENST00000293805.5 + 2 120 c.28G>C c.(28-30)Gcg>Ccg p.A10P BCL6B_ENST00000572216.1_3'UTR NM_181844.3 NP_862827 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 10 nucleus zinc ion binding skin(1) 1 CCCGGAGGGAGCGCTGGGCTA 0.662000 16 23 0 0 1 0 0 SV2B 9899 broad.mit.edu 37 15 91809817 91809817 + Silent SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:91809817C>G ENST00000394232.1 + 7 1484 c.1014C>G c.(1012-1014)tcC>tcG p.S338S SV2B_ENST00000330276.4_Silent_p.S338S|SV2B_ENST00000545111.2_Silent_p.S187S NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 338 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) TTCAGGTTTCCAACATCAAAA 0.368000 14 41 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97096663 97096663 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:97096663G>A ENST00000371247.2 - 30 3443 c.3254C>T c.(3253-3255)tCa>tTa p.S1085L SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.S1039L|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.S1085L|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371245.3_Intron Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 1085 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) GTGGATGCCTGAAGATGGCGT 0.562000 5 27 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 970701 970701 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:970701G>A ENST00000379370.2 + 3 558 c.508G>A c.(508-510)Gat>Aat p.D170N AGRN_ENST00000477585.1_3'UTR NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 170 axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GACGCCTCCTGATGGTGAGTA 0.597000 22 113 0 0 1 0 0 DRG1 4733 broad.mit.edu 37 22 31796663 31796663 + Missense_Mutation SNP C C T rs28369552 TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr22:31796663C>T ENST00000331457.4 + 2 261 c.100C>T c.(100-102)Cgt>Tgt p.R34C DRG1_ENST00000433341.1_3'UTR NM_004147.3 NP_004138.1 Q9Y295 DRG1_HUMAN developmentally regulated GTP binding protein 1 34 multicellular organismal development|transcription, DNA-dependent cytoplasm|intermediate filament cytoskeleton|nucleus GTP binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1) 11 GCTTAAGGCTCGTCTTGCTAA 0.458000 33 50 0 0 1 0 0 OR8B12 219858 broad.mit.edu 37 11 124412979 124412979 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:124412979G>A ENST00000306842.2 - 1 596 c.572C>T c.(571-573)tCt>tTt p.S191F NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 191 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) ATTCATGTAAGAGCTGTTGCA 0.458000 33 51 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100385706 100385706 + RNA SNP T T A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:100385706T>A ENST00000542585.1 + 0 7320 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CAGGAAGTGATTACCACCGTC 0.597000 4 56 0 0 1 0 0 BRPF1 7862 broad.mit.edu 37 3 9776368 9776368 + Silent SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:9776368C>A ENST00000383829.2 + 2 948 c.544C>A c.(544-546)Cgg>Agg p.R182R BRPF1_ENST00000302054.3_Silent_p.R182R|BRPF1_ENST00000457855.1_Silent_p.R182R|BRPF1_ENST00000433861.2_Silent_p.R182R|BRPF1_ENST00000424362.1_Silent_p.R182R NM_001003694.1 NP_001003694.1 P55201 BRPF1_HUMAN bromodomain and PHD finger containing, 1 182 Interaction with MYST3 and MYST4. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) GGTGGTCTATCGGGAGCTGGA 0.557000 30 54 1.80694e-10 1.92267e-10 1 1 0 ACLY 47 broad.mit.edu 37 17 40039486 40039486 + Splice_Site SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:40039486C>A ENST00000352035.2 - 20 2285 c.e20-1 ACLY_ENST00000590151.1_Splice_Site|ACLY_ENST00000537919.1_Splice_Site|ACLY_ENST00000353196.1_Splice_Site|ACLY_ENST00000393896.2_Splice_Site NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) TGCCCCCAATCTGCCAAGGAA 0.517000 26 37 1.33986e-20 1.46843e-20 1 1 0 PCDHA1 56147 broad.mit.edu 37 5 140166145 140166145 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:140166145C>T ENST00000504120.2 + 1 270 c.270C>T c.(268-270)atC>atT p.I90I PCDHA1_ENST00000394633.3_Silent_p.I90I|PCDHA1_ENST00000378133.3_Silent_p.I90I NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTCTCGGATCGATCGCGAGG 0.577000 6 104 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9229990 9229990 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr12:9229990G>A ENST00000318602.7 - 27 3610 c.3303C>T c.(3301-3303)ctC>ctT p.L1101L NM_000014.4 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin 1101 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) TATAGGCGGAGAGGGTCACTT 0.453000 5 10 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370306 35370306 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:35370306G>A ENST00000373347.1 - 3 947 c.679C>T c.(679-681)Cac>Tac p.H227Y DLGAP3_ENST00000235180.4_Missense_Mutation_p.H227Y O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 227 Poly-His. cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) tggtggtggtgatggtggtga 0.657000 5 70 0 0 1 0 0 MOCS3 27304 broad.mit.edu 37 20 49576560 49576560 + Nonsense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr20:49576560G>A ENST00000244051.1 + 1 1198 c.1181G>A c.(1180-1182)tGg>tAg p.W394* NM_014484.3 NP_055299.1 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 394 Rhodanese. enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 24 GAAGCAATCTGGGAAGAGAAG 0.498000 91 135 0 0 1 0 0 MOK 5891 broad.mit.edu 37 14 102749865 102749865 + Silent SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:102749865C>G ENST00000361847.2 - 2 303 c.72G>C c.(70-72)ctG>ctC p.L24L MOK_ENST00000522874.1_Silent_p.L24L|MOK_ENST00000193029.6_5'UTR|MOK_ENST00000524214.1_Silent_p.L24L NM_014226.1 NP_055041.1 Q9UQ07 MOK_HUMAN MOK protein kinase 24 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding TTCCATCTCTCAGGCTTTGCA 0.358000 28 42 0 0 1 0 0 DCAF12 25853 broad.mit.edu 37 9 34088417 34088417 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:34088417C>T ENST00000361264.4 - 9 1634 c.1293G>A c.(1291-1293)acG>acA p.T431T RP11-537H15.3_ENST00000448245.1_RNA NM_015397.3 NP_056212.1 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 431 centrosome|CUL4 RING ubiquitin ligase complex breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 11 CAAAGAGTTTCGTTCCAGACG 0.478000 8 210 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42049173 42049173 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:42049173C>T ENST00000372584.1 - 3 2310 c.1296G>A c.(1294-1296)ctG>ctA p.L432L HIVEP3_ENST00000247584.5_Silent_p.L432L|HIVEP3_ENST00000372583.1_Silent_p.L432L|HIVEP3_ENST00000429157.2_Silent_p.L432L NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 432 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) AGGTGGCTGTCAGCATGGCGG 0.617000 15 33 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29747377 29747377 + Missense_Mutation SNP C C T rs147020336 TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:29747377C>T ENST00000375398.2 - 39 6993 c.6544G>A c.(6544-6546)Gac>Aac p.D2182N PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.D1096N|SVIL_ENST00000355867.4_Missense_Mutation_p.D2182N|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.D1756N|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA O95425 SVIL_HUMAN supervillin 2182 HP. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding p.D2182N(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) AAGTCTTCGTCGGTGAGATAG 0.597000 5 44 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20039688 20039688 + Nonsense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr13:20039688G>A ENST00000400230.2 - 8 573 c.529C>T c.(529-531)Cga>Tga p.R177* TPTE2_ENST00000382978.1_Nonsense_Mutation_p.R137*|TPTE2_ENST00000400103.2_Nonsense_Mutation_p.R66*|TPTE2_ENST00000457266.2_Nonsense_Mutation_p.R66*|TPTE2_ENST00000382977.4_Nonsense_Mutation_p.R177*|TPTE2_ENST00000390680.2_Nonsense_Mutation_p.R100*|TPTE2_ENST00000382975.4_Nonsense_Mutation_p.R137*|TPTE2_ENST00000255310.6_Nonsense_Mutation_p.R100* Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 177 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) CGTAGAAGTCGAACTAAATGT 0.313000 17 22 0 0 1 0 0 PCSK7 9159 broad.mit.edu 37 11 117094889 117094889 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:117094889C>G ENST00000320934.3 - 8 1589 c.959G>C c.(958-960)gGg>gCg p.G320A NM_004716.2 NP_004707.2 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 320 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) AAAGATGCTCCCAAAGCCCTG 0.547000 T IGH@ MLCLS 13 27 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146242491 146242491 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:146242491C>T ENST00000367503.3 - 21 4230 c.3832G>A c.(3832-3834)Gaa>Aaa p.E1278K SHPRH_ENST00000275233.7_Missense_Mutation_p.E1274K|SHPRH_ENST00000438092.2_Missense_Mutation_p.E1278K|SHPRH_ENST00000367505.2_Missense_Mutation_p.E1274K NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 1274 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TCTTCATCTTCTATCATCTCC 0.433000 4 25 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46930167 46930167 + Missense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr22:46930167C>A ENST00000262738.3 - 1 2900 c.2901G>T c.(2899-2901)tgG>tgT p.W967C CELSR1_ENST00000395964.1_Missense_Mutation_p.W967C NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 967 Cadherin 7. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CAGCCAGAGCCCAAAGGTTGT 0.597000 20 19 5.26018e-13 5.67975e-13 1 1 0 BHLHB9 80823 broad.mit.edu 37 X 102004757 102004757 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chrX:102004757C>T ENST00000372735.1 + 4 1419 c.834C>T c.(832-834)atC>atT p.I278I BHLHB9_ENST00000361229.4_Silent_p.I278I|BHLHB9_ENST00000448867.1_Silent_p.I278I|BHLHB9_ENST00000447531.1_Silent_p.I278I|BHLHB9_ENST00000457056.1_Silent_p.I278I Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 278 cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CACAGCCTATCCCTGAGTGTC 0.483000 20 53 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123900853 123900853 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:123900853G>C ENST00000373855.1 + 16 2493 c.2233G>C c.(2233-2235)Gag>Cag p.E745Q CNTRL_ENST00000373847.1_Missense_Mutation_p.E193Q|CNTRL_ENST00000238341.5_Missense_Mutation_p.E745Q|CNTRL_ENST00000373850.1_Missense_Mutation_p.E193Q Q7Z7A1 CNTRL_HUMAN centriolin 745 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 AGCAGAACTTGAGAAGGAAAG 0.398000 13 51 0 0 1 0 0 OR5T1 390155 broad.mit.edu 37 11 56043601 56043601 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:56043601G>A ENST00000313033.2 + 1 573 c.487G>A c.(487-489)Gct>Act p.A163T NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) TTCCTATGTTGCTAGCATTTT 0.428000 101 170 0 0 1 0 0 ZDHHC3 51304 broad.mit.edu 37 3 45000794 45000794 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:45000794G>A ENST00000296127.3 - 2 408 c.135C>T c.(133-135)atC>atT p.I45I ZDHHC3_ENST00000424952.2_Silent_p.I45I|ZDHHC3_ENST00000342790.4_Silent_p.I45I NM_016598.2 NP_057682.1 Q9NYG2 ZDHC3_HUMAN zinc finger, DHHC-type containing 3 45 Golgi membrane|integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665) TGGCACAGGCGATGCCACAGC 0.537000 14 105 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:7578406C>T ENST00000420246.2 - 5 656 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 175 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY) 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) 48 15 0 0 1 0 0 TMEM175 84286 broad.mit.edu 37 4 947001 947001 + Missense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:947001C>A ENST00000264771.4 + 8 671 c.486C>A c.(484-486)ttC>ttA p.F162L TMEM175_ENST00000508204.1_Missense_Mutation_p.F80L|TMEM175_ENST00000515740.1_Missense_Mutation_p.F46L|TMEM175_ENST00000504180.1_3'UTR NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 162 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GGTACGCATTCCACTTCCCGC 0.657000 4 25 0.00909568 0.00922183 1 1 0 HIPK4 147746 broad.mit.edu 37 19 40886303 40886303 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:40886303G>A ENST00000291823.2 - 3 1879 c.1595C>T c.(1594-1596)tCt>tTt p.S532F NM_144685.3 NP_653286.2 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 532 cytoplasm ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) TGGCTCAGCAGAGGCCCCGAG 0.607000 7 68 0 0 1 0 0 TGM2 7052 broad.mit.edu 37 20 36793594 36793594 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr20:36793594C>T ENST00000361475.2 - 1 180 c.7G>A c.(7-9)Gag>Aag p.E3K TGM2_ENST00000536701.1_Missense_Mutation_p.E3K|TGM2_ENST00000536724.1_Missense_Mutation_p.E3K NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 3 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) TACTCACCCTCGGCCATGGTC 0.687000 18 24 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111603734 111603734 + Silent SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:111603734C>G ENST00000431670.2 + 2 1221 c.810C>G c.(808-810)ctC>ctG p.L270L PHLDB2_ENST00000393923.3_Silent_p.L297L|PHLDB2_ENST00000478922.1_Silent_p.L270L|PHLDB2_ENST00000393925.3_Silent_p.L270L|PHLDB2_ENST00000477695.1_Silent_p.L270L|PHLDB2_ENST00000412622.1_Silent_p.L270L|PHLDB2_ENST00000481953.1_Silent_p.L270L NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 270 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TGACACCTCTCAGCTTGCCTC 0.478000 13 53 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47500910 47500910 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr18:47500910G>A ENST00000285039.7 - 10 1431 c.1132C>T c.(1132-1134)Cat>Tat p.H378Y NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 378 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) AGCTTGCGATGACACAGCCAG 0.577000 49 37 0 0 1 0 0 WIPF3 644150 broad.mit.edu 37 7 29915522 29915522 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:29915522G>A ENST00000409290.1 + 2 167 c.167G>A c.(166-168)gGa>gAa p.G56E WIPF3_ENST00000409123.1_Missense_Mutation_p.G56E|WIPF3_ENST00000242140.5_Missense_Mutation_p.G56E NM_001080529.2 NP_001073998.2 B8ZZV2 B8ZZV2_HUMAN WAS/WASL interacting protein family, member 3 56 breast(2)|large_intestine(3)|lung(6)|ovary(1) 12 ATCCAGCAAGGAACTCGCCTG 0.582000 9 58 0 0 1 0 0 TMCO3 55002 broad.mit.edu 37 13 114150069 114150069 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr13:114150069C>T ENST00000434316.2 + 2 532 c.173C>T c.(172-174)tCa>tTa p.S58L TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.S58L NM_017905.4 NP_060375.4 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 58 integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) AGGAAGCTCTCAGGGCTTCTC 0.582000 12 18 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79269994 79269994 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:79269994G>C ENST00000554719.1 + 6 1448 c.957G>C c.(955-957)atG>atC p.M319I NRXN3_ENST00000335750.5_Missense_Mutation_p.M319I NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) ATGGTAGCATGTACATGAAGA 0.498000 49 75 0 0 1 0 0 CREBZF 58487 broad.mit.edu 37 11 85374910 85374910 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:85374910G>A ENST00000527447.1 - 1 1236 c.1010C>T c.(1009-1011)tCg>tTg p.S337L CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_Missense_Mutation_p.S255L NM_001039618.2 NP_001034707.1 Q9NS37 ZHANG_HUMAN CREB/ATF bZIP transcription factor 337 negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) GAACTCCACCGACACCTTATC 0.562000 OREG0021274 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 122 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43944794 43944794 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr12:43944794G>A ENST00000389420.3 - 2 370 c.371C>T c.(370-372)tCg>tTg p.S124L ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S124L NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 124 proteinaceous extracellular matrix zinc ion binding p.S124*(2) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GCGCAGGTCCGAGGGCCCTGC 0.667000 10 5 0 0 1 0 0 ZBTB38 253461 broad.mit.edu 37 3 141163197 141163197 + Missense_Mutation SNP G G T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:141163197G>T ENST00000514251.1 + 4 2246 c.1967G>T c.(1966-1968)gGa>gTa p.G656V ZBTB38_ENST00000441582.2_Missense_Mutation_p.G656V|ZBTB38_ENST00000321464.5_Missense_Mutation_p.G657V Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 656 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 ACCAAATGGGGAGAGGAGGCA 0.468000 20 119 1.00905e-13 1.09114e-13 1 1 0 C10orf12 26148 broad.mit.edu 37 10 98742417 98742417 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:98742417G>C ENST00000286067.2 + 1 1377 c.1270G>C c.(1270-1272)Gag>Cag p.E424Q NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 424 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) TGCTGAGGTTGAGTCTGGAGA 0.512000 10 150 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44921538 44921538 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:44921538C>T ENST00000261866.7 - 9 1800 c.1784G>A c.(1783-1785)aGa>aAa p.R595K SPG11_ENST00000559193.1_Missense_Mutation_p.R595K|SPG11_ENST00000427534.2_Missense_Mutation_p.R595K|SPG11_ENST00000535302.2_Missense_Mutation_p.R595K|SPG11_ENST00000558319.1_Missense_Mutation_p.R595K NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 595 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) ATAACTTTCTCTAATTGCCGA 0.358000 4 77 0 0 1 0 0 RHOT1 55288 broad.mit.edu 37 17 30525994 30525994 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:30525994G>A ENST00000358365.3 + 12 1125 c.898G>A c.(898-900)Gaa>Aaa p.E300K RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000581094.1_Missense_Mutation_p.E300K|RHOT1_ENST00000354266.3_Missense_Mutation_p.E279K|RHOT1_ENST00000545287.2_Missense_Mutation_p.E300K|RHOT1_ENST00000394692.2_Missense_Mutation_p.E300K|RHOT1_ENST00000583994.1_Missense_Mutation_p.E173K|RHOT1_ENST00000333942.6_Missense_Mutation_p.E300K NM_001033568.1 NP_001028740.1 Q8IXI2 MIRO1_HUMAN ras homolog family member T1 300 apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) TTGCACTACTGAATTAAATCA 0.259000 26 82 0 0 1 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354112 45354112 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr20:45354112G>A ENST00000359271.2 + 2 687 c.437G>A c.(436-438)gGc>gAc p.G146D NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 146 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) ATCACCGTGGGCATCCTGCTC 0.622000 20 99 0 0 1 0 0 PLEKHA3 65977 broad.mit.edu 37 2 179368594 179368594 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:179368594C>T ENST00000234453.5 + 8 1285 c.883C>T c.(883-885)Ctt>Ttt p.L295F NM_019091.3 NP_061964.3 Q9HB20 PKHA3_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 cytoplasm|membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865) AGAAGATACTCTTCCATCCTT 0.368000 9 63 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58256149 58256149 + Silent SNP G G A rs114347273 by1000genomes TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:58256149G>A ENST00000249750.4 - 9 1787 c.1020C>T c.(1018-1020)agC>agT p.S340S ALDH1A2_ENST00000347587.3_Silent_p.S302S|ALDH1A2_ENST00000558231.1_Silent_p.S311S|ALDH1A2_ENST00000559517.1_Silent_p.S244S|ALDH1A2_ENST00000537372.1_Silent_p.S319S NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 340 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CCCGCTCCACGCTTCTTCTCA 0.542000 26 84 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47583998 47583998 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:47583998G>A ENST00000273859.3 + 21 3939 c.3670G>A c.(3670-3672)Gac>Aac p.D1224N ATP10D_ENST00000512393.1_3'UTR NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1224 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 CTCAGATACTGACATCTTTGC 0.463000 37 99 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49440294 49440294 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:49440294G>A ENST00000374201.3 - 10 1334 c.1032C>T c.(1030-1032)ctC>ctT p.L344L FRMPD2_ENST00000407470.4_Silent_p.L313L|FRMPD2_ENST00000305531.3_Silent_p.L320L NM_001018071.3|NM_001042512.2 NP_001018081|NP_001035977.2 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 344 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GGACCACACAGAGGTCCCTGA 0.448000 20 46 0 0 1 0 0 LUC7L 55692 broad.mit.edu 37 16 270656 270656 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:270656C>G ENST00000337351.4 - 3 370 c.247G>C c.(247-249)Gaa>Caa p.E83Q LUC7L_ENST00000293872.8_Missense_Mutation_p.E83Q|LUC7L_ENST00000397783.1_Missense_Mutation_p.E83Q|LUC7L_ENST00000397780.1_Missense_Mutation_p.E30Q|LUC7L_ENST00000494366.1_5'UTR NM_018032.3 NP_060502.1 Q9NQ29 LUC7L_HUMAN LUC7-like (S. cerevisiae) 83 metal ion binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 11 all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306) ACATCTAATTCAAAAAACAGG 0.353000 60 98 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106066677 106066677 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chrX:106066677C>G ENST00000357242.5 + 5 982 c.808C>G c.(808-810)Cct>Gct p.P270A TBC1D8B_ENST00000310452.2_Missense_Mutation_p.P270A|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.P270A|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.P270A NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 270 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CCTTTATAATCCTCTACAGAT 0.313000 55 21 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139918544 139918544 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:139918544C>G ENST00000297183.6 + 33 7569 c.7445C>G c.(7444-7446)tCt>tGt p.S2482C ANKHD1_ENST00000360839.2_Missense_Mutation_p.S2482C|ANKHD1_ENST00000544120.1_Missense_Mutation_p.S806C|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S2482C NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATAATACCCTCTCATCCTCAG 0.363000 14 29 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36696992 36696992 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr22:36696992C>T ENST00000216181.5 - 22 2973 c.2743G>A c.(2743-2745)Gag>Aag p.E915K NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 915 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TGGCAGATCTCTTCTAATTCC 0.607000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 54 76 0 0 1 0 0 CRTC3 64784 broad.mit.edu 37 15 91182020 91182020 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:91182020G>A ENST00000420329.2 + 13 1668 c.1521G>A c.(1519-1521)atG>atA p.M507I CRTC3_ENST00000268184.6_Missense_Mutation_p.M507I|RP11-387D10.2_ENST00000559531.1_RNA NM_001042574.2|NM_022769.4 NP_001036039.1|NP_073606.3 Q6UUV7 CRTC3_HUMAN CREB regulated transcription coactivator 3 507 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) AGCAGTCCATGAGGCCAGGCC 0.488000 T MAML2 salivary gland mucoepidermoid 4 64 0 0 1 0 0 OR13F1 138805 broad.mit.edu 37 9 107266864 107266864 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:107266864G>A ENST00000334726.2 + 1 410 c.321G>A c.(319-321)atG>atA p.M107I NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 CCCTTGCCATGGGCTCCACTG 0.522000 25 41 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803228 185803228 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:185803228G>A ENST00000302277.6 + 4 3699 c.3105G>A c.(3103-3105)ttG>ttA p.L1035L NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1035 intracellular zinc ion binding p.L1035F(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AAGCATTATTGATCCCACTAG 0.413000 40 65 0 0 1 0 0 MRPL43 84545 broad.mit.edu 37 10 102741296 102741296 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:102741296G>A ENST00000299179.5 - 5 583 c.533C>T c.(532-534)tCa>tTa p.S178L SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000342071.1_Silent_p.I220I|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000370250.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000210633.3_Intron NM_176793.1 NP_789763.1 Q8N983 RM43_HUMAN mitochondrial ribosomal protein L43 178 translation mitochondrial ribosome protein binding|structural constituent of ribosome endometrium(1)|skin(2)|upper_aerodigestive_tract(1) 4 Colorectal(252;0.234) Epithelial(162;6.21e-09)|all cancers(201;3.14e-07) TGACTGAACTGATATCTGAAG 0.398000 18 70 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9459591 9459591 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr20:9459591G>A ENST00000378501.2 + 36 3535 c.3520G>A c.(3520-3522)Gaa>Aaa p.E1174K PLCB4_ENST00000278655.4_Silent_p.V1161V|PLCB4_ENST00000334005.3_Missense_Mutation_p.E1174K|PLCB4_ENST00000414679.2_Silent_p.V1173V|PLCB4_ENST00000378493.1_Silent_p.V1161V|PLCB4_ENST00000378473.3_Silent_p.V1173V|PLCB4_ENST00000492632.1_3'UTR NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 507 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AGCAGATGGTGAAATTGGAAG 0.458000 8 36 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169212970 169212970 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:169212970G>C ENST00000393743.3 - 8 1261 c.970C>G c.(970-972)Ctt>Gtt p.L324V NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 324 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CTTTGAGAAAGAGGCAGATGG 0.378000 5 106 0 0 1 0 0 PTCD3 55037 broad.mit.edu 37 2 86364195 86364195 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:86364195C>T ENST00000254630.7 + 23 1977 c.1911C>T c.(1909-1911)ttC>ttT p.F637F NM_017952.5 NP_060422.4 Q96EY7 PTCD3_HUMAN pentatricopeptide repeat domain 3 637 mitochondrion protein binding NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 22 CAAGTGCCTTCAGCTTACCTA 0.438000 27 169 0 0 1 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4455916 4455916 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:4455916C>T ENST00000254718.4 - 6 873 c.567G>A c.(565-567)tcG>tcA p.S189S MYBBP1A_ENST00000381556.2_Silent_p.S189S Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 189 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 ATGTGGCCTTCGAGACCTAAG 0.572000 8 33 0 0 1 0 0 AGPS 8540 broad.mit.edu 37 2 178301571 178301571 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:178301571C>T ENST00000264167.4 + 4 667 c.521C>T c.(520-522)tCa>tTa p.S174L AGPS_ENST00000409888.1_Intron NM_003659.3 NP_003650.1 O00116 ADAS_HUMAN alkylglycerone phosphate synthase 174 ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) ACTAATATTTCATATTCACAA 0.284000 6 110 0 0 1 0 0 DGCR2 9993 broad.mit.edu 37 22 19044633 19044633 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr22:19044633G>A ENST00000263196.7 - 6 915 c.668C>T c.(667-669)tCg>tTg p.S223L DGCR2_ENST00000473832.1_5'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.S182L|DGCR2_ENST00000545799.1_3'UTR NM_001184781.1|NM_005137.2 NP_001171710.1|NP_005128.1 P98153 IDD_HUMAN DiGeorge syndrome critical region gene 2 223 C-type lectin. cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1) 18 Colorectal(54;0.0993) AGACATGGCCGAGGCAAAGAT 0.592000 4 13 0 0 1 0 0 S1PR1 1901 broad.mit.edu 37 1 101704981 101704981 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:101704981G>A ENST00000305352.6 + 2 816 c.441G>A c.(439-441)ctG>ctA p.L147L S1PR1_ENST00000475821.1_3'UTR NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 147 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 TCACAATGCTGAAAATGAAAC 0.557000 OREG0013620 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 52 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22178416 22178416 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:22178416G>A ENST00000374695.3 - 54 6953 c.6874C>T c.(6874-6876)Cgt>Tgt p.R2292C HSPG2_ENST00000430507.1_3'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2292 Ig-like C2-type 8. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CGGGAGCCACGAACCTGGGCA 0.672000 7 14 0 0 1 0 0 EN1 2019 broad.mit.edu 37 2 119600601 119600601 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:119600601G>C ENST00000295206.6 - 2 1602 c.1092C>G c.(1090-1092)atC>atG p.I364M NM_001426.3 NP_001417.3 Q05925 HME1_HUMAN engrailed homeobox 1 364 skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 9 GGCCGTTCTTGATGCCTGTGG 0.612000 8 43 0 0 1 0 0 COG3 83548 broad.mit.edu 37 13 46103990 46103990 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr13:46103990G>A ENST00000349995.5 + 21 2407 c.2295G>A c.(2293-2295)ttG>ttA p.L765L NM_031431.3 NP_113619 Q96JB2 COG3_HUMAN component of oligomeric golgi complex 3 765 ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER cis-Golgi network|Golgi cisterna membrane|Golgi transport complex protein binding|protein transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1) 24 Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000124) CTGTGACATTGAGAAGTATGT 0.388000 38 25 0 0 1 0 0 LDB2 9079 broad.mit.edu 37 4 16590352 16590352 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:16590352C>G ENST00000502640.1 - 4 660 c.512G>C c.(511-513)aGa>aCa p.R171T LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000304523.5_Missense_Mutation_p.R171T|LDB2_ENST00000503178.2_Missense_Mutation_p.R47T|LDB2_ENST00000515064.1_Missense_Mutation_p.R171T|LDB2_ENST00000441778.2_Missense_Mutation_p.R171T O43679 LDB2_HUMAN LIM domain binding 2 171 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 TAGGATGCTTCTCGGGACTAA 0.393000 6 62 0 0 1 0 0 APOL1 8542 broad.mit.edu 37 22 36661254 36661254 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr22:36661254G>A ENST00000319136.4 + 7 687 c.420G>A c.(418-420)atG>atA p.M140I APOL1_ENST00000397278.3_Missense_Mutation_p.M124I|APOL1_ENST00000347595.7_Missense_Mutation_p.M3I|APOL1_ENST00000397279.4_Missense_Mutation_p.M124I|APOL1_ENST00000422706.1_Missense_Mutation_p.M124I|APOL1_ENST00000426053.1_Missense_Mutation_p.M106I|APOL1_ENST00000440669.2_3'UTR NM_145343.2 NP_663318.1 O14791 APOL1_HUMAN apolipoprotein L, 1 124 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 AAATGATCATGAAAGACAAAA 0.428000 21 68 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222414 140222414 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:140222414C>T ENST00000531613.1 + 1 1508 c.1508C>T c.(1507-1509)tCg>tTg p.S503L PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S503L|PCDHA6_ENST00000529310.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGAGCGCTCGCTGTCGAGC 0.667000 39 30 0 0 1 0 0 CTNNAL1 8727 broad.mit.edu 37 9 111746665 111746665 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:111746665G>A ENST00000374595.4 - 5 770 c.691C>T c.(691-693)Ctt>Ttt p.L231F CTNNAL1_ENST00000325580.6_Missense_Mutation_p.L231F|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.L231F Q9UBT7 CTNL1_HUMAN catenin (cadherin-associated protein), alpha-like 1 231 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(157;0.0768) CACTTTTCAAGAACTGCCCTA 0.348000 32 106 0 0 1 0 0 BMPR1A 657 broad.mit.edu 37 10 88651946 88651946 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:88651946C>T ENST00000372037.3 + 5 830 c.293C>T c.(292-294)tCa>tTa p.S98L NM_004329.2 NP_004320.2 P36894 BMR1A_HUMAN bone morphogenetic protein receptor, type IA BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway integral to membrane|plasma membrane ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 ACATTAGCTTCAGGGTGTATG 0.363000 """Mis, N, F""" gastrointestinal polyps Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2 9 28 0 0 1 0 0 SCAPER 49855 broad.mit.edu 37 15 76673922 76673922 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:76673922G>A ENST00000538941.2 - 28 3703 c.2764C>T c.(2764-2766)Ccc>Tcc p.P922S SCAPER_ENST00000324767.7_Missense_Mutation_p.P1168S|SCAPER_ENST00000563290.1_Missense_Mutation_p.P1168S NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 1167 endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 AGCCCTGTGGGATCCTGGCGA 0.453000 4 13 0 0 1 0 0 ZNF133 7692 broad.mit.edu 37 20 18297183 18297183 + Nonsense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr20:18297183C>G ENST00000377671.3 + 7 2244 c.1685C>G c.(1684-1686)tCa>tGa p.S562* ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000538547.1_Nonsense_Mutation_p.S468*|ZNF133_ENST00000401790.1_Nonsense_Mutation_p.S563*|ZNF133_ENST00000316358.4_Nonsense_Mutation_p.S563*|ZNF133_ENST00000396026.3_Nonsense_Mutation_p.S566*|ZNF133_ENST00000535822.1_Nonsense_Mutation_p.S468*|ZNF133_ENST00000402618.2_Nonsense_Mutation_p.S500* NM_001083330.2|NM_003434.4 NP_001076799.1|NP_003425 P52736 ZN133_HUMAN zinc finger protein 133 563 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 GGCAATAAGTCAGCTCTAATT 0.542000 23 51 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95556077 95556077 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr8:95556077G>A ENST00000297591.5 - 2 232 c.157C>T c.(157-159)Ctg>Ttg p.L53L KIAA1429_ENST00000421249.2_Silent_p.L53L|KIAA1429_ENST00000437199.1_Silent_p.L53L NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 53 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TTGTCTGGCAGACTGCTATGG 0.358000 38 166 0 0 1 0 0 C1orf198 84886 broad.mit.edu 37 1 231004195 231004195 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:231004195G>C ENST00000366663.5 - 1 204 c.64C>G c.(64-66)Ctg>Gtg p.L22V C1orf198_ENST00000470540.1_Intron|C1orf198_ENST00000427697.2_Intron NM_032800.2 NP_116189.1 Q9H425 CA198_HUMAN chromosome 1 open reading frame 198 22 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 17 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) CGGTCGTCCAGAGGCCGGTTC 0.697000 5 10 0 0 1 0 0 KCTD6 200845 broad.mit.edu 37 3 58486802 58486802 + Nonsense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:58486802C>T ENST00000355076.6 + 2 1140 c.157C>T c.(157-159)Caa>Taa p.Q53* KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000404589.3_Nonsense_Mutation_p.Q53*|KCTD6_ENST00000490264.1_Nonsense_Mutation_p.Q53* NM_153331.3 NP_699162.3 Q8NC69 KCTD6_HUMAN potassium channel tetramerization domain containing 6 53 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(1)|large_intestine(2)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148) TCGAGACCCTCAAGGCAATTA 0.453000 40 77 0 0 1 0 0 ZC3H14 79882 broad.mit.edu 37 14 89034385 89034385 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:89034385G>A ENST00000251038.5 + 3 307 c.82G>A c.(82-84)Gaa>Aaa p.E28K ZC3H14_ENST00000336693.4_5'UTR|ZC3H14_ENST00000555755.1_Missense_Mutation_p.E28K|ZC3H14_ENST00000359301.3_5'UTR|ZC3H14_ENST00000393514.5_Missense_Mutation_p.E28K|ZC3H14_ENST00000302216.8_Missense_Mutation_p.E28K|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000556945.1_Missense_Mutation_p.E28K NM_001160103.1|NM_001160104.1|NM_024824.4 NP_001153575.1|NP_001153576.1|NP_079100.2 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 28 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 TTAAATAGATGAAGAACTTCC 0.363000 8 36 0 0 1 0 0 ZNF10 7556 broad.mit.edu 37 12 133732614 133732614 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr12:133732614G>C ENST00000248211.6 + 5 1004 c.782G>C c.(781-783)aGa>aCa p.R261T ZNF10_ENST00000426665.2_Missense_Mutation_p.R261T|ZNF10_ENST00000402932.2_Intron|ZNF268_ENST00000416488.1_Intron|CTD-2140B24.4_ENST00000540096.2_Intron NM_015394.4 NP_056209.2 P21506 ZNF10_HUMAN zinc finger protein 10 261 Missing (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) GGCATACATAGAGAGAAACCC 0.393000 12 51 0 0 1 0 0 ACTR1B 10120 broad.mit.edu 37 2 98274919 98274919 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:98274919C>T ENST00000289228.5 - 6 844 c.628G>A c.(628-630)Gag>Aag p.E210K NM_005735.3 NP_005726.1 P42025 ACTY_HUMAN ARP1 actin-related protein 1 homolog B, centractin beta (yeast) 210 centrosome|dynactin complex ATP binding|protein binding endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 15 ACCTCAAACTCAGCCGAGGTA 0.617000 7 30 0 0 1 0 0 LPP 4026 broad.mit.edu 37 3 188327169 188327169 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:188327169C>T ENST00000312675.4 + 6 896 c.650C>T c.(649-651)tCa>tTa p.S217L LPP_ENST00000543006.1_Missense_Mutation_p.S217L|LPP_ENST00000448637.1_Missense_Mutation_p.S217L|LPP_ENST00000471917.1_3'UTR NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 217 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) TCCACTTCTTCAAGGCCTACC 0.592000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 12 91 0 0 1 0 0 SLC25A16 8034 broad.mit.edu 37 10 70276532 70276532 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:70276532G>A ENST00000609923.1 - 2 297 c.199C>T c.(199-201)Cac>Tac p.H67Y SLC25A16_ENST00000539557.1_5'UTR|SLC25A16_ENST00000265870.3_5'UTR NM_152707.3 NP_689920.1 P16260 GDC_HUMAN solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16 coenzyme biosynthetic process|pantothenate metabolic process integral to membrane|mitochondrial inner membrane binding|solute:solute antiporter activity endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 7 TGGTGATTGTGAGCTTGTAAT 0.333000 15 33 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158735144 158735144 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:158735144G>A ENST00000367097.3 + 1 1453 c.96G>A c.(94-96)gaG>gaA p.E32E TULP4_ENST00000367094.2_Silent_p.E32E NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 32 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) GTGAGAAGGAGAAGCCTGTGT 0.572000 14 27 0 0 1 0 0 CPD 1362 broad.mit.edu 37 17 28747979 28747979 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:28747979C>T ENST00000225719.4 + 3 1191 c.1115C>T c.(1114-1116)tCt>tTt p.S372F CPD_ENST00000543464.2_Missense_Mutation_p.S125F NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 372 Carboxypeptidase-like 1. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 AATCGTGAGTCTTTGATCACA 0.398000 5 61 0 0 1 0 0 G2E3 55632 broad.mit.edu 37 14 31074728 31074728 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:31074728G>C ENST00000206595.6 + 11 1182 c.1028G>C c.(1027-1029)aGa>aCa p.R343T G2E3_ENST00000544007.1_Intron|G2E3_ENST00000438909.2_Missense_Mutation_p.R297T|G2E3_ENST00000553504.1_Missense_Mutation_p.R373T NM_017769.3 NP_060239.2 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin protein ligase 343 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 AGCAAATTTAGAAGAAATGTA 0.269000 8 28 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113724603 113724603 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:113724603G>A ENST00000295878.3 - 10 1766 c.1620C>T c.(1618-1620)acC>acT p.T540T KIAA1407_ENST00000545063.1_Silent_p.T371T NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 540 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 CTTTCTGGCTGGTAGTTCTGA 0.507000 9 220 0 0 1 0 0 MROH9 80133 broad.mit.edu 37 1 170965666 170965666 + Silent SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:170965666G>C ENST00000367759.4 + 14 1510 c.1356G>C c.(1354-1356)ctG>ctC p.L452L MROH9_ENST00000367758.3_Silent_p.L452L NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 AGGATGCCCTGAGAGTTCTGC 0.418000 20 109 0 0 1 0 0 CELF6 60677 broad.mit.edu 37 15 72581516 72581516 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:72581516G>A ENST00000287202.5 - 8 1247 c.993C>T c.(991-993)tcC>tcT p.S331S CELF6_ENST00000567083.1_Silent_p.S331S|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000569547.1_Silent_p.S331S|CELF6_ENST00000539635.1_Silent_p.S192S|CELF6_ENST00000543764.2_Silent_p.S215S|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000395258.2_Silent_p.S218S NM_052840.4 NP_443072.3 Q96J87 CELF6_HUMAN CUGBP, Elav-like family member 6 331 mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2) 13 AGAGCGTGTCGGAGCCCGGCT 0.692000 3 5 0 0 1 0 0 TSNARE1 203062 broad.mit.edu 37 8 143396398 143396398 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr8:143396398G>A ENST00000519651.1 - 6 483 c.380C>T c.(379-381)tCa>tTa p.S127L TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000520166.1_Missense_Mutation_p.S346L|TSNARE1_ENST00000307180.3_Missense_Mutation_p.S347L|TSNARE1_ENST00000524325.1_Missense_Mutation_p.S346L Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 347 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) AATGGCATCTGAGAGCTGGGT 0.647000 11 72 0 0 1 0 0 SERPINA13P 388007 broad.mit.edu 37 14 95108138 95108138 + RNA SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:95108138G>A ENST00000469935.1 + 0 743 NR_015340.1 ACACATTGACGAATATACAGA 0.622000 62 91 0 0 1 0 0 CCDC87 55231 broad.mit.edu 37 11 66360334 66360334 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:66360334C>T ENST00000333861.3 - 1 220 c.153G>A c.(151-153)gcG>gcA p.A51A CCS_ENST00000533244.1_5'UTR NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 51 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 CCGTCAGCTTCGCCAGAGGGA 0.677000 OREG0021111 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 49 0 0 1 0 0 SMARCB1 6598 broad.mit.edu 37 22 24129380 24129380 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr22:24129380G>C ENST00000344921.6 + 1 231 c.24G>C c.(22-24)aaG>aaC p.K8N SMARCB1_ENST00000407082.3_Missense_Mutation_p.K8N|SMARCB1_ENST00000407422.3_Missense_Mutation_p.K8N|SMARCB1_ENST00000263121.7_Missense_Mutation_p.K8N Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 8 cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex p53 binding p.?(2) bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194) 458 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) CGCTGAGCAAGACCTTCGGGC 0.711000 """D, N, F, S""" malignant rhabdoid malignant rhabdoid 11 38 0 0 1 0 0 NPFFR2 10886 broad.mit.edu 37 4 72994488 72994488 + Missense_Mutation SNP G G T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:72994488G>T ENST00000308744.6 + 2 584 c.486G>T c.(484-486)atG>atT p.M162I NPFFR2_ENST00000358749.3_Missense_Mutation_p.M60I|NPFFR2_ENST00000395999.1_Missense_Mutation_p.M63I|NPFFR2_ENST00000344413.5_Intron NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 162 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TTTTGTGCATGATGGGAAATA 0.358000 22 136 3.5997e-14 3.89834e-14 1 1 0 DNASE1L3 1776 broad.mit.edu 37 3 58196496 58196496 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:58196496C>T ENST00000483681.1 - 3 719 c.138G>A c.(136-138)gtG>gtA p.V46V DNASE1L3_ENST00000394549.2_Silent_p.V46V|DNASE1L3_ENST00000486455.1_Silent_p.V46V|DNASE1L3_ENST00000318316.3_Silent_p.V46V Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 46 apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) GGCTCACCTTCACAATGACAT 0.537000 12 299 0 0 1 0 0 SLC25A27 9481 broad.mit.edu 37 6 46644175 46644175 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:46644175G>A ENST00000371347.5 + 9 1208 c.956G>A c.(955-957)gGa>gAa p.G319E RP11-446F17.3_ENST00000571590.1_RNA|SLC25A27_ENST00000411689.2_Intron|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA|SLC25A27_ENST00000452689.2_Missense_Mutation_p.G233E NM_001204051.1|NM_004277.4 NP_001190980.1|NP_004268.3 O95847 UCP4_HUMAN solute carrier family 25, member 27 319 generation of precursor metabolites and energy|transport integral to membrane|mitochondrial inner membrane central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1) 8 Lung(136;0.192) GAGATGAGTGGAGTCAGTCCA 0.368000 20 87 0 0 1 0 0 RBBP5 5929 broad.mit.edu 37 1 205070807 205070807 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:205070807G>C ENST00000264515.6 - 6 694 c.553C>G c.(553-555)Ctt>Gtt p.L185V RBBP5_ENST00000367164.1_Missense_Mutation_p.L185V NM_001193273.1|NM_005057.3 NP_001180202.1|NP_005048.2 Q15291 RBBP5_HUMAN retinoblastoma binding protein 5 185 histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent MLL1 complex|Set1C/COMPASS complex methylated histone residue binding|transcription regulatory region DNA binding cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 27 Breast(84;0.0505) BRCA - Breast invasive adenocarcinoma(75;0.0923) GAAGCAACAAGATCCTGAGAA 0.393000 59 122 0 0 1 0 0 FOXD4L1 200350 broad.mit.edu 37 2 114257298 114257298 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:114257298C>T ENST00000306507.5 + 1 638 c.465C>T c.(463-465)atC>atT p.I155I NM_012184.4 NP_036316.1 Q9NU39 FX4L1_HUMAN forkhead box D4-like 1 155 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2) 26 AGAACAGCATCCGCCACAACC 0.662000 11 276 0 0 1 0 0 SERPINA7 6906 broad.mit.edu 37 X 105281031 105281031 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chrX:105281031G>A ENST00000327674.4 - 1 354 c.19C>T c.(19-21)Ctg>Ttg p.L7L SERPINA7_ENST00000372563.1_Silent_p.L7L P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 7 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) AAGAGAACCAGATACAGGAAT 0.458000 7 59 0 0 1 0 0 QRICH1 54870 broad.mit.edu 37 3 49081854 49081854 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:49081854C>T ENST00000395443.2 - 6 2227 c.1755G>A c.(1753-1755)ctG>ctA p.L585L QRICH1_ENST00000357496.2_Silent_p.L585L|QRICH1_ENST00000424300.1_Silent_p.L585L|QRICH1_ENST00000479449.1_5'UTR NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 585 breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GAACATCCTTCAGAACTTCAT 0.403000 7 188 0 0 1 0 0 CAST 831 broad.mit.edu 37 5 96086315 96086315 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:96086315C>T ENST00000395813.1 + 20 1639 c.1453C>T c.(1453-1455)Cct>Tct p.P485S CAST_ENST00000515663.1_Missense_Mutation_p.P125S|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000325674.7_Missense_Mutation_p.P450S|CAST_ENST00000395812.2_Missense_Mutation_p.P444S|CAST_ENST00000511049.1_Missense_Mutation_p.P388S|CAST_ENST00000309190.5_Missense_Mutation_p.P380S|CAST_ENST00000510756.1_Missense_Mutation_p.P463S|CAST_ENST00000508579.1_Missense_Mutation_p.P117S|CAST_ENST00000341926.3_Missense_Mutation_p.P402S|CAST_ENST00000511782.1_Missense_Mutation_p.P388S|CAST_ENST00000504465.1_Missense_Mutation_p.P330S|CAST_ENST00000359176.4_Missense_Mutation_p.P466S|CAST_ENST00000509903.1_Missense_Mutation_p.P367S|CAST_ENST00000508608.1_Missense_Mutation_p.P448S|CAST_ENST00000338252.3_Missense_Mutation_p.P389S|CAST_ENST00000508830.1_Missense_Mutation_p.P485S NM_001284213.1 NP_001271142.1 P20810 ICAL_HUMAN calpastatin 402 calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 22 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) TGCTCCAGCTCCTGTGTCGGA 0.488000 10 29 0 0 1 0 0 MAGEH1 28986 broad.mit.edu 37 X 55479335 55479335 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chrX:55479335C>T ENST00000342972.1 + 1 798 c.528C>T c.(526-528)gtC>gtT p.V176V NM_014061.3 NP_054780.2 Q9H213 MAGH1_HUMAN melanoma antigen family H, 1 176 MAGE. apoptosis central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2) 15 AACTGAAAGTCATGCATTTTG 0.512000 43 15 0 0 1 0 0 CDC27 996 broad.mit.edu 37 17 45229303 45229303 + Splice_Site SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:45229303C>G ENST00000531206.1 - 9 961 c.e9-1 CDC27_ENST00000527547.1_Intron|CDC27_ENST00000066544.3_Intron|CDC27_ENST00000446365.2_Intron P30260 CDC27_HUMAN cell division cycle 27 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 CACGAAAAGTCTAAGGTTTGT 0.413000 30 44 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6181225 6181225 + Nonsense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:6181225G>A ENST00000262450.3 - 33 4951 c.4852C>T c.(4852-4854)Cga>Tga p.R1618* CHD5_ENST00000378021.1_Nonsense_Mutation_p.R475* NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1618 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CGCTCCTCTCGGGCTCTCTCC 0.647000 7 16 0 0 1 0 0 DHRS9 10170 broad.mit.edu 37 2 169939910 169939910 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:169939910G>A ENST00000327239.4 + 6 1889 c.385G>A c.(385-387)Gac>Aac p.D129N DHRS9_ENST00000412271.1_Missense_Mutation_p.D129N|DHRS9_ENST00000602501.1_Missense_Mutation_p.D129N|DHRS9_ENST00000436483.2_Missense_Mutation_p.D129N|DHRS9_ENST00000432060.2_Missense_Mutation_p.D189N|DHRS9_ENST00000357546.2_Missense_Mutation_p.D129N|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000428522.1_Missense_Mutation_p.D129N NM_005771.4 NP_005762.2 Q9BPW9 DHRS9_HUMAN dehydrogenase/reductase (SDR family) member 9 129 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 GACACTAGAGGACTACAGAGA 0.468000 16 119 0 0 1 0 0 PADI4 23569 broad.mit.edu 37 1 17681136 17681136 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:17681136G>A ENST00000375448.4 + 11 1290 c.1264G>A c.(1264-1266)Gaa>Aaa p.E422K PADI4_ENST00000487048.1_3'UTR NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 422 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) CAGGGGCAAGGAATACCCGCT 0.572000 20 18 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186082010 186082010 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:186082010G>A ENST00000271588.4 + 72 11285 c.11056G>A c.(11056-11058)Gat>Aat p.D3686N HMCN1_ENST00000367492.2_Missense_Mutation_p.D3686N NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3686 Ig-like C2-type 35. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGACCTAGGTGATACAGCCAA 0.403000 21 74 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111603414 111603414 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:111603414C>G ENST00000431670.2 + 2 901 c.490C>G c.(490-492)Ctt>Gtt p.L164V PHLDB2_ENST00000393923.3_Missense_Mutation_p.L191V|PHLDB2_ENST00000478922.1_Missense_Mutation_p.L164V|PHLDB2_ENST00000393925.3_Missense_Mutation_p.L164V|PHLDB2_ENST00000477695.1_Missense_Mutation_p.L164V|PHLDB2_ENST00000412622.1_Missense_Mutation_p.L164V|PHLDB2_ENST00000481953.1_Missense_Mutation_p.L164V NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 164 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TGTCTACTCTCTTGGAGGGCT 0.542000 24 95 0 0 1 0 0 IGLV2-33 28811 broad.mit.edu 37 22 22930878 22930878 + RNA SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr22:22930878C>T ENST00000390302.2 + 0 131 TGCCCTGACTCAGCCTCCTTT 0.567000 44 169 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53639396 53639396 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:53639396C>T ENST00000262135.4 - 24 3685 c.3592G>A c.(3592-3594)Gat>Aat p.D1198N RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.D1244N|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.D1232N|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.D1278N NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 1278 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) CCCATACCATCGATATTTTGC 0.488000 4 74 0 0 1 0 0 HNRNPK 3190 broad.mit.edu 37 9 86586966 86586966 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:86586966C>G ENST00000376263.3 - 11 1007 c.784G>C c.(784-786)Gac>Cac p.D262H HNRNPK_ENST00000351839.3_Missense_Mutation_p.D262H|HNRNPK_ENST00000376264.2_Missense_Mutation_p.D262H|HNRNPK_ENST00000360384.5_Missense_Mutation_p.D262H|HNRNPK_ENST00000376281.4_Missense_Mutation_p.D262H NM_031263.2 NP_112553.1 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 262 2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Necessary for interaction with DDX1.|RNA-binding RGG-box. interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1) 19 GGCATTCTGTCAAAACCACCT 0.532000 14 68 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160050867 160050867 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:160050867G>C ENST00000263635.6 + 17 3079 c.2842G>C c.(2842-2844)Gag>Cag p.E948Q TANC1_ENST00000454300.1_Missense_Mutation_p.E842Q NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 948 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 CCTTGGCCACGAGGAAGTTGT 0.557000 6 75 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31323636 31323636 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr18:31323636C>T ENST00000269197.5 + 12 3824 c.3824C>T c.(3823-3825)tCt>tTt p.S1275F NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1275 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ACTACAATTTCTGCTTGTAAT 0.393000 5 77 0 0 1 0 0 KRT4 3851 broad.mit.edu 37 12 53207850 53207850 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr12:53207850G>C ENST00000293774.4 - 1 485 c.215C>G c.(214-216)tCt>tGt p.S72C KRT4_ENST00000551956.1_5'UTR B4DRS2 B4DRS2_HUMAN keratin 4 0 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 CATGGCTGCAGAGAGCGAGCT 0.627000 17 33 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216271124 216271124 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:216271124C>T ENST00000354785.4 - 19 3192 c.2823G>A c.(2821-2823)gtG>gtA p.V941V FN1_ENST00000443816.1_Silent_p.V941V|FN1_ENST00000446046.1_Silent_p.V941V|FN1_ENST00000356005.4_Silent_p.V941V|FN1_ENST00000346544.3_Silent_p.V941V|FN1_ENST00000432072.2_Silent_p.V941V|FN1_ENST00000359671.1_Silent_p.V941V|FN1_ENST00000345488.5_Silent_p.V941V|FN1_ENST00000357009.2_Silent_p.V941V|FN1_ENST00000357867.4_Silent_p.V941V|FN1_ENST00000336916.4_Silent_p.V941V|FN1_ENST00000421182.1_Silent_p.V941V|FN1_ENST00000323926.6_Silent_p.V941V P02751 FINC_HUMAN fibronectin 1 941 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) TGACGGGGATCACATCCACAC 0.602000 6 24 0 0 1 0 0 CEP120 153241 broad.mit.edu 37 5 122717855 122717855 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:122717855C>T ENST00000306467.5 - 14 2357 c.2053G>A c.(2053-2055)Gag>Aag p.E685K CEP120_ENST00000306481.6_Missense_Mutation_p.E659K|CEP120_ENST00000328236.5_Missense_Mutation_p.E685K Q8N960 CE120_HUMAN centrosomal protein 120kDa 685 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 TTCCATTCCTCTGCAAGAGCC 0.353000 5 65 0 0 1 0 0 C1orf87 127795 broad.mit.edu 37 1 60505607 60505607 + Missense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:60505607C>A ENST00000371201.3 - 5 836 c.729G>T c.(727-729)aaG>aaT p.K243N C1orf87_ENST00000450089.2_Intron NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 243 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GAGAACCCCTCTTAGAAAATC 0.408000 21 122 4.35082e-09 4.60934e-09 1 1 0 SYTL2 54843 broad.mit.edu 37 11 85445719 85445719 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:85445719G>A ENST00000316356.4 - 7 1217 c.653C>T c.(652-654)tCa>tTa p.S218L SYTL2_ENST00000527523.1_Missense_Mutation_p.S169L|SYTL2_ENST00000389960.4_Missense_Mutation_p.S217L|SYTL2_ENST00000524452.1_Missense_Mutation_p.S217L|SYTL2_ENST00000528231.1_Missense_Mutation_p.S217L Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 217 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) AGTCTGCTTTGATTTCTCTAA 0.368000 35 66 0 0 1 0 0 HIST1H2BE 8344 broad.mit.edu 37 6 26184092 26184092 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:26184092G>A ENST00000356530.3 + 1 135 c.69G>A c.(67-69)caG>caA p.Q23Q NM_003523.2 NP_003514.2 P62807 H2B1C_HUMAN histone cluster 1, H2be 23 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding endometrium(1)|large_intestine(2)|lung(1) 4 CCAAGGCGCAGAAGAAGGACG 0.577000 59 114 0 0 1 0 0 DMC1 11144 broad.mit.edu 37 22 38916075 38916075 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr22:38916075C>T ENST00000216024.2 - 14 1249 c.973G>A c.(973-975)Gaa>Aaa p.E325K DMC1_ENST00000428462.2_Missense_Mutation_p.E270K NM_007068.2 NP_008999.2 Q14565 DMC1_HUMAN DNA meiotic recombinase 1 325 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 Melanoma(58;0.0286) AAGGTGGCTTCATTTTCAGGC 0.393000 Homologous recombination 21 73 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 6 35 0 0 1 0 0 CYP3A5 1577 broad.mit.edu 37 7 99247765 99247765 + Silent SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:99247765G>C ENST00000343703.5 - 13 1700 c.1314C>G c.(1312-1314)ctC>ctG p.L438L CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Silent_p.L448L cytochrome P450, family 3, subfamily A, polypeptide 5 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) TCATGTTCATGAGAGCAAACC 0.398000 9 170 0 0 1 0 0 SAMD11 148398 broad.mit.edu 37 1 878746 878746 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:878746G>C ENST00000342066.3 + 12 1761 c.1678G>C c.(1678-1680)Gag>Cag p.E560Q NM_152486.2 NP_689699 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 560 SAM. nucleus breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) TGGCTGTGGAGAGTACACTCG 0.657000 11 37 0 0 1 0 0 FAM46A 55603 broad.mit.edu 37 6 82459924 82459924 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:82459924C>G ENST00000369754.3 - 3 1186 c.874G>C c.(874-876)Gat>Cat p.D292H FAM46A_ENST00000369756.3_Missense_Mutation_p.D354H|FAM46A_ENST00000320172.6_Missense_Mutation_p.D273H Q96IP4 FA46A_HUMAN family with sequence similarity 46, member A 273 endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104) BRCA - Breast invasive adenocarcinoma(397;0.0428) CAAAGGTGATCAAAGGCTTCC 0.493000 15 68 0 0 1 0 0 ZNF687 57592 broad.mit.edu 37 1 151262298 151262298 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:151262298G>A ENST00000368879.2 + 6 2877 c.2779G>A c.(2779-2781)Gaa>Aaa p.E927K NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 927 Poly-Glu. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TTCATCTTCAGAAGAGGAGGA 0.667000 3 5 0 0 1 0 0 MROH9 80133 broad.mit.edu 37 1 170959046 170959046 + Silent SNP T T C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:170959046T>C ENST00000367759.4 + 11 1084 c.930T>C c.(928-930)tgT>tgC p.C310C MROH9_ENST00000367758.3_Silent_p.C310C NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 ATAACAATTGTATGAAGGATG 0.423000 65 108 0 0 1 0 0 VSIG1 340547 broad.mit.edu 37 X 107319443 107319443 + Silent SNP A A G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chrX:107319443A>G ENST00000415430.3 + 7 1094 c.933A>G c.(931-933)gaA>gaG p.E311E VSIG1_ENST00000217957.5_Silent_p.E275E NM_001170553.1 NP_001164024.1 Q86XK7 VSIG1_HUMAN V-set and immunoglobulin domain containing 1 275 integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 CCATCGCGGAACTTGAGTAAG 0.403000 47 18 0 0 1 0 0 UTP14C 9724 broad.mit.edu 37 13 52605165 52605165 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr13:52605165C>T ENST00000521776.2 + 2 2958 c.2225C>T c.(2224-2226)tCa>tTa p.S742L NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 742 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) CAGTCTTCCTCAAGGTCAGAC 0.478000 15 143 0 0 1 0 0 SLC17A6 57084 broad.mit.edu 37 11 22360119 22360119 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:22360119G>A ENST00000263160.3 + 1 477 c.40G>A c.(40-42)Gag>Aag p.E14K NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 14 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity p.E14K(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 CCCAGGAAAAGAGGGGCTAAA 0.438000 14 24 0 0 1 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40265139 40265139 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:40265139G>C ENST00000263791.5 + 10 1627 c.1584G>C c.(1582-1584)tgG>tgC p.W528C EIF2AK4_ENST00000382727.2_Missense_Mutation_p.W528C|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.W528C NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 528 Protein kinase 1. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) AGGAAAGATGGAGTCCCCAGC 0.423000 5 86 0 0 1 0 0 BVES 11149 broad.mit.edu 37 6 105577271 105577271 + Silent SNP A A G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:105577271A>G ENST00000314641.5 - 3 550 c.334T>C c.(334-336)Tta>Cta p.L112L BVES_ENST00000446408.2_Silent_p.L112L|BVES_ENST00000336775.5_Silent_p.L112L NM_001199563.1 NP_001186492.1 Q8NE79 POPD1_HUMAN blood vessel epicardial substance 112 epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1) 21 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) TTCTTGTATAAAAGATACGAC 0.348000 21 45 0 0 1 0 0 WDR6 11180 broad.mit.edu 37 3 49051521 49051521 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:49051521C>G ENST00000395474.3 + 2 2924 c.2644C>G c.(2644-2646)Cgg>Ggg p.R882G WDR6_ENST00000448293.1_Missense_Mutation_p.R801G|WDR6_ENST00000608424.1_Missense_Mutation_p.R852G|WDR6_ENST00000415265.2_Missense_Mutation_p.R300G NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 852 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) CAATCGGCATCGGATGGTTAA 0.592000 OREG0015565 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 114 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8518022 8518022 + Missense_Mutation SNP T T C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:8518022T>C ENST00000381196.4 - 18 1912 c.1369A>G c.(1369-1371)Atg>Gtg p.M457V PTPRD_ENST00000397606.3_Missense_Mutation_p.M447V|PTPRD_ENST00000537002.1_Missense_Mutation_p.M454V|PTPRD_ENST00000355233.5_Missense_Mutation_p.M457V|PTPRD_ENST00000397617.3_Missense_Mutation_p.M447V|PTPRD_ENST00000397611.3_Missense_Mutation_p.M454V|PTPRD_ENST00000360074.4_Missense_Mutation_p.M444V|PTPRD_ENST00000358503.5_Missense_Mutation_p.M444V|PTPRD_ENST00000486161.1_Missense_Mutation_p.M457V|PTPRD_ENST00000540109.1_Missense_Mutation_p.M457V|PTPRD_ENST00000356435.5_Missense_Mutation_p.M457V NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 457 Fibronectin type-III 2. 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) GTGGGATCCATTGTATAATAA 0.423000 TSP Lung(15;0.13) 61 125 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66456633 66456633 + Nonsense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:66456633G>A ENST00000533211.1 - 30 6299 c.5968C>T c.(5968-5970)Cag>Tag p.Q1990* SPTBN2_ENST00000529997.1_Nonsense_Mutation_p.Q1990*|SPTBN2_ENST00000309996.2_Nonsense_Mutation_p.Q1990* O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1990 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 GCCTGCAGCTGAGACAGCTTC 0.632000 3 14 0 0 1 0 0 C14orf37 145407 broad.mit.edu 37 14 58604814 58604814 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:58604814G>A ENST00000267485.7 - 2 1457 c.1263C>T c.(1261-1263)ttC>ttT p.F421F C14orf37_ENST00000334342.5_5'UTR NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 421 integral to membrane binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 TGGATTCCGTGAAGTCTCCCG 0.438000 12 75 0 0 1 0 0 NPC1 4864 broad.mit.edu 37 18 21123451 21123451 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr18:21123451G>A ENST00000269228.5 - 14 2767 c.2213C>T c.(2212-2214)tCa>tTa p.S738L NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.S420L NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 738 SSD. autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) AGAAAAGGATGACAGGAACAT 0.453000 11 151 0 0 1 0 0 APOBEC4 403314 broad.mit.edu 37 1 183616842 183616842 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:183616842C>T ENST00000308641.4 - 2 1346 c.1075G>A c.(1075-1077)Gaa>Aaa p.E359K APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000304685.4_Intron|RGL1_ENST00000536277.1_Intron NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 359 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 TTCTTCTTTTCATCTGCCTCC 0.408000 21 162 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3148627 3148627 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:3148627C>G ENST00000355072.5 + 25 3392 c.3247C>G c.(3247-3249)Ctc>Gtc p.L1083V NM_002111.6 NP_002102 P42858 HD_HUMAN huntingtin 1083 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CCCATTGGATCTCTCAGCCCA 0.502000 15 406 0 0 1 0 0 VSTM1 284415 broad.mit.edu 37 19 54545425 54545425 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:54545425C>G ENST00000338372.2 - 6 688 c.513G>C c.(511-513)aaG>aaC p.K171N VSTM1_ENST00000376626.1_Missense_Mutation_p.K140N|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000366170.2_Missense_Mutation_p.K83N NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 171 integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) GCATCTACCTCTTGGTGGATT 0.507000 31 146 0 0 1 0 0 AGPAT9 84803 broad.mit.edu 37 4 84457852 84457852 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:84457852C>T ENST00000395226.2 + 2 295 c.77C>T c.(76-78)tCg>tTg p.S26L AGPAT9_ENST00000264409.4_Missense_Mutation_p.S26L NM_001256421.1 NP_001243350.1 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 26 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) CTTTTACCTTCGGTCTTCGGA 0.582000 5 24 0 0 1 0 0 GABRB3 2562 broad.mit.edu 37 15 26793038 26793038 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:26793038G>C ENST00000541819.2 - 10 1594 c.1492C>G c.(1492-1494)Cta>Gta p.L498V GABRB3_ENST00000299267.4_Missense_Mutation_p.L442V|GABRB3_ENST00000311550.5_Missense_Mutation_p.L442V|GABRB3_ENST00000545868.1_Missense_Mutation_p.L357V|GABRB3_ENST00000400188.3_Missense_Mutation_p.L371V P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 442 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ACATCGGTTAGATCAGGTATT 0.458000 33 38 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35331860 35331860 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:35331860G>A ENST00000373347.1 - 12 3032 c.2764C>T c.(2764-2766)Cgg>Tgg p.R922W DLGAP3_ENST00000235180.4_Missense_Mutation_p.R922W O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 922 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) CCCCGGCCCCGCAGGGGCTTC 0.716000 OREG0013353 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 11 0 0 1 0 0 C14orf37 145407 broad.mit.edu 37 14 58604778 58604778 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:58604778G>C ENST00000267485.7 - 2 1493 c.1299C>G c.(1297-1299)ttC>ttG p.F433L C14orf37_ENST00000334342.5_5'UTR NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 433 integral to membrane binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 TGGTTTCTAAGAAAAACAGGG 0.398000 13 93 0 0 1 0 0 MX2 4600 broad.mit.edu 37 21 42762521 42762521 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr21:42762521G>A ENST00000330714.3 + 6 946 c.762G>A c.(760-762)caG>caA p.Q254Q MX2_ENST00000543692.1_Intron NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 254 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) AGTACATCCAGAGGCAGCAGA 0.557000 38 111 0 0 1 0 0 RNF8 9025 broad.mit.edu 37 6 37336788 37336788 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:37336788C>T ENST00000373479.4 + 3 962 c.769C>T c.(769-771)Ctg>Ttg p.L257L RNF8_ENST00000469731.1_Silent_p.L257L|RNF8_ENST00000479516.1_3'UTR NM_003958.3|NM_183078.2 NP_003949.1|NP_898901.1 O76064 RNF8_HUMAN ring finger protein 8, E3 ubiquitin protein ligase 257 cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 13 GTCCAGGATTCTGAGGCTCAA 0.433000 20 90 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32398671 32398671 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chrX:32398671C>G ENST00000357033.4 - 34 5007 c.4801G>C c.(4801-4803)Gaa>Caa p.E1601Q DMD_ENST00000378677.2_Missense_Mutation_p.E1597Q NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1601 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) GGCATTCCTTCAACTGCTGAT 0.383000 6 125 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67477695 67477695 + Nonsense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr13:67477695G>A ENST00000544246.1 - 3 3770 c.3079C>T c.(3079-3081)Cag>Tag p.Q1027* PCDH9_ENST00000328454.5_Intron|PCDH9_ENST00000456367.1_Intron|PCDH9-AS2_ENST00000419371.2_RNA|PCDH9_ENST00000377865.2_Nonsense_Mutation_p.Q1027* NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 1027 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GGACATTTCTGAGGAGTGACA 0.388000 4 69 0 0 1 0 0 LRAT 9227 broad.mit.edu 37 4 155665889 155665889 + Silent SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:155665889C>G ENST00000336356.3 + 2 664 c.411C>G c.(409-411)ctC>ctG p.L137L LRAT_ENST00000507827.1_Silent_p.L137L NM_004744.3 NP_004735.2 O95237 LRAT_HUMAN lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) 137 response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum phosphatidylcholine-retinol O-acyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9) 16 all_hematologic(180;0.215) Renal(120;0.0458) Vitamin A(DB00162) AGGCACTGCTCAACGAGGAGG 0.577000 21 32 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24799114 24799114 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:24799114G>A ENST00000310677.4 - 9 1282 c.1169C>T c.(1168-1170)tCa>tTa p.S390L ADCY4_ENST00000418030.2_Missense_Mutation_p.S390L|ADCY4_ENST00000396747.3_Missense_Mutation_p.S83L|ADCY4_ENST00000554068.2_Missense_Mutation_p.S390L NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 390 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) GACATCATGTGACCAAACGTC 0.597000 20 112 0 0 1 0 0 ARMC6 93436 broad.mit.edu 37 19 19168416 19168416 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:19168416G>C ENST00000535612.1 + 9 1917 c.1485G>C c.(1483-1485)caG>caC p.Q495H ARMC6_ENST00000392336.3_Missense_Mutation_p.Q495H|ARMC6_ENST00000269932.6_Missense_Mutation_p.Q470H|ARMC6_ENST00000546344.1_Missense_Mutation_p.Q402H|ARMC6_ENST00000392335.2_Missense_Mutation_p.Q470H NM_001199196.1 NP_001186125.1 Q6NXE6 ARMC6_HUMAN armadillo repeat containing 6 495 protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1) 14 OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391) GGACAGGCCAGAGGGGCAACC 0.652000 5 29 0 0 1 0 0 DUSP12 11266 broad.mit.edu 37 1 161726695 161726695 + Missense_Mutation SNP G G T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:161726695G>T ENST00000367943.4 + 6 1013 c.981G>T c.(979-981)atG>atT p.M327I NM_007240.1 NP_009171.1 Q9UNI6 DUS12_HUMAN dual specificity phosphatase 12 327 positive regulation of glucokinase activity cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|lung(1) 5 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) TGGATGAAATGAAAATATTGC 0.388000 16 81 4.14922e-12 4.47357e-12 1 1 0 C2CD3 26005 broad.mit.edu 37 11 73825601 73825601 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:73825601C>T ENST00000334126.7 - 10 1784 c.1558G>A c.(1558-1560)Gaa>Aaa p.E520K C2CD3_ENST00000313663.7_Missense_Mutation_p.E520K Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 520 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) TGGGCATCTTCTGGAGTTTCT 0.443000 19 83 0 0 1 0 0 TASP1 55617 broad.mit.edu 37 20 13514765 13514765 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr20:13514765G>A ENST00000337743.4 - 9 819 c.699C>T c.(697-699)gaC>gaT p.D233D TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Intron NM_017714.2 NP_060184.2 Q9H6P5 TASP1_HUMAN taspase, threonine aspartase, 1 233 asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation threonine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2) 31 CGCCTACCGTGTCCAAAGTGC 0.512000 35 109 0 0 1 0 0 IL17RE 132014 broad.mit.edu 37 3 9945786 9945786 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:9945786C>T ENST00000454190.2 + 3 304 c.219C>T c.(217-219)gtC>gtT p.V73V IL17RE_ENST00000295980.3_Silent_p.V73V|IL17RE_ENST00000421412.1_Silent_p.V106V|IL17RE_ENST00000383814.3_Silent_p.V73V NM_001193380.1 NP_001180309.1 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E 73 cytoplasm|extracellular region|integral to membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) GTGTGCGAGTCTGGCACTGTT 0.532000 54 117 0 0 1 0 0 ICMT 23463 broad.mit.edu 37 1 6291999 6291999 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:6291999G>A ENST00000343813.5 - 4 663 c.635C>T c.(634-636)tCt>tTt p.S212F NM_012405.3 NP_036537.1 O60725 ICMT_HUMAN isoprenylcysteine carboxyl methyltransferase 212 protein targeting to membrane endoplasmic reticulum membrane|integral to membrane|membrane fraction protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity NS(1)|endometrium(2) 3 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) CCCGACGTAAGAAGGATGCCG 0.373000 22 47 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48313605 48313605 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:48313605C>G ENST00000435803.1 + 17 4366 c.4342C>G c.(4342-4344)Ctt>Gtt p.L1448V NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1448 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AAAAAAACCTCTTTGTTCATC 0.264000 10 55 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1926917 1926917 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:1926917G>A ENST00000399161.2 - 10 1371 c.624C>T c.(622-624)ctC>ctT p.L208L MYT1L_ENST00000428368.2_Silent_p.L208L NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 208 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CGATTTTGCCGAGGTTTAACA 0.423000 19 50 0 0 1 0 0 SFXN4 119559 broad.mit.edu 37 10 120923669 120923669 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:120923669C>G ENST00000355697.2 - 2 170 c.151G>C c.(151-153)Gat>Cat p.D51H SFXN4_ENST00000330036.6_Missense_Mutation_p.D51H|SFXN4_ENST00000461438.1_5'UTR NM_213649.1 NP_998814.1 Q6P4A7 SFXN4_HUMAN sideroflexin 4 51 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 11 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0261) TTTGTAGGATCTAATAATTCT 0.318000 49 30 0 0 1 0 0 CSNK2A3 283106 broad.mit.edu 37 11 11374269 11374269 + Missense_Mutation SNP A A G rs2071460 by1000genomes TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:11374269A>G ENST00000528848.2 - 1 635 c.398T>C c.(397-399)aTt>aCt p.I133T GALNT18_ENST00000227756.4_Intron|RP11-567I13.1_ENST00000526867.1_RNA NM_001256686.1 NP_001243615.1 casein kinase 2, alpha 3 polypeptide GTAAAATCGAATATCATAGTC 0.408000 5 89 0 0 1 0 0 IL2RA 3559 broad.mit.edu 37 10 6104059 6104059 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:6104059C>T ENST00000379959.3 - 1 229 c.56G>A c.(55-57)tGc>tAc p.C19Y IL2RA_ENST00000379954.1_Missense_Mutation_p.C19Y|IL2RA_ENST00000256876.6_Missense_Mutation_p.C19Y NM_000417.2 NP_000408.1 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha 19 cell proliferation integral to membrane interleukin-2 receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) ACCTGCCTGGCAGCCAGGCAC 0.612000 9 87 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25321117 25321117 + RNA SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:25321117G>A ENST00000549804.2 + 0 1109 SNORD116-11_ENST00000383882.1_RNA TTGGAAAGTTGAACAAAATGA 0.433000 12 113 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56405156 56405156 + Silent SNP G G A rs148586326 TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:56405156G>A ENST00000355701.3 - 1 996 c.126C>T c.(124-126)atC>atT p.I42I BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1_ENST00000343736.4_Silent_p.I42I|BZRAP1_ENST00000268893.6_Silent_p.I42I NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 42 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GAGTATCAGCGATGCTTGGGG 0.637000 4 31 0 0 1 0 0 WWP2 11060 broad.mit.edu 37 16 69964146 69964146 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:69964146C>T ENST00000359154.2 + 13 1531 c.1430C>T c.(1429-1431)cCg>cTg p.P477L WWP2_ENST00000568684.1_Missense_Mutation_p.P38L|WWP2_ENST00000542271.1_Missense_Mutation_p.P361L|WWP2_ENST00000356003.2_Missense_Mutation_p.P477L|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Missense_Mutation_p.P477L NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 477 WW 4. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GATCCTCGCCCGGGGTTTGAG 0.597000 OREG0023910 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 10 0 0 1 0 0 ATP2A2 488 broad.mit.edu 37 12 110778732 110778732 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr12:110778732G>C ENST00000395494.2 + 13 2512 c.1949G>C c.(1948-1950)cGa>cCa p.R650P ATP2A2_ENST00000308664.6_Missense_Mutation_p.R677P|ATP2A2_ENST00000539276.2_Missense_Mutation_p.R677P P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 677 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 TGTTTTGCTCGAGTTGAACCC 0.498000 9 24 0 0 1 0 0 OSBPL7 114881 broad.mit.edu 37 17 45897592 45897592 + Nonsense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:45897592G>C ENST00000007414.3 - 2 244 c.53C>G c.(52-54)tCa>tGa p.S18* OSBPL7_ENST00000392507.3_Nonsense_Mutation_p.S18* NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 18 lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 GCTGGGCTTTGAGGACTGAGC 0.637000 4 24 0 0 1 0 0 CBX2 84733 broad.mit.edu 37 17 77755666 77755666 + Missense_Mutation SNP G G T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:77755666G>T ENST00000269399.5 + 4 396 c.354G>T c.(352-354)caG>caT p.Q118H CBX2_ENST00000310942.4_Intron NM_032647.3 NP_116036.1 Q14781 CBX2_HUMAN chromobox homolog 2 0 Ser-rich. cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGGGCAGGCAGAGGGAGGGTT 0.642000 6 51 3.59834e-05 3.71523e-05 1 1 0 TAF1B 9014 broad.mit.edu 37 2 10045054 10045054 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:10045054C>T ENST00000263663.5 + 9 1062 c.874C>T c.(874-876)Cgt>Tgt p.R292C TAF1B_ENST00000396242.3_Missense_Mutation_p.R37C NM_005680.2 NP_005671 Q53T94 TAF1B_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa 292 R -> H (in dbSNP:rs16867223). termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AGATTTGCCTCGTTTTCCAGA 0.378000 8 136 0 0 1 0 0 HIST2H2AB 317772 broad.mit.edu 37 1 149859417 149859417 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:149859417G>C ENST00000331128.3 - 1 49 c.50C>G c.(49-51)tCg>tGg p.S17W NM_175065.2 NP_778235.1 Q8IUE6 H2A2B_HUMAN histone cluster 2, H2ab 17 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GGACGAGCGCGACTTGGCCTT 0.622000 20 102 0 0 1 0 0 INSC 387755 broad.mit.edu 37 11 15199878 15199878 + Missense_Mutation SNP A A C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:15199878A>C ENST00000379554.3 + 5 651 c.605A>C c.(604-606)cAg>cCg p.Q202P INSC_ENST00000528567.1_Missense_Mutation_p.Q155P|INSC_ENST00000424273.1_Missense_Mutation_p.Q155P|INSC_ENST00000530161.1_Missense_Mutation_p.Q155P|INSC_ENST00000525218.1_Missense_Mutation_p.Q155P|INSC_ENST00000379556.3_Missense_Mutation_p.Q155P NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 202 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 AGGTGCCTTCAGGTTGAGAAT 0.572000 31 15 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66386048 66386048 + Silent SNP A A G rs66995460 TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:66386048A>G ENST00000404260.3 + 6 1130 c.822A>G c.(820-822)tcA>tcG p.S274S MAST4_ENST00000403666.1_Silent_p.S85S|MAST4_ENST00000490016.2_Silent_p.S85S|MAST4_ENST00000261569.7_Silent_p.S80S|MAST4_ENST00000403625.2_Silent_p.S274S|MAST4_ENST00000405643.1_Silent_p.S92S O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 274 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CCCATTTTTCATTTGCACGGA 0.443000 9 7 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518227 113518227 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:113518227C>T ENST00000284601.3 - 4 2988 c.2920G>A c.(2920-2922)Gaa>Aaa p.E974K NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 974 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 GAAACTTCTTCAGGTTTAGAC 0.378000 45 76 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5969048 5969048 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:5969048C>T ENST00000399933.3 - 3 1182 c.1183G>A c.(1183-1185)Gaa>Aaa p.E395K KIAA2026_ENST00000381461.2_Missense_Mutation_p.E395K NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 395 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) CCCAGTTTTTCAGCACAGTTA 0.418000 5 19 0 0 1 0 0 NAPSA 9476 broad.mit.edu 37 19 50864260 50864260 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:50864260C>T ENST00000253719.2 - 5 814 c.606G>A c.(604-606)ccG>ccA p.P202P NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 202 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) GTACATCCATCGGGGGCCGAA 0.532000 38 77 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139917811 139917811 + Nonsense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:139917811C>T ENST00000297183.6 + 32 7493 c.7369C>T c.(7369-7371)Cag>Tag p.Q2457* ANKHD1_ENST00000360839.2_Nonsense_Mutation_p.Q2457*|ANKHD1_ENST00000544120.1_Nonsense_Mutation_p.Q781*|ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.Q2457* NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATTTTTCATCAGCCTATGGC 0.408000 39 120 0 0 1 0 0 ZPBP2 124626 broad.mit.edu 37 17 38027764 38027764 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:38027764G>C ENST00000377940.3 + 3 365 c.226G>C c.(226-228)Gat>Cat p.D76H ZPBP2_ENST00000584588.1_Missense_Mutation_p.D98H|ZPBP2_ENST00000348931.4_Missense_Mutation_p.D98H NM_198844.2 NP_942141.2 Q6X784 ZPBP2_HUMAN zona pellucida binding protein 2 98 binding of sperm to zona pellucida extracellular region kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Colorectal(19;0.000442) Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171) GATGGTGAAAGATTTTTTGGA 0.284000 17 131 0 0 1 0 0 HCCS 3052 broad.mit.edu 37 X 11133074 11133074 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chrX:11133074G>C ENST00000321143.4 + 3 422 c.220G>C c.(220-222)Gag>Cag p.E74Q HCCS_ENST00000380762.4_Missense_Mutation_p.E74Q|HCCS_ENST00000380763.3_Missense_Mutation_p.E74Q NM_001122608.2|NM_001171991.2|NM_005333.4 NP_001116080.1|NP_001165462.1|NP_005324.3 P53701 CCHL_HUMAN holocytochrome c synthase 74 organ morphogenesis|oxidation-reduction process mitochondrial inner membrane holocytochrome-c synthase activity|metal ion binding kidney(1)|large_intestine(3)|lung(3) 7 CACTGCGGCTGAGAATAAGGA 0.493000 4 72 0 0 1 0 0 PLK3 1263 broad.mit.edu 37 1 45271270 45271270 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:45271270C>T ENST00000372201.4 + 15 2100 c.1861C>T c.(1861-1863)Cgg>Tgg p.R621W PLK3_ENST00000465443.1_3'UTR NM_004073.2 NP_004064.2 Q9H4B4 PLK3_HUMAN polo-like kinase 3 621 POLO box 2. membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) TTCCCACCTTCGGCAGCTGGG 0.637000 8 181 0 0 1 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50471824 50471824 + Nonsense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:50471824C>A ENST00000435965.1 - 3 498 c.325G>T c.(325-327)Gag>Tag p.E109* CACNA2D2_ENST00000266039.3_Nonsense_Mutation_p.E109*|CACNA2D2_ENST00000479441.1_Nonsense_Mutation_p.E109*|CACNA2D2_ENST00000429770.1_Nonsense_Mutation_p.E109*|CACNA2D2_ENST00000487413.1_5'UTR|CACNA2D2_ENST00000360963.3_Nonsense_Mutation_p.E40*|CACNA2D2_ENST00000424201.2_Nonsense_Mutation_p.E109*|CACNA2D2_ENST00000395083.1_Nonsense_Mutation_p.E109*|CACNA2D2_ENST00000423994.2_Nonsense_Mutation_p.E109* Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 109 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) GGCTCATTCTCCTGTACCTCG 0.572000 5 112 0.014758 0.0149213 1 1 0 PTPRK 5796 broad.mit.edu 37 6 128411102 128411102 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:128411102C>T ENST00000368227.3 - 8 1564 c.1198G>A c.(1198-1200)Gaa>Aaa p.E400K PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Missense_Mutation_p.E400K|PTPRK_ENST00000368207.3_Missense_Mutation_p.E400K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E400K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E400K|PTPRK_ENST00000368213.5_Missense_Mutation_p.E400K|PTPRK_ENST00000368215.3_Missense_Mutation_p.E400K Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 400 Fibronectin type-III 2. 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) GCCTGTATTTCAGCAATCTTT 0.383000 37 94 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74284010 74284010 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:74284010G>A ENST00000295897.4 + 12 1723 c.1634G>A c.(1633-1635)aGa>aAa p.R545K ALB_ENST00000503124.1_Missense_Mutation_p.R395K|ALB_ENST00000415165.2_Missense_Mutation_p.R353K|ALB_ENST00000401494.3_Missense_Mutation_p.R430K|ALB_ENST00000509063.1_Missense_Mutation_p.R545K|ALB_ENST00000505649.1_3'UTR NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 545 Albumin 3. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) GAGAAGGAGAGACAAATCAAG 0.383000 20 39 0 0 1 0 0 GATA5 140628 broad.mit.edu 37 20 61040029 61040029 + Missense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr20:61040029C>A ENST00000252997.2 - 7 1118 c.1057G>T c.(1057-1059)Gac>Tac p.D353Y NM_080473.4 NP_536721.1 Q9BWX5 GATA5_HUMAN GATA binding protein 5 353 blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter nucleoplasm sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding kidney(1)|lung(3)|ovary(1)|stomach(1) 6 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;3.08e-06) GCAAGAGAGTCATCCTCCTGG 0.672000 14 24 6.72482e-11 7.18691e-11 1 1 0 SSH3 54961 broad.mit.edu 37 11 67075889 67075889 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:67075889G>C ENST00000308127.4 + 10 1199 c.1021G>C c.(1021-1023)Gag>Cag p.E341Q SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_Missense_Mutation_p.E341Q NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 341 Tyrosine-protein phosphatase. regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CCAGGGCTCAGAGTGGAACGC 0.657000 7 23 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153135920 153135920 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chrX:153135920G>A ENST00000370060.1 - 8 918 c.729C>T c.(727-729)ctC>ctT p.L243L L1CAM_ENST00000538883.1_Silent_p.L245L|L1CAM_ENST00000361699.4_Silent_p.L243L|L1CAM_ENST00000370057.3_Silent_p.L243L|L1CAM_ENST00000543994.1_Silent_p.L245L|L1CAM_ENST00000361981.3_Silent_p.L238L|L1CAM_ENST00000370055.1_Silent_p.L238L NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 243 Ig-like C2-type 3. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGGTGGGGAAGAGCAGGCGCG 0.632000 4 20 0 0 1 0 0 ZCWPW2 152098 broad.mit.edu 37 3 28454785 28454785 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:28454785G>A ENST00000383768.2 + 3 414 c.226G>A c.(226-228)Gaa>Aaa p.E76K ZCWPW2_ENST00000421010.1_Missense_Mutation_p.E76K Q504Y3 ZCPW2_HUMAN zinc finger, CW type with PWWP domain 2 76 zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2) 17 AATTTCTGAAGAAGACTTCCC 0.388000 8 143 0 0 1 0 0 CHMP2A 27243 broad.mit.edu 37 19 59063424 59063424 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:59063424C>T ENST00000600118.1 - 3 902 c.477G>A c.(475-477)gaG>gaA p.E159E CHMP2A_ENST00000312547.2_Silent_p.E159E|CHMP2A_ENST00000601220.1_Silent_p.E159E O43633 CHM2A_HUMAN charged multivesicular body protein 2A 159 Interaction with VPS4B. cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein domain specific binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 7 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) CCCCATACCTCTCCTCTTCAT 0.517000 11 193 0 0 1 0 0 SLC7A9 11136 broad.mit.edu 37 19 33334854 33334854 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:33334854G>A ENST00000023064.4 - 10 1172 c.981C>T c.(979-981)ctC>ctT p.L327L SLC7A9_ENST00000590341.1_Silent_p.L327L|SLC7A9_ENST00000587772.1_Silent_p.L327L 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 9 327 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 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) CCACGTAAATGAGTCTGGAAA 0.577000 5 37 0 0 1 0 0 TRIM27 5987 broad.mit.edu 37 6 28872256 28872256 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:28872256C>T ENST00000377199.3 - 8 1489 c.1133G>A c.(1132-1134)gGa>gAa p.G378E TRIM27_ENST00000377194.3_Intron NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 378 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 GGCTTTATCTCCCACCTCTAC 0.532000 T RET papillary thyroid 16 75 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8484129 8484129 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:8484129C>T ENST00000381196.4 - 27 3946 c.3403G>A c.(3403-3405)Gag>Aag p.E1135K PTPRD_ENST00000397606.3_Missense_Mutation_p.E714K|PTPRD_ENST00000537002.1_Missense_Mutation_p.E721K|PTPRD_ENST00000355233.5_Missense_Mutation_p.E724K|PTPRD_ENST00000397617.3_Missense_Mutation_p.E714K|PTPRD_ENST00000397611.3_Missense_Mutation_p.E721K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E1122K|PTPRD_ENST00000358503.5_Missense_Mutation_p.E1113K|PTPRD_ENST00000486161.1_Missense_Mutation_p.E724K|PTPRD_ENST00000540109.1_Missense_Mutation_p.E1135K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E1135K NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1135 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) TTTATATTCTCATTTGCAGGT 0.383000 TSP Lung(15;0.13) 6 102 0 0 1 0 0 GABRP 2568 broad.mit.edu 37 5 170239053 170239053 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:170239053G>A ENST00000518525.1 + 11 1578 c.1114G>A c.(1114-1116)Gaa>Aaa p.E372K GABRP_ENST00000519385.1_3'UTR|GABRP_ENST00000265294.4_Missense_Mutation_p.E372K O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 372 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGCCAGCATTGAAATTTCCAG 0.413000 20 72 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179641476 179641476 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:179641476G>C ENST00000589042.1 - 28 5339 c.5115C>G c.(5113-5115)ttC>ttG p.F1705L TTN_ENST00000342992.6_Missense_Mutation_p.F1705L|TTN_ENST00000342175.6_Missense_Mutation_p.F1659L|TTN_ENST00000591111.1_Missense_Mutation_p.F1705L|TTN_ENST00000359218.5_Missense_Mutation_p.F1659L|TTN_ENST00000460472.2_Missense_Mutation_p.F1659L|TTN_ENST00000360870.5_Missense_Mutation_p.F1705L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1459 Ig-like 8. 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) GTTTTTTCTTGAAAAATGGTT 0.483000 8 57 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42906092 42906092 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:42906092C>G ENST00000244289.4 - 10 3379 c.3103G>C c.(3103-3105)Gag>Cag p.E1035Q LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 1035 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) TGGCGCGTCTCGCGGCACAGC 0.756000 2 3 0 0 1 0 0 MAVS 57506 broad.mit.edu 37 20 3842053 3842053 + Translation_Start_Site SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr20:3842053G>A ENST00000416600.2 + 0 323 MAVS_ENST00000428216.2_Missense_Mutation_p.A123T|MAVS_ENST00000358134.6_Intron NM_001206491.1 NP_001193420.1 Q7Z434 MAVS_HUMAN mitochondrial antiviral signaling protein activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 CCCCACACCTGCTGCGGCCCA 0.627000 12 100 0 0 1 0 0 EFCAB11 90141 broad.mit.edu 37 14 90416473 90416473 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:90416473G>A ENST00000316738.7 - 3 213 c.185C>T c.(184-186)tCt>tTt p.S62F EFCAB11_ENST00000267544.9_5'UTR|EFCAB11_ENST00000555872.1_Missense_Mutation_p.S38F|RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000556005.1_Missense_Mutation_p.S38F|EFCAB11_ENST00000538485.2_Missense_Mutation_p.S62F|EFCAB11_ENST00000556609.1_Missense_Mutation_p.S14F NM_001284267.1|NM_145231.3 NP_001271196.1|NP_660274.1 Q9BUY7 EFC11_HUMAN EF-hand calcium binding domain 11 62 calcium ion binding large_intestine(1)|lung(1) 2 AGACATCACAGAATCCACTTC 0.318000 6 14 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885613 88885613 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr8:88885613G>A ENST00000319675.3 - 1 683 c.587C>T c.(586-588)gCg>gTg p.A196V NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 196 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 AGAGTGATACGCGTGGATGCT 0.557000 42 77 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100395059 100395059 + RNA SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:100395059G>C ENST00000542585.1 + 0 8548 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CGTGACCAGAGAGTGCATTTA 0.602000 24 39 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183267846 183267846 + Missense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:183267846C>A ENST00000511685.1 + 3 398 c.275C>A c.(274-276)gCa>gAa p.A92E TENM3_ENST00000406950.2_Missense_Mutation_p.A92E teneurin transmembrane protein 3 TGTGAACCAGCAACTCGAAGA 0.428000 17 17 5.03518e-11 5.39695e-11 1 1 0 PAPPA2 60676 broad.mit.edu 37 1 176681100 176681100 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:176681100G>A ENST00000367662.3 + 12 4945 c.3781G>A c.(3781-3783)Gat>Aat p.D1261N NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1261 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding 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 GAAGAAAGAGGATGAGGTTTG 0.468000 6 78 0 0 1 0 0 SERPINF1 5176 broad.mit.edu 37 17 1678376 1678376 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:1678376C>T ENST00000254722.4 + 6 831 c.668C>T c.(667-669)tCc>tTc p.S223F NM_002615.5 NP_002606.3 P36955 PEDF_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 223 cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis extracellular space|melanosome serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 16 AAGTTTGACTCCAGAAAGACT 0.522000 4 79 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35614676 35614676 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:35614676G>C ENST00000353139.5 - 14 2256 c.1775C>G c.(1774-1776)tCt>tGt p.S592C ACACA_ENST00000360679.3_Missense_Mutation_p.S497C|ACACA_ENST00000335166.5_Missense_Mutation_p.S477C|ACACA_ENST00000394406.2_Missense_Mutation_p.S555C NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 555 Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) ACCAAACTGAGAATCAGCAAA 0.393000 11 63 0 0 1 0 0 AKAP8L 26993 broad.mit.edu 37 19 15508649 15508649 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:15508649G>A ENST00000397410.5 - 10 1305 c.1175C>T c.(1174-1176)tCt>tTt p.S392F AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Missense_Mutation_p.S331F NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 TTTGCACAGAGAACACACAAA 0.547000 14 12 0 0 1 0 0 ERF 2077 broad.mit.edu 37 19 42753761 42753761 + Missense_Mutation SNP G G T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:42753761G>T ENST00000222329.4 - 4 660 c.503C>A c.(502-504)tCt>tAt p.S168Y AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.S93Y NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 168 Poly-Ser. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GGAAGATGAAGATGAAGAGCA 0.657000 4 66 0.00909568 0.00922183 1 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43825236 43825236 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr12:43825236G>A ENST00000389420.3 - 22 3159 c.3160C>T c.(3160-3162)Cac>Tac p.H1054Y ADAMTS20_ENST00000395541.2_Missense_Mutation_p.H208Y|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.H1054Y NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1054 TSP type-1 5. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TCACTCAAGTGATCTACATTC 0.428000 63 40 0 0 1 0 0 CCHCR1 54535 broad.mit.edu 37 6 31116208 31116208 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:31116208C>T ENST00000396268.3 - 10 1742 c.1554G>A c.(1552-1554)ctG>ctA p.L518L CCHCR1_ENST00000376266.5_Silent_p.L429L|CCHCR1_ENST00000396263.2_Silent_p.L429L|CCHCR1_ENST00000451521.2_Silent_p.L482L NM_001105563.1|NM_001105564.1 NP_001099033.1|NP_001099034.1 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 429 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23 CCACAAGCCTCAGCTGCTCCT 0.617000 7 140 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 158282442 158282442 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:158282442C>T ENST00000389413.3 - 2 251 c.148G>A c.(148-150)Gag>Aag p.E50K PTPRN2_ENST00000389416.4_Intron|PTPRN2_ENST00000409483.1_Missense_Mutation_p.E50K|PTPRN2_ENST00000404321.2_Missense_Mutation_p.E73K|PTPRN2_ENST00000389418.4_Missense_Mutation_p.E50K NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 50 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) ACACAGGCCTCGGACGCTCCG 0.731000 4 5 0 0 1 0 0 AP1G1 164 broad.mit.edu 37 16 71799484 71799484 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:71799484C>G ENST00000299980.4 - 7 1087 c.646G>C c.(646-648)Gtg>Ctg p.V216L AP1G1_ENST00000393512.3_Missense_Mutation_p.V219L|AP1G1_ENST00000433195.2_Missense_Mutation_p.V239L|AP1G1_ENST00000423132.2_Missense_Mutation_p.V219L|AP1G1_ENST00000569748.1_Missense_Mutation_p.V216L NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit 216 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) AATTGGGGCACAAGCTGCAGA 0.408000 12 32 0 0 1 0 0 HNRNPK 3190 broad.mit.edu 37 9 86586835 86586835 + Silent SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:86586835C>A ENST00000376263.3 - 11 1138 c.915G>T c.(913-915)cgG>cgT p.R305R HNRNPK_ENST00000351839.3_Silent_p.R305R|HNRNPK_ENST00000376264.2_Silent_p.R305R|HNRNPK_ENST00000360384.5_Silent_p.R305R|HNRNPK_ENST00000376281.4_Silent_p.R305R NM_031263.2 NP_112553.1 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 305 2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity). interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1) 19 GAGGAAGATTCCGAGCTCTGC 0.517000 13 100 3.27435e-08 3.4539e-08 1 1 0 WDR75 84128 broad.mit.edu 37 2 190338996 190338996 + Missense_Mutation SNP G G A rs116046757 byFrequency TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:190338996G>A ENST00000314761.4 + 19 2194 c.2134G>A c.(2134-2136)Gaa>Aaa p.E712K NM_032168.1 NP_115544.1 Q8IWA0 WDR75_HUMAN WD repeat domain 75 712 nucleolus breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) AAAACTAAACGAAACTTTAGA 0.363000 10 133 0 0 1 0 0 CPD 1362 broad.mit.edu 37 17 28749808 28749808 + Nonsense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:28749808C>G ENST00000225719.4 + 5 1500 c.1424C>G c.(1423-1425)tCa>tGa p.S475* CPD_ENST00000543464.2_Nonsense_Mutation_p.S228* NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 475 Carboxypeptidase-like 1. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 GAGGCTGTATCAACTGCTAGC 0.448000 7 117 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235892949 235892949 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:235892949C>T ENST00000389794.3 - 37 9227 c.9053G>A c.(9052-9054)cGa>cAa p.R3018Q LYST_ENST00000389793.2_Missense_Mutation_p.R3018Q|LYST_ENST00000473037.1_5'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 3018 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding p.R3018Q(1) NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GATGCATCTTCGATTCACTCT 0.338000 4 61 0 0 1 0 0 TMEM104 54868 broad.mit.edu 37 17 72832682 72832682 + Silent SNP C C T rs147463051 byFrequency TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:72832682C>T ENST00000335464.5 + 10 1509 c.1347C>T c.(1345-1347)acC>acT p.T449T TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Silent_p.T449T NM_017728.3 NP_060198.3 Q8NE00 TM104_HUMAN transmembrane protein 104 449 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) GCAGGGACACCCAGCTGGCCT 0.642000 4 48 0 0 1 0 0 ACBD7 414149 broad.mit.edu 37 10 15120588 15120588 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:15120588C>G ENST00000356189.5 - 4 255 c.208G>C c.(208-210)Gat>Cat p.D70H ACBD7_ENST00000496890.1_5'UTR NM_001039844.2 NP_001034933.1 Q8N6N7 ACBD7_HUMAN acyl-CoA binding domain containing 7 70 ACB. fatty-acyl-CoA binding endometrium(1)|lung(4)|prostate(1) 6 CTCGTCGCATCTTCCGTCGAC 0.363000 6 113 0 0 1 0 0 CEP164 22897 broad.mit.edu 37 11 117253519 117253519 + Missense_Mutation SNP G G T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:117253519G>T ENST00000278935.3 + 14 1732 c.1585G>T c.(1585-1587)Gcc>Tcc p.A529S CEP164_ENST00000533706.1_3'UTR NM_001271933.1|NM_014956.4 NP_001258862.1|NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 529 Glu-rich. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 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;4e-05)|Epithelial(105;0.0008) AAGGGAGCAGGCCCCAAGCCC 0.547000 5 114 0.217242 0.217838 1 1 0 IFIT2 3433 broad.mit.edu 37 10 91066692 91066692 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:91066692G>A ENST00000371826.3 + 2 1148 c.979G>A c.(979-981)Gat>Aat p.D327N LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron NM_001547.4 NP_001538.4 P09913 IFIT2_HUMAN interferon-induced protein with tetratricopeptide repeats 2 327 negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway protein binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 12 Colorectal(252;0.0161) GAAGAAAGCTGATGAGGCCAA 0.418000 6 58 0 0 1 0 0 SHB 6461 broad.mit.edu 37 9 37948664 37948664 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:37948664C>T ENST00000377707.3 - 5 1879 c.1314G>A c.(1312-1314)caG>caA p.Q438Q RP11-613M10.9_ENST00000540557.1_3'UTR NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 438 SH2. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) GCTTGCTGGTCTGGCTGTTCC 0.647000 7 68 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43430591 43430591 + RNA SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:43430591G>A ENST00000406070.2 - 0 1083 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) GATACTCACAGAGGACATTCA 0.517000 7 187 0 0 1 0 0 RPAP2 79871 broad.mit.edu 37 1 92799022 92799022 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:92799022G>C ENST00000610020.1 + 9 1639 c.1530G>C c.(1528-1530)ttG>ttC p.L510F NM_024813.2 NP_079089.2 Q8IXW5 RPAP2_HUMAN RNA polymerase II associated protein 2 integral to membrane|nucleus metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 22 all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222) all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115) TTGAAAAGTTGAGTAAAGTGT 0.333000 5 70 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39537620 39537620 + Nonsense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr8:39537620C>T ENST00000265707.5 + 16 1741 c.1696C>T c.(1696-1698)Caa>Taa p.Q566* ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Nonsense_Mutation_p.Q542* NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 566 Cys-rich. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding p.Q566*(1) NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) AAGTGACGCTCAATCTACAGT 0.383000 7 91 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1367574 1367574 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:1367574C>G ENST00000446702.2 + 9 1649 c.1022C>G c.(1021-1023)gCt>gGt p.A341G CNTN6_ENST00000539053.1_Missense_Mutation_p.A269G|CNTN6_ENST00000350110.2_Missense_Mutation_p.A341G Q9UQ52 CNTN6_HUMAN contactin 6 341 Ig-like C2-type 4. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GAATGTAAAGCTAGTGGAAAG 0.398000 19 78 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766229 77766229 + Nonsense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr8:77766229C>T ENST00000521891.2 + 10 7520 c.7072C>T c.(7072-7074)Caa>Taa p.Q2358* ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.Q2313*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.Q2332*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.Q2313* NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2313 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGCCACTGATCAAGTGGTATA 0.493000 HNSCC(33;0.089) 29 136 0 0 1 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65198192 65198192 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:65198192C>T ENST00000247226.7 + 6 1103 c.795C>T c.(793-795)ttC>ttT p.F265F PLEKHG3_ENST00000394691.1_Silent_p.F321F NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 321 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) GGACCTTTTTCCTCTTTGACA 0.567000 26 55 0 0 1 0 0 TTC18 118491 broad.mit.edu 37 10 75058822 75058822 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:75058822G>C ENST00000401621.2 - 15 1685 c.1565C>G c.(1564-1566)tCt>tGt p.S522C TTC18_ENST00000394865.1_Missense_Mutation_p.S522C|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000310715.3_Missense_Mutation_p.S522C|TTC18_ENST00000355577.3_5'UTR Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 522 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) AATGGCTCTAGAAATATTCTT 0.428000 4 75 0 0 1 0 0 LPHN1 22859 broad.mit.edu 37 19 14273687 14273687 + Nonsense_Mutation SNP G G T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:14273687G>T ENST00000340736.6 - 6 1238 c.941C>A c.(940-942)tCg>tAg p.S314* CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Nonsense_Mutation_p.S309* NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 314 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GTTGGATGCCGAGCGCTTGTC 0.627000 3 19 0.115264 0.115898 1 1 0 TFEC 22797 broad.mit.edu 37 7 115624399 115624399 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:115624399G>C ENST00000265440.7 - 2 277 c.97C>G c.(97-99)Ctg>Gtg p.L33V TFEC_ENST00000484212.1_Missense_Mutation_p.L123V|TFEC_ENST00000320239.7_Missense_Mutation_p.L33V|TFEC_ENST00000393485.1_Missense_Mutation_p.L33V NM_012252.3 NP_036384.1 O14948 TFEC_HUMAN transcription factor EC 33 Necessary for transcriptional transactivation. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) TCACTGTCCAGAGTTGTGTGT 0.468000 32 148 0 0 1 0 0 CCR3 1232 broad.mit.edu 37 3 46306895 46306895 + Silent SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:46306895C>G ENST00000357422.2 + 4 789 c.246C>G c.(244-246)ctC>ctG p.L82L CCR3_ENST00000545097.1_Silent_p.L103L|CCR3_ENST00000541018.1_Silent_p.L82L|CCR3_ENST00000395940.2_Silent_p.L82L|CCR3_ENST00000395942.2_Silent_p.L82L P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 82 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) CGGACCTGCTCTTCCTCGTCA 0.498000 12 208 0 0 1 0 0 GSG2 83903 broad.mit.edu 37 17 3628001 3628001 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:3628001G>C ENST00000325418.4 + 1 791 c.772G>C c.(772-774)Gag>Cag p.E258Q ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_5'UTR NM_031965.2 NP_114171.2 Q8TF76 HASP_HUMAN germ cell associated 2 (haspin) 258 cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity TGAGGATTCTGAGTTTCGGGC 0.542000 14 70 0 0 1 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070607 32070607 + RNA SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:32070607C>G ENST00000566806.1 - 0 499 GTGAAGGTCTCCTGCAAGGCT 0.557000 4 79 0 0 1 0 0 KLHL20 27252 broad.mit.edu 37 1 173703360 173703360 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:173703360G>A ENST00000209884.4 + 3 668 c.532G>A c.(532-534)Gac>Aac p.D178N KLHL20_ENST00000493170.1_3'UTR|KLHL20_ENST00000546011.1_Intron NM_014458.3 NP_055273.2 Q9Y2M5 KLH20_HUMAN kelch-like family member 20 178 BACK. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1) 34 GGCTTTTGCTGACACACATTC 0.463000 6 80 0 0 1 0 0 RPL23A 6147 broad.mit.edu 37 17 27047838 27047838 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:27047838C>T ENST00000422514.2 + 2 752 c.139C>T c.(139-141)Cgg>Tgg p.R47W RPL23A_ENST00000472628.1_5'UTR|RPL23A_ENST00000394938.4_Missense_Mutation_p.R85W|RPL23A_ENST00000496182.1_5'UTR NM_000984.5 NP_000975.2 P62750 RL23A_HUMAN ribosomal protein L23a 47 cell proliferation|endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus nucleotide binding|protein binding|rRNA binding|structural constituent of ribosome endometrium(1)|lung(3)|ovary(1) 5 Lung NSC(42;0.00431) ACCCACCTTCCGGCGGCCGAA 0.537000 OREG0024282 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 49 0 0 1 0 0 NCOA4 8031 broad.mit.edu 37 10 51584673 51584673 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:51584673G>C ENST00000452682.1 + 9 1072 c.820G>C c.(820-822)Gaa>Caa p.E274Q NCOA4_ENST00000344348.6_Missense_Mutation_p.E258Q|NCOA4_ENST00000374082.1_Missense_Mutation_p.E258Q|NCOA4_ENST00000430396.2_Missense_Mutation_p.E158Q|NCOA4_ENST00000443446.1_Missense_Mutation_p.E258Q|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000374087.4_Missense_Mutation_p.E258Q|NCOA4_ENST00000438493.1_Missense_Mutation_p.E274Q|NCOA4_ENST00000414907.2_Missense_Mutation_p.E92Q NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 258 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 AAAGGGCTTAGAAAACTGGCT 0.383000 T RET papillary thyroid 21 107 0 0 1 0 0 PTCH1 5727 broad.mit.edu 37 9 98209579 98209579 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:98209579C>T ENST00000430669.2 - 23 4346 c.3761G>A c.(3760-3762)aGa>aAa p.R1254K PTCH1_ENST00000437951.1_Missense_Mutation_p.R1254K|PTCH1_ENST00000429896.2_Missense_Mutation_p.R1169K|PTCH1_ENST00000375274.2_Missense_Mutation_p.R1319K|PTCH1_ENST00000421141.1_Missense_Mutation_p.R1169K|PTCH1_ENST00000331920.6_Missense_Mutation_p.R1320K|PTCH1_ENST00000418258.1_Missense_Mutation_p.R1169K Q13635 PTC1_HUMAN patched 1 1320 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) AAAAGCGTCTCTGCGCGGTCT 0.667000 17 77 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5789126 5789126 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:5789126G>A ENST00000328090.5 + 15 4367 c.3742G>A c.(3742-3744)Gaa>Aaa p.E1248K NM_017782.4 NP_060252 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1248 TCCAAACACTGAAAATATGAA 0.408000 48 83 0 0 1 0 0 PTAFR 5724 broad.mit.edu 37 1 28477482 28477482 + Silent SNP G G T rs143590918 TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:28477482G>T ENST00000373857.3 - 2 685 c.51C>A c.(49-51)ctC>ctA p.L17L PTAFR_ENST00000539896.1_Silent_p.L17L|PTAFR_ENST00000305392.3_Silent_p.L17L NM_000952.4|NM_001164722.2|NM_001164723.2 NP_000943.1|NP_001158194.1|NP_001158195.1 P25105 PTAFR_HUMAN platelet-activating factor receptor 17 chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1) 15 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) CAATCGGGAAGAGAGTGTATC 0.527000 8 49 0.000673444 0.000687552 1 1 0 KIDINS220 57498 broad.mit.edu 37 2 8870993 8870993 + Nonsense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:8870993G>A ENST00000256707.3 - 30 5354 c.5173C>T c.(5173-5175)Cag>Tag p.Q1725* KIDINS220_ENST00000473731.1_Nonsense_Mutation_p.Q1706*|KIDINS220_ENST00000427284.1_Nonsense_Mutation_p.Q1706*|KIDINS220_ENST00000418530.1_Nonsense_Mutation_p.Q1626* NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1725 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TTCTCATTCTGAATAGTGGTT 0.463000 19 61 0 0 1 0 0 DPRX 503834 broad.mit.edu 37 19 54139992 54139992 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:54139992G>C ENST00000376650.1 + 3 377 c.326G>C c.(325-327)aGa>aCa p.R109T NM_001012728.1 NP_001012746.1 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 109 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R109I(1) endometrium(4)|large_intestine(1)|lung(7) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) ACACTACCCAGATTGCCCAAC 0.542000 44 81 0 0 1 0 0 PSMC1 5700 broad.mit.edu 37 14 90735763 90735763 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:90735763G>C ENST00000261303.8 + 9 1007 c.904G>C c.(904-906)Gag>Cag p.E302Q PSMC1_ENST00000543772.2_Missense_Mutation_p.E229Q NM_002802.2 NP_002793.2 P62191 PRS4_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 1 302 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding endometrium(2)|kidney(2)|upper_aerodigestive_tract(2) 6 all_cancers(154;0.142) COAD - Colon adenocarcinoma(157;0.21) TTCTGGTGGTGAGAGAGAAAT 0.418000 13 77 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72956777 72956777 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr12:72956777G>C ENST00000261180.4 + 9 1960 c.1864G>C c.(1864-1866)Gat>Cat p.D622H TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 622 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TTTTATCTATGATATCAGTGC 0.323000 58 41 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163230025 163230025 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:163230025C>T ENST00000332142.5 - 15 3378 c.3279G>A c.(3277-3279)ccG>ccA p.P1093P NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 1093 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) TGGATGCTTCCGGTTGACTGG 0.493000 6 113 0 0 1 0 0 ENTHD1 150350 broad.mit.edu 37 22 40139834 40139834 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr22:40139834C>T ENST00000325157.6 - 7 1924 c.1674G>A c.(1672-1674)gcG>gcA p.A558A NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 558 breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) ATCTAGCGATCGCACGTTTTA 0.413000 7 60 0 0 1 0 0 ELOVL3 83401 broad.mit.edu 37 10 103987407 103987407 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:103987407G>A ENST00000370005.3 + 2 347 c.126G>A c.(124-126)ctG>ctA p.L42L NM_152310.1 NP_689523.1 Q9HB03 ELOV3_HUMAN ELOVL fatty acid elongase 3 42 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1) 16 Colorectal(252;0.207) Epithelial(162;4.47e-08)|all cancers(201;7.96e-07) CCATAGCCCTGATCTACCTGG 0.557000 4 78 0 0 1 0 0 ATP1B2 482 broad.mit.edu 37 17 7557505 7557505 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:7557505C>G ENST00000250111.4 + 4 889 c.482C>G c.(481-483)tCc>tGc p.S161C NM_001678.3 NP_001669.3 P14415 AT1B2_HUMAN ATPase, Na+/K+ transporting, beta 2 polypeptide 161 ATP biosynthetic process|blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|sodium:potassium-exchanging ATPase activity p.0?(2)|p.?(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1) 10 all_cancers(10;0.000178)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168) GGCAACTGCTCCGGCATTGGG 0.562000 45 214 0 0 1 0 0 CHIA 27159 broad.mit.edu 37 1 111862083 111862083 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:111862083G>A ENST00000369740.1 + 11 1273 c.1170G>A c.(1168-1170)caG>caA p.Q390Q CHIA_ENST00000451398.2_Silent_p.Q229Q|CHIA_ENST00000483391.1_Silent_p.Q229Q|CHIA_ENST00000430615.1_Silent_p.Q282Q|CHIA_ENST00000353665.6_Silent_p.Q229Q|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000343320.6_Silent_p.Q390Q NM_001258001.1|NM_201653.3 NP_001244930.1|NP_970615.2 Q9BZP6 CHIA_HUMAN chitinase, acidic 390 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) TCGGCCTGCAGAGTGCAAGTA 0.542000 24 29 0 0 1 0 0 MAP2K6 5608 broad.mit.edu 37 17 67519677 67519677 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:67519677C>T ENST00000590474.1 + 8 845 c.558C>T c.(556-558)ctC>ctT p.L186L MAP2K6_ENST00000589647.1_Silent_p.L130L NM_002758.3 NP_002749.2 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 186 Protein kinase. activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 20 Breast(10;6.05e-10) CTAATGTACTCATCAATGCTC 0.448000 75 136 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53607319 53607319 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr12:53607319C>T ENST00000425354.2 - 8 1466 c.979G>A c.(979-981)Gag>Aag p.E327K RARG_ENST00000394426.1_Missense_Mutation_p.E327K|RARG_ENST00000338561.5_Missense_Mutation_p.E316K|RARG_ENST00000543726.1_Missense_Mutation_p.E305K|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.E255K NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 327 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) AGCCCTGTCTCGGTGTCATCC 0.647000 OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 17 0 0 1 0 0 MED15 51586 broad.mit.edu 37 22 20920999 20920999 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr22:20920999G>C ENST00000263205.7 + 7 1005 c.936G>C c.(934-936)caG>caC p.Q312H MED15_ENST00000541476.1_Missense_Mutation_p.Q286H|MED15_ENST00000542773.1_Missense_Mutation_p.Q117H|MED15_ENST00000425759.2_Missense_Mutation_p.Q201H|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.Q241H|MED15_ENST00000406969.1_Missense_Mutation_p.Q286H|MED15_ENST00000292733.7_Missense_Mutation_p.Q312H NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 312 Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) CAGTTGCTCAGAACCAACCAT 0.612000 7 110 0 0 1 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130392177 130392177 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:130392177G>C ENST00000529410.1 + 15 1628 c.1149G>C c.(1147-1149)aaG>aaC p.K383N L3MBTL3_ENST00000533560.1_Missense_Mutation_p.K358N|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.K383N|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.K358N|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.K383N|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.K358N Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 383 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) TAGACAAAAAGAATCCCTCAT 0.423000 59 289 0 0 1 0 0 GNAL 2774 broad.mit.edu 37 18 11876640 11876640 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr18:11876640G>A ENST00000334049.6 + 11 1791 c.1183G>A c.(1183-1185)Gat>Aat p.D395N GNAL_ENST00000423027.3_Missense_Mutation_p.D318N|GNAL_ENST00000269162.5_Missense_Mutation_p.D318N|GNAL_ENST00000535121.1_Missense_Mutation_p.D318N|GNAL_ENST00000602628.1_Missense_Mutation_p.D111N NM_182978.3 NP_892023.1 P38405 GNAL_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 318 activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission heterotrimeric G-protein complex adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1) 12 TGCAGGAGAAGATCCCAAAGT 0.358000 10 132 0 0 1 0 0 CHAMP1 283489 broad.mit.edu 37 13 115090645 115090645 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr13:115090645C>T ENST00000361283.1 + 3 1637 c.1328C>T c.(1327-1329)tCa>tTa p.S443L NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 443 Mediates interaction with MAD2L2.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding AGAAAACCCTCAGGGTCACCA 0.537000 72 151 0 0 1 0 0 ADPRHL1 113622 broad.mit.edu 37 13 114077230 114077230 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr13:114077230G>A ENST00000356501.4 - 7 901 c.726C>T c.(724-726)ctC>ctT p.L242L ADPRHL1_ENST00000375418.3_Silent_p.L324L NM_199162.1 NP_954631.1 Q8NDY3 ARHL1_HUMAN ADP-ribosylhydrolase like 1 324 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 11 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116) CTTTGGGAACGAGGTCCAGGC 0.617000 6 83 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80529917 80529917 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:80529917G>A ENST00000295057.3 - 2 1684 c.1028C>T c.(1027-1029)gCc>gTc p.A343V CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.A343V|CTNNA2_ENST00000466387.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 343 LRRCT. axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 CTCCGGGCTGGCGCACTGCAA 0.677000 HNSCC(69;0.2) 8 13 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197654765 197654765 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:197654765G>A ENST00000263956.3 - 5 654 c.565C>T c.(565-567)Cta>Tta p.L189L GTF3C3_ENST00000409364.3_Silent_p.L189L|GTF3C3_ENST00000470386.1_5'UTR NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 189 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 ATCATGGCTAGAGTAGAGAAT 0.403000 11 54 0 0 1 0 0 MAPK3 5595 broad.mit.edu 37 16 30128229 30128229 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:30128229C>T ENST00000484663.1 - 6 1794 c.661G>A c.(661-663)Gac>Aac p.D221N MAPK3_ENST00000403394.1_Missense_Mutation_p.D335N|MAPK3_ENST00000395199.3_Missense_Mutation_p.D335N|MAPK3_ENST00000322266.5_Missense_Mutation_p.D291N|MAPK3_ENST00000395200.1_Missense_Mutation_p.D267N|MAPK3_ENST00000263025.4_Missense_Mutation_p.D335N|MAPK3_ENST00000395202.1_Missense_Mutation_p.D291N P27361 MK03_HUMAN mitogen-activated protein kinase 3 335 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) TCCGTCGGGTCATAGTACTGC 0.627000 16 135 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98581089 98581089 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:98581089C>T ENST00000359863.4 + 59 9217 c.9008C>T c.(9007-9009)cCg>cTg p.P3003L TRRAP_ENST00000355540.3_Intron|TRRAP_ENST00000446306.3_Intron NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3003 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) cagggtaaaccgacctggtcc 0.507000 22 20 0 0 1 0 0 TAF7L 54457 broad.mit.edu 37 X 100542501 100542501 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chrX:100542501C>T ENST00000372907.3 - 2 300 c.289G>A c.(289-291)Gaa>Aaa p.E97K TAF7L_ENST00000324762.6_Missense_Mutation_p.E11K|TAF7L_ENST00000356784.1_Missense_Mutation_p.E11K|TAF7L_ENST00000372905.2_Missense_Mutation_p.E11K NM_024885.3 NP_079161.3 Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa 97 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 TTCTCAACTTCATCAGGAACT 0.348000 4 31 0 0 1 0 0 SIPA1 6494 broad.mit.edu 37 11 65412521 65412521 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:65412521C>T ENST00000394224.3 + 5 1376 c.1080C>T c.(1078-1080)ttC>ttT p.F360F SIPA1_ENST00000534313.1_Silent_p.F360F|SIPA1_ENST00000394227.3_Silent_p.F360F|SIPA1_ENST00000527525.1_Silent_p.F360F NM_153253.29 NP_694985.29 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated 1 360 Rap-GAP. cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 GACCGGCCTTCATGCAGTTTC 0.622000 25 107 0 0 1 0 0 GLUD2 2747 broad.mit.edu 37 X 120181908 120181908 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chrX:120181908C>T ENST00000328078.1 + 1 447 c.370C>T c.(370-372)Cgc>Tgc p.R124C NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 124 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) CCCCATCCGGCGCGACGACGG 0.642000 18 24 0 0 1 0 0 RRAS 6237 broad.mit.edu 37 19 50138855 50138855 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:50138855C>T ENST00000246792.3 - 6 737 c.635G>A c.(634-636)gGc>gAc p.G212D NM_006270.3 NP_006261.1 P10301 RRAS_HUMAN related RAS viral (r-ras) oncogene homolog 212 axon guidance|Ras protein signal transduction|synaptic transmission intracellular|plasma membrane GDP binding|GTP binding|GTPase activity|protein binding endometrium(1)|kidney(1)|lung(2)|ovary(2) 6 OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206) GCAGGGGCAGCCCCCGCCCTT 0.617000 50 72 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51219704 51219704 + Missense_Mutation SNP A A G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:51219704A>G ENST00000293441.1 - 2 305 c.287T>C c.(286-288)aTc>aCc p.I96T SHANK1_ENST00000391814.1_Missense_Mutation_p.I96T|SHANK1_ENST00000359082.3_Missense_Mutation_p.I96T NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 96 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding 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) GGCCGTCCAGATGGTGGCATC 0.637000 20 45 0 0 1 0 0 LUZP2 338645 broad.mit.edu 37 11 24759813 24759813 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:24759813G>A ENST00000533227.1 + 4 327 c.40G>A c.(40-42)Gag>Aag p.E14K LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000336930.6_Missense_Mutation_p.E100K NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 100 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 TCAGCTTAAGGAGACATCAGA 0.363000 6 20 0 0 1 0 0 RIN1 9610 broad.mit.edu 37 11 66100867 66100867 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:66100867C>T ENST00000311320.4 - 9 1863 c.1737G>A c.(1735-1737)ctG>ctA p.L579L RIN1_ENST00000530056.1_Silent_p.L413L|RIN1_ENST00000424433.2_Silent_p.L474L|RIN1_ENST00000524804.1_5'UTR NM_004292.2 NP_004283.2 Q13671 RIN1_HUMAN Ras and Rab interactor 1 579 Ras and 14-3-3 protein binding region.|VPS9. endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1) 14 AGAGGCTGGTCAGGTAGTAGC 0.672000 3 29 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62237176 62237176 + Nonsense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:62237176C>T ENST00000371158.2 + 6 712 c.598C>T c.(598-600)Cag>Tag p.Q200* INADL_ENST00000316485.6_Nonsense_Mutation_p.Q200* NM_176877.2 NP_795352 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 200 PDZ 1. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 CATTTCCCATCAGCAAGCAAT 0.373000 5 59 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10335485 10335485 + Splice_Site SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:10335485G>C ENST00000377086.1 + 11 1084 c.e11-1 KIF1B_ENST00000263934.6_Splice_Site|KIF1B_ENST00000377093.4_Splice_Site|KIF1B_ENST00000377083.1_Splice_Site|KIF1B_ENST00000377081.1_Splice_Site O60333 KIF1B_HUMAN kinesin family member 1B anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TCCTTTAATAGAGTAAAAAGA 0.323000 11 66 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132445298 132445298 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr12:132445298C>T ENST00000333577.4 + 2 243 c.134C>T c.(133-135)tCa>tTa p.S45L EP400_ENST00000332482.4_Missense_Mutation_p.S45L|EP400_ENST00000389562.2_Missense_Mutation_p.S45L|EP400_ENST00000330386.6_Missense_Mutation_p.S45L|EP400_ENST00000389561.2_Missense_Mutation_p.S45L Q96L91 EP400_HUMAN E1A binding protein p400 45 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TTCGCTCCCTCAGCAAGCCCG 0.652000 16 12 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75097549 75097549 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:75097549G>C ENST00000326665.5 - 7 885 c.667C>G c.(667-669)Caa>Gaa p.Q223E C1orf173_ENST00000420661.2_Missense_Mutation_p.Q26E NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 223 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TTTGGAAGTTGATATGAATTC 0.403000 37 48 0 0 1 0 0 CD2AP 23607 broad.mit.edu 37 6 47563717 47563717 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:47563717C>G ENST00000359314.5 + 12 1685 c.1229C>G c.(1228-1230)cCa>cGa p.P410R NM_012120.2 NP_036252.1 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 410 Pro-rich. cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton p.P410Q(1) kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) ACAGTGTACCCAAAGCGACCT 0.423000 29 176 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151860518 151860518 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:151860518G>A ENST00000355193.2 - 43 10362 c.10144C>T c.(10144-10146)Cgg>Tgg p.R3382W KMT2C_ENST00000262189.6_Missense_Mutation_p.R3382W lysine (K)-specific methyltransferase 2C AATTCTACCCGAGGTGGTGGT 0.458000 63 108 0 0 1 0 0 CLCA4 22802 broad.mit.edu 37 1 87045216 87045216 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:87045216G>A ENST00000370563.3 + 13 2344 c.2302G>A c.(2302-2304)Gat>Aat p.D768N RP4-651E10.4_ENST00000456587.1_RNA NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 768 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) AGTTCATGAGGATAAGATTAT 0.423000 7 170 0 0 1 0 0 TIGD4 201798 broad.mit.edu 37 4 153691640 153691640 + Missense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:153691640C>A ENST00000304337.2 - 2 1337 c.517G>T c.(517-519)Gat>Tat p.D173Y NM_145720.3 NP_663772.1 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 173 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) GGATGATAATCATTTAAATAA 0.353000 34 72 8.88839e-20 9.72667e-20 1 1 0 OSBPL7 114881 broad.mit.edu 37 17 45897373 45897373 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:45897373G>A ENST00000007414.3 - 3 356 c.165C>T c.(163-165)ctC>ctT p.L55L OSBPL7_ENST00000392507.3_Silent_p.L55L NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 55 PH. lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 TCCTCTTCTTGAGCAGGTGAC 0.652000 3 24 0 0 1 0 0 TACR1 6869 broad.mit.edu 37 2 75280808 75280808 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:75280808C>T ENST00000305249.5 - 3 1424 c.659G>A c.(658-660)gGa>gAa p.G220E TACR1_ENST00000409848.3_Missense_Mutation_p.G220E NM_001058.3 NP_001049.1 P25103 NK1R_HUMAN tachykinin receptor 1 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1) 24 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) TAGTGTGATTCCCACTACGGT 0.552000 OREG0014726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 44 0 0 1 0 0 DLL4 54567 broad.mit.edu 37 15 41228778 41228778 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:41228778C>T ENST00000249749.5 + 9 1869 c.1593C>T c.(1591-1593)gcC>gcT p.A531A NM_019074.3 NP_061947.1 Q9NR61 DLL4_HUMAN delta-like 4 (Drosophila) 531 blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(3)|large_intestine(1) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) CCTGGGTGGCCGTCTCGCTGG 0.672000 8 10 0 0 1 0 0 AKT1 207 broad.mit.edu 37 14 105243078 105243078 + Silent SNP G G T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:105243078G>T ENST00000554581.1 - 3 1685 c.205C>A c.(205-207)Cgg>Agg p.R69R AKT1_ENST00000349310.3_Silent_p.R69R|AKT1_ENST00000554848.1_Silent_p.R69R|AKT1_ENST00000402615.2_Silent_p.R69R|AKT1_ENST00000407796.2_Silent_p.R69R|AKT1_ENST00000555528.1_Silent_p.R69R|AKT1_ENST00000544168.1_Silent_p.R7R P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 69 PH. activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) GTGTTGGGCCGGGGCCGCTCC 0.672000 1 Mis """breast, colorectal, ovarian, NSCLC""" 14 35 6.72482e-11 7.18691e-11 1 1 0 MPL 4352 broad.mit.edu 37 1 43805111 43805111 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:43805111G>A ENST00000372470.3 + 4 603 c.561G>A c.(559-561)ctG>ctA p.L187L MPL_ENST00000413998.2_Silent_p.L187L NM_005373.2 NP_005364.1 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 187 Fibronectin type-III 1. cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TCATACAGCTGATTGCCACAG 0.577000 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 41 75 0 0 1 0 0 STXBP3 6814 broad.mit.edu 37 1 109339276 109339276 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:109339276G>A ENST00000370008.3 + 15 1334 c.1284G>A c.(1282-1284)caG>caA p.Q428Q NM_007269.2 NP_009200.2 O00186 STXB3_HUMAN syntaxin binding protein 3 428 negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1) 13 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) GGTTGATCCAGAATGTAAAGA 0.353000 6 62 0 0 1 0 0 DLGAP5 9787 broad.mit.edu 37 14 55618550 55618550 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:55618550C>G ENST00000247191.2 - 17 2447 c.2231G>C c.(2230-2232)gGa>gCa p.G744A DLGAP5_ENST00000395425.2_Missense_Mutation_p.G744A NM_014750.4 NP_055565.3 Q15398 DLGP5_HUMAN discs, large (Drosophila) homolog-associated protein 5 744 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 ATCTGAAATTCCTTCTTTTTT 0.368000 16 67 0 0 1 0 0 C3orf36 80111 broad.mit.edu 37 3 133647541 133647541 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:133647541G>C ENST00000408895.2 - 1 1115 c.107C>G c.(106-108)tCt>tGt p.S36C NM_025041.2 NP_079317.2 Q3SXR2 CC036_HUMAN chromosome 3 open reading frame 36 36 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 6 TGAGGGGGCAGAGAGACACGT 0.607000 12 50 0 0 1 0 0 GAP43 2596 broad.mit.edu 37 3 115395213 115395213 + Silent SNP T T C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:115395213T>C ENST00000393780.3 + 3 960 c.492T>C c.(490-492)ccT>ccC p.P164P GAP43_ENST00000305124.6_Silent_p.P128P NM_001130064.1 NP_001123536.1 P17677 NEUM_HUMAN growth associated protein 43 128 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 32 GBM - Glioblastoma multiforme(114;0.164) CCCAGGCTCCTGCATCCTCAG 0.602000 21 35 0 0 1 0 0 GRM5 2915 broad.mit.edu 37 11 88583124 88583124 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:88583124C>T ENST00000418177.2 - 3 1228 c.861G>A c.(859-861)ctG>ctA p.L287L GRM5_ENST00000305447.4_Silent_p.L287L|GRM5_ENST00000305432.5_Silent_p.L287L|GRM5_ENST00000455756.2_Silent_p.L287L|GRM5_ENST00000393297.1_Silent_p.L287L P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 287 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TCATGGCCATCAGCAGACCTC 0.517000 35 50 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70359471 70359471 + Silent SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:70359471G>C ENST00000305107.6 - 2 856 c.810C>G c.(808-810)ctC>ctG p.L270L UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Silent_p.L270L|UGT2B4_ENST00000381096.3_Silent_p.L134L NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 270 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 CATTTGGTAAGAGTGGGTGAG 0.433000 8 146 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1414637 1414637 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:1414637G>C ENST00000446702.2 + 14 2411 c.1784G>C c.(1783-1785)aGa>aCa p.R595T CNTN6_ENST00000539053.1_Missense_Mutation_p.R523T|CNTN6_ENST00000350110.2_Missense_Mutation_p.R595T Q9UQ52 CNTN6_HUMAN contactin 6 595 axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) ATCATTGTTAGAGGTAAGCAT 0.353000 7 97 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2832056 2832056 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr8:2832056C>G ENST00000602557.1 - 57 9215 c.8660G>C c.(8659-8661)aGa>aCa p.R2887T CSMD1_ENST00000537824.1_Missense_Mutation_p.R2886T|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2829T|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2829T|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2828T|CSMD1_ENST00000520002.1_Missense_Mutation_p.R2887T Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2887 Sushi 21. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTCGCTCCCTCTGCAGGAGTA 0.597000 12 16 0 0 1 0 0 ARPC3 10094 broad.mit.edu 37 12 110874486 110874486 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr12:110874486G>A ENST00000228825.7 - 5 401 c.255C>T c.(253-255)tgC>tgT p.C85C RP11-478C19.2_ENST00000550231.1_RNA NM_001278556.1|NM_005719.2 NP_001265485.1|NP_005710.1 O15145 ARPC3_HUMAN actin related protein 2/3 complex, subunit 3, 21kDa 85 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton lung(1)|ovary(1) 2 TTTTGGAATTGCACTGGaaaa 0.368000 7 27 0 0 1 0 0 STRBP 55342 broad.mit.edu 37 9 125910117 125910117 + Nonsense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:125910117C>A ENST00000447404.2 - 11 1382 c.1078G>T c.(1078-1080)Gaa>Taa p.E360* STRBP_ENST00000348403.5_Nonsense_Mutation_p.E360*|STRBP_ENST00000360998.3_Nonsense_Mutation_p.E346* Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 360 multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2) 26 AATCCATCTTCAAATGGCCTC 0.368000 4 15 0.184627 0.185388 1 1 0 BCLAF1 9774 broad.mit.edu 37 6 136589379 136589379 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:136589379C>T ENST00000531224.1 - 10 2570 c.2318G>A c.(2317-2319)aGa>aAa p.R773K BCLAF1_ENST00000392348.2_Missense_Mutation_p.R771K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R771K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R771K|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R773K|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R600K NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 773 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding p.R773I(1) 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) TTCTTCTTCTCTTTCCTTCTT 0.383000 19 203 0 0 1 0 0 HSD17B13 345275 broad.mit.edu 37 4 88238288 88238288 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:88238288C>T ENST00000328546.4 - 3 470 c.406G>A c.(406-408)Gag>Aag p.E136K HSD17B13_ENST00000302219.6_Missense_Mutation_p.E100K NM_178135.3 NP_835236.2 Q7Z5P4 DHB13_HUMAN hydroxysteroid (17-beta) dehydrogenase 13 136 extracellular region binding|oxidoreductase activity endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 8 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.000308) TTGGTAATCTCTTCATCCTTG 0.403000 39 57 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112103071 112103071 + Nonsense_Mutation SNP G G T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:112103071G>T ENST00000457016.1 + 4 786 c.406G>T c.(406-408)Gaa>Taa p.E136* APC_ENST00000257430.4_Nonsense_Mutation_p.E136*|APC_ENST00000508376.2_Nonsense_Mutation_p.E136* P25054 APC_HUMAN adenomatous polyposis coli 136 Leu-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.E136K(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) ATATTTAGAAGAACTTGAGAA 0.338000 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) 35 16 2.75727e-19 3.0128e-19 1 1 0 COLGALT2 23127 broad.mit.edu 37 1 184006246 184006246 + Missense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:184006246C>A ENST00000361927.4 - 1 617 c.246G>T c.(244-246)aaG>aaT p.K82N COLGALT2_ENST00000546159.1_Missense_Mutation_p.K82N NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 CCATCCTGCTCTTGGGGTAGT 0.771000 4 14 1 1 1 1 0 SF3A1 10291 broad.mit.edu 37 22 30735229 30735229 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr22:30735229C>G ENST00000215793.8 - 10 1541 c.1387G>C c.(1387-1389)Gag>Cag p.E463Q SF3A1_ENST00000439242.1_Missense_Mutation_p.E398Q NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 AAGCTGCTCTCAATATCCAGA 0.493000 9 132 0 0 1 0 0 MYCN 4613 broad.mit.edu 37 2 16082542 16082542 + Missense_Mutation SNP G G T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:16082542G>T ENST00000281043.3 + 2 653 c.356G>T c.(355-357)gGc>gTc p.G119V NM_005378.4 NP_005369.2 P04198 MYCN_HUMAN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog 119 regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 31 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) ATGTGGAGCGGCTTCTCCGCC 0.741000 A neuroblastoma 3 13 0.115264 0.115898 1 1 0 SCAF11 9169 broad.mit.edu 37 12 46320089 46320089 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr12:46320089G>A ENST00000465950.1 - 1 3659 c.2450C>T c.(2449-2451)tCa>tTa p.S817L SCAF11_ENST00000549162.1_Missense_Mutation_p.S940L|SCAF11_ENST00000369367.3_Missense_Mutation_p.S1132L|SCAF11_ENST00000419565.2_Missense_Mutation_p.S1132L Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1132 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 TGTATCAAATGAGAACTCCTG 0.443000 27 83 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 82072690 82072690 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:82072690G>A ENST00000356860.3 - 1 424 c.86C>T c.(85-87)tCg>tTg p.S29L CACNA2D1_ENST00000423588.1_Missense_Mutation_p.S29L|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.S29L NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 29 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CGTGACGGCCGAAGGGAACGG 0.682000 7 21 0 0 1 0 0 NOP14 8602 broad.mit.edu 37 4 2951772 2951772 + Nonsense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:2951772C>A ENST00000416614.2 - 8 1236 c.1171G>T c.(1171-1173)Gaa>Taa p.E391* NOP14_ENST00000314262.6_Nonsense_Mutation_p.E391*|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000398071.4_Nonsense_Mutation_p.E391*|NOP14_ENST00000502735.1_Nonsense_Mutation_p.E391*|NOP14-AS1_ENST00000503709.1_RNA P78316 NOP14_HUMAN NOP14 nucleolar protein 391 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 30 TTCTCGTTTTCTTCCTCACTC 0.547000 11 288 3.45872e-05 3.58119e-05 1 1 0 UIMC1 51720 broad.mit.edu 37 5 176409576 176409576 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:176409576G>A ENST00000377219.2 - 2 207 c.41C>T c.(40-42)tCt>tTt p.S14F UIMC1_ENST00000506128.1_Missense_Mutation_p.S14F|UIMC1_ENST00000377227.4_Missense_Mutation_p.S14F|UIMC1_ENST00000511320.1_Missense_Mutation_p.S14F NM_016290.4 NP_057374.3 Q96RL1 UIMC1_HUMAN ubiquitin interaction motif containing 1 14 Necessary for transcriptional repression. double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex histone binding|K63-linked polyubiquitin binding NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 21 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGGTTCCGAGATTCGGAGAC 0.373000 11 67 0 0 1 0 0 GDPD3 79153 broad.mit.edu 37 16 30123483 30123483 + Missense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:30123483C>A ENST00000406256.3 - 6 920 c.543G>T c.(541-543)aaG>aaT p.K181N NM_024307.2 NP_077283.2 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain containing 3 181 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6) 11 TGACCGAGCTCTTCTCCGAGG 0.617000 OREG0023731 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 71 1.04858e-14 1.13725e-14 1 1 0 ABCC3 8714 broad.mit.edu 37 17 48735563 48735563 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:48735563G>A ENST00000285238.8 + 5 687 c.607G>A c.(607-609)Gac>Aac p.D203N ABCC3_ENST00000427699.1_Missense_Mutation_p.D203N NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 203 bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) AAAGAATGTCGACCCTGTGAG 0.567000 15 74 0 0 1 0 0 ALDH9A1 223 broad.mit.edu 37 1 165648806 165648806 + Nonsense_Mutation SNP G G T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:165648806G>T ENST00000354775.4 - 6 1107 c.803C>A c.(802-804)tCa>tAa p.S268* ALDH9A1_ENST00000538148.1_Nonsense_Mutation_p.S174* NM_000696.3 NP_000687.3 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9 family, member A1 244 carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process cytosol|plasma membrane 3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 21 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) NADH(DB00157) TCCTTTAGCTGACATCTCCAT 0.413000 25 154 3.65163e-15 3.96633e-15 1 1 0 CES3 23491 broad.mit.edu 37 16 66998585 66998585 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:66998585C>T ENST00000303334.4 + 6 845 c.774C>T c.(772-774)atC>atT p.I258I CES3_ENST00000394037.1_Silent_p.I258I NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 258 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) GTGGGGTCATCACCACCCCAG 0.587000 32 23 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102552238 102552238 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:102552238G>A ENST00000334701.7 - 4 1033 c.752C>T c.(751-753)tCt>tTt p.S251F HSP90AA1_ENST00000216281.8_Missense_Mutation_p.S129F|HSP90AA1_ENST00000441629.2_Intron NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 129 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) GCCAATCATAGAGATATCTGC 0.443000 5 88 0 0 1 0 0 LIM2 3982 broad.mit.edu 37 19 51890572 51890572 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:51890572C>T ENST00000221973.3 - 2 168 c.126G>A c.(124-126)ctG>ctA p.L42L LIM2_ENST00000596399.1_Silent_p.L42L NM_030657.3 NP_085915.2 P55344 LMIP_HUMAN lens intrinsic membrane protein 2, 19kDa 42 cell-cell junction assembly cell junction|integral to membrane structural constituent of eye lens endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985) AGTACCGCCACAGGCCCTGGT 0.667000 23 85 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116380132 116380132 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:116380132G>A ENST00000397752.3 + 4 1721 c.1521G>A c.(1519-1521)ggG>ggA p.G507G MET_ENST00000495962.1_3'UTR|MET_ENST00000436117.2_Silent_p.G507G|MET_ENST00000318493.6_Silent_p.G507G NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 507 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TTATCACTGGGAAGAAGGTAA 0.438000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 7 135 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138619775 138619775 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:138619775G>A ENST00000251691.4 + 22 3847 c.3681G>A c.(3679-3681)caG>caA p.Q1227Q NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 1227 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) ATGTGTCTCAGAAGGCTGTTT 0.473000 28 25 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62018968 62018968 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:62018968C>T ENST00000578147.1 - 24 4750 c.4674G>A c.(4672-4674)gaG>gaA p.E1558E SCN4A_ENST00000435607.1_Silent_p.E1558E P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1558 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TGCCCGGGTTCTCCAGGTTGG 0.602000 13 28 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139701194 139701194 + Missense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr8:139701194C>A ENST00000303045.6 - 37 3274 c.2828G>T c.(2827-2829)gGc>gTc p.G943V COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G943V NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 943 Collagen-like 8.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity p.G943V(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCCTGGGGTGCCTCTGAGGCC 0.512000 HNSCC(7;0.00092) 12 66 1.15088e-07 1.20702e-07 1 1 0 CACNG1 786 broad.mit.edu 37 17 65052309 65052309 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:65052309C>T ENST00000226021.3 + 4 662 c.591C>T c.(589-591)ctC>ctT p.L197L NM_000727.3 NP_000718.1 Q06432 CCG1_HUMAN calcium channel, voltage-dependent, gamma subunit 1 197 muscle contraction voltage-gated calcium channel complex voltage-gated calcium channel activity breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2) 8 all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12) Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661) TCGGCGGTCTCGCCCTCCTGC 0.612000 11 63 0 0 1 0 0 GATA6 2627 broad.mit.edu 37 18 19762943 19762943 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr18:19762943C>G ENST00000269216.3 + 6 1836 c.1559C>G c.(1558-1560)tCt>tGt p.S520C GATA6_ENST00000581694.1_Missense_Mutation_p.S520C NM_005257.4 NP_005248.2 Q92908 GATA6_HUMAN GATA binding protein 6 520 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) ACTTCCACCTCTTCTAACTCA 0.393000 76 51 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202700976 202700976 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:202700976C>T ENST00000367265.3 - 24 5165 c.4001G>A c.(4000-4002)cGa>cAa p.R1334Q KDM5B_ENST00000367264.2_Missense_Mutation_p.R1370Q NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1334 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 GATACAACTTCGTCCAGTTGA 0.408000 7 75 0 0 1 0 0 NSUN6 221078 broad.mit.edu 37 10 18940106 18940106 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:18940106C>G ENST00000377304.4 - 1 445 c.27G>C c.(25-27)ttG>ttC p.L9F RP11-139J15.7_ENST00000606425.1_Intron NM_182543.2 NP_872349.1 Q8TEA1 NSUN6_HUMAN NOP2/Sun domain family, member 6 9 methyltransferase activity|RNA binding endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 CCTCAGGTCTCAAAGATATCT 0.333000 41 81 0 0 1 0 0 TRPM7 54822 broad.mit.edu 37 15 50911948 50911948 + Silent SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:50911948G>C ENST00000313478.7 - 13 1769 c.1488C>G c.(1486-1488)gtC>gtG p.V496V TRPM7_ENST00000560955.1_Silent_p.V496V NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 496 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TTACCTGTTTGACGTCTCGAA 0.234000 3 31 0 0 1 0 0 GSTM3 2947 broad.mit.edu 37 1 110280351 110280351 + Nonsense_Mutation SNP A A T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:110280351A>T ENST00000540225.1 - 7 705 c.395T>A c.(394-396)tTg>tAg p.L132* GSTM3_ENST00000488824.1_5'UTR|GSTM3_ENST00000361066.2_Nonsense_Mutation_p.L132*|RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000256594.3_Nonsense_Mutation_p.L132* P21266 GSTM3_HUMAN glutathione S-transferase mu 3 (brain) 132 GST C-terminal. establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus cytoplasm glutathione transferase activity|identical protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1) 9 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) TAGCTCTTCCAAGTACTGAGG 0.433000 45 93 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15406428 15406428 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:15406428G>A ENST00000225576.3 - 6 676 c.581C>T c.(580-582)tCg>tTg p.S194L TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Missense_Mutation_p.S151L NM_145301.2 NP_660344.2 trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) AAACTTCCTCGAGGGATggcc 0.562000 3 20 0 0 1 0 0 APOBEC3B 9582 broad.mit.edu 37 22 39380188 39380188 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr22:39380188G>A ENST00000402182.3 + 2 181 c.126G>A c.(124-126)aaG>aaA p.K42K APOBEC3B_ENST00000407298.3_Silent_p.K42K|APOBEC3B_ENST00000333467.3_Silent_p.K42K Q9UH17 ABC3B_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B 42 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding p.K42K(1) cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 13 Melanoma(58;0.04) TGAAAATAAAGAGGGGCCGCT 0.488000 4 71 0 0 1 0 0 ERMARD 55780 broad.mit.edu 37 6 170156863 170156863 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:170156863C>T ENST00000588451.1 + 5 601 c.88C>T c.(88-90)Ctt>Ttt p.L30F ERMARD_ENST00000366773.3_Missense_Mutation_p.L156F|ERMARD_ENST00000418781.3_Missense_Mutation_p.L156F|ERMARD_ENST00000392095.4_Missense_Mutation_p.L30F|ERMARD_ENST00000366772.2_Missense_Mutation_p.L156F ER membrane-associated RNA degradation 156 AAGAGATCTGCTTTCATCTGA 0.358000 30 87 0 0 1 0 0 TMEM130 222865 broad.mit.edu 37 7 98446226 98446226 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:98446226G>C ENST00000450876.1 - 7 2162 c.847C>G c.(847-849)Cag>Gag p.Q283E TMEM130_ENST00000345589.4_Missense_Mutation_p.Q265E|TMEM130_ENST00000339375.4_Missense_Mutation_p.Q367E|TMEM130_ENST00000546258.1_Missense_Mutation_p.Q348E|TMEM130_ENST00000416379.2_Missense_Mutation_p.Q367E Q8N3G9 TM130_HUMAN transmembrane protein 130 367 Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCCTTTTGCTGAGTGGCATTC 0.552000 11 96 0 0 1 0 0 SSFA2 6744 broad.mit.edu 37 2 182786999 182786999 + Missense_Mutation SNP G G A rs61736565 byFrequency TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:182786999G>A ENST00000431877.2 + 16 3714 c.3535G>A c.(3535-3537)Gat>Aat p.D1179N SSFA2_ENST00000320370.7_Missense_Mutation_p.D1179N|SSFA2_ENST00000409001.1_Missense_Mutation_p.D1157N|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000409136.1_Missense_Mutation_p.D688N|SSFA2_ENST00000428267.2_Missense_Mutation_p.D1004N NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 1179 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) TGAGGAAGTTGATGCAGCTGA 0.493000 5 94 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68211501 68211501 + Missense_Mutation SNP T T C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr8:68211501T>C ENST00000262215.3 - 4 791 c.402A>G c.(400-402)atA>atG p.I134M NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 134 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) AGCAGCCACATATTGTTTCAA 0.338000 8 15 0 0 1 0 0 CLEC5A 23601 broad.mit.edu 37 7 141645174 141645174 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:141645174C>T ENST00000546910.1 - 3 302 c.106G>A c.(106-108)Gat>Aat p.D36N CLEC5A_ENST00000551012.2_Missense_Mutation_p.D36N|CLEC5A_ENST00000438351.1_Missense_Mutation_p.D36N|CLEC5A_ENST00000439991.1_5'UTR|CLEC5A_ENST00000470595.1_Intron NM_013252.2 NP_037384.1 Q9NY25 CLC5A_HUMAN C-type lectin domain family 5, member A 36 anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) GTGAAACCATCGTTACTTTTG 0.438000 27 54 0 0 1 0 0 HNRNPK 3190 broad.mit.edu 37 9 86592650 86592650 + Missense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:86592650C>A ENST00000376263.3 - 4 333 c.110G>T c.(109-111)aGa>aTa p.R37I HNRNPK_ENST00000351839.3_Missense_Mutation_p.R37I|HNRNPK_ENST00000376264.2_Missense_Mutation_p.R37I|HNRNPK_ENST00000360384.5_Missense_Mutation_p.R37I|HNRNPK_ENST00000376281.4_Missense_Mutation_p.R37I NM_031263.2 NP_112553.1 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 37 Interaction with ASFV p30.|Necessary for interaction with DDX1. interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1) 19 ATCAGTGTTTCTAGATCTTTT 0.353000 4 64 1.23904e-05 1.29023e-05 1 1 0 PCDHA12 56137 broad.mit.edu 37 5 140256924 140256924 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:140256924C>T ENST00000398631.2 + 1 1867 c.1867C>T c.(1867-1869)Cac>Tac p.H623Y PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018903.2|NM_031864.2 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCCCGTTCCACGTGGGGCT 0.667000 4 55 0 0 1 0 0 SNX7 51375 broad.mit.edu 37 1 99161250 99161250 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:99161250G>C ENST00000370189.5 + 6 988 c.624G>C c.(622-624)caG>caC p.Q208H SNX7_ENST00000306121.3_Missense_Mutation_p.Q272H|SNX7_ENST00000529992.1_Missense_Mutation_p.Q217H Q9UNH6 SNX7_HUMAN sorting nexin 7 208 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 13 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) AAATATCTCAGAGAATTTATA 0.313000 6 93 0 0 1 0 0 FAM178A 55719 broad.mit.edu 37 10 102689105 102689105 + Missense_Mutation SNP G G T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:102689105G>T ENST00000238961.4 + 7 2616 c.2074G>T c.(2074-2076)Gac>Tac p.D692Y FAM178A_ENST00000370269.3_Missense_Mutation_p.D692Y NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A ACTACAAGAAGACATAAGGCA 0.363000 16 10 1.5739e-10 1.67714e-10 1 1 0 OR2M7 391196 broad.mit.edu 37 1 248487813 248487813 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:248487813G>C ENST00000317965.2 - 1 86 c.58C>G c.(58-60)Cat>Gat p.H20D NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTGGGGCTATGATTGAAGATT 0.478000 13 278 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1906969 1906969 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:1906969C>G ENST00000399161.2 - 14 2662 c.1915G>C c.(1915-1917)Gag>Cag p.E639Q MYT1L_ENST00000428368.2_Missense_Mutation_p.E637Q NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 639 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GAATATTTCTCGAGCTCCTTG 0.498000 8 81 0 0 1 0 0 LRWD1 222229 broad.mit.edu 37 7 102106340 102106340 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:102106340G>A ENST00000292616.5 + 2 309 c.157G>A c.(157-159)Gac>Aac p.D53N NM_152892.1 NP_690852.1 Q9UFC0 LRWD1_HUMAN leucine-rich repeats and WD repeat domain containing 1 53 chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin chromatin binding|methyl-CpG binding|methylated histone residue binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2) 20 GCAGGAGCTTGACCTGTCTAA 0.622000 24 42 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43044650 43044650 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:43044650C>T ENST00000267890.6 - 14 2902 c.2794G>A c.(2794-2796)Gat>Aat p.D932N NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 932 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) CTAACCATATCCTTCCGGGTT 0.428000 34 79 0 0 1 0 0 GDPD3 79153 broad.mit.edu 37 16 30123690 30123690 + Missense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:30123690C>A ENST00000406256.3 - 5 797 c.420G>T c.(418-420)caG>caT p.Q140H NM_024307.2 NP_077283.2 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain containing 3 140 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6) 11 TTGGAAACCTCTGGAACAGGT 0.622000 OREG0023731 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 88 1.58986e-06 1.6579e-06 1 1 0 ALDH1L1 10840 broad.mit.edu 37 3 125828793 125828793 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:125828793G>A ENST00000393434.2 - 20 2690 c.2341C>T c.(2341-2343)Cgg>Tgg p.R781W ALDH1L1_ENST00000472186.1_Missense_Mutation_p.R781W|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.R680W|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.R791W NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 781 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) TCACCTGGCCGAGGGACCTGA 0.597000 11 30 0 0 1 0 0 IGLV2-33 28811 broad.mit.edu 37 22 22930867 22930867 + RNA SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr22:22930867C>T ENST00000390302.2 + 0 120 TGGGCCCAATCTGCCCTGACT 0.567000 40 156 0 0 1 0 0 PTCH1 5727 broad.mit.edu 37 9 98241349 98241349 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:98241349G>A ENST00000430669.2 - 8 1535 c.950C>T c.(949-951)tCa>tTa p.S317L PTCH1_ENST00000437951.1_Missense_Mutation_p.S317L|PTCH1_ENST00000429896.2_Missense_Mutation_p.S232L|PTCH1_ENST00000375274.2_Missense_Mutation_p.S382L|PTCH1_ENST00000421141.1_Missense_Mutation_p.S232L|PTCH1_ENST00000331920.6_Missense_Mutation_p.S383L|PTCH1_ENST00000418258.1_Missense_Mutation_p.S232L Q13635 PTC1_HUMAN patched 1 383 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) GTTGATGTGTGAGACATACTC 0.552000 26 34 0 0 1 0 0 TNPO3 23534 broad.mit.edu 37 7 128610354 128610354 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:128610354C>T ENST00000393245.1 - 20 2921 c.2548G>A c.(2548-2550)Gaa>Aaa p.E850K TNPO3_ENST00000471234.1_Missense_Mutation_p.E752K|TNPO3_ENST00000482320.1_Missense_Mutation_p.E750K|TNPO3_ENST00000471166.1_Missense_Mutation_p.E850K|TNPO3_ENST00000265388.5_Missense_Mutation_p.E816K NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 816 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 TTCCGTAATTCAAAGTCTTCT 0.458000 34 183 0 0 1 0 0 MAVS 57506 broad.mit.edu 37 20 3838392 3838392 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr20:3838392G>A ENST00000428216.2 + 3 356 c.228G>A c.(226-228)ctG>ctA p.L76L MAVS_ENST00000416600.2_Intron|MAVS_ENST00000358134.6_Silent_p.L76L NM_020746.4 NP_065797.2 Q7Z434 MAVS_HUMAN mitochondrial antiviral signaling protein 76 CARD.|Required for interaction with NLRX1. activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 TTGCGGCACTGAGGGGCTGTG 0.637000 13 112 0 0 1 0 0 BMX 660 broad.mit.edu 37 X 15540529 15540529 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chrX:15540529C>T ENST00000357607.2 + 7 759 c.571C>T c.(571-573)Cta>Tta p.L191L BMX_ENST00000348343.6_Silent_p.L191L|BMX_ENST00000342014.6_Silent_p.L191L P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 191 cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) AAGTACCACTCTAGCCCAATA 0.428000 82 24 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114276668 114276668 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:114276668G>A ENST00000357077.4 + 38 6947 c.6894G>A c.(6892-6894)gaG>gaA p.E2298E ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.E2265E|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2265 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CAGTCACTGAGGACTCAGAGA 0.488000 11 30 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296564 145296564 + Silent SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:145296564C>G ENST00000342960.5 + 3 521 c.486C>G c.(484-486)ctC>ctG p.L162L NBPF10_ENST00000369339.3_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 162 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TCCAAAAGCTCAGCCCAGGTA 0.572000 13 228 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8424198 8424198 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:8424198C>G ENST00000360416.3 - 19 2409 c.2271G>C c.(2269-2271)caG>caC p.Q757H MYH10_ENST00000379980.4_Missense_Mutation_p.Q742H|MYH10_ENST00000396239.1_Missense_Mutation_p.Q747H|MYH10_ENST00000269243.4_Missense_Mutation_p.Q726H NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 726 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 AGCAATACCTCTGTCTGAATT 0.398000 5 43 0 0 1 0 0 PCNXL3 399909 broad.mit.edu 37 11 65393495 65393495 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:65393495C>T ENST00000355703.3 + 20 3888 c.3349C>T c.(3349-3351)Ccg>Tcg p.P1117S NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 1117 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 CGTGCTGAAGCCGCTGGAGTA 0.647000 OREG0021084 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 13 0 0 1 0 0 INTS2 57508 broad.mit.edu 37 17 59949655 59949655 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:59949655C>T ENST00000444766.3 - 20 2848 c.2773G>A c.(2773-2775)Gaa>Aaa p.E925K INTS2_ENST00000251334.6_Missense_Mutation_p.E917K NM_020748.2 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 925 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 TTTTTCAATTCTTCCCTGGTA 0.388000 14 28 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41906305 41906305 + Nonsense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr8:41906305G>C ENST00000396930.3 - 3 734 c.191C>G c.(190-192)tCa>tGa p.S64* KAT6A_ENST00000485568.1_Nonsense_Mutation_p.S64*|KAT6A_ENST00000406337.1_Nonsense_Mutation_p.S64*|KAT6A_ENST00000265713.2_Nonsense_Mutation_p.S64* NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 64 Required for activation of RUNX1-1.|Required for nuclear localization. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding TCCTTTATTTGAGACTTTTAA 0.368000 28 206 0 0 1 0 0 NCLN 56926 broad.mit.edu 37 19 3186161 3186161 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:3186161G>C ENST00000246117.4 + 1 564 c.133G>C c.(133-135)Gag>Cag p.E45Q NCLN_ENST00000590671.1_Intron NM_020170.3 NP_064555.2 Q969V3 NCLN_HUMAN nicalin 45 proteolysis|regulation of signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus peptidase activity|protein binding kidney(1)|lung(3)|skin(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18) CGCCGCGCACGAGTTCACCGT 0.721000 7 8 0 0 1 0 0 POLH 5429 broad.mit.edu 37 6 43555211 43555211 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:43555211G>C ENST00000372236.4 + 4 770 c.475G>C c.(475-477)Gag>Cag p.E159Q POLH_ENST00000372226.1_Missense_Mutation_p.E159Q|POLH_ENST00000535400.1_Missense_Mutation_p.E97Q NM_006502.2 NP_006493.1 Q9Y253 POLH_HUMAN polymerase (DNA directed), eta 159 UmuC. DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C cytoplasm|nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) AACGGCAGAAGAGACTGTTCA 0.473000 DNA polymerases (catalytic subunits) Xeroderma Pigmentosum 5 61 0 0 1 0 0 UBE3C 9690 broad.mit.edu 37 7 157023793 157023793 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:157023793G>A ENST00000348165.5 + 18 2613 c.2253G>A c.(2251-2253)cgG>cgA p.R751R NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 751 HECT. protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) TGAAAAAGCGGATCCGTGTGC 0.428000 6 114 0 0 1 0 0 COG4 25839 broad.mit.edu 37 16 70548332 70548332 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:70548332C>G ENST00000323786.5 - 4 471 c.450G>C c.(448-450)ttG>ttC p.L150F COG4_ENST00000564653.1_Missense_Mutation_p.L150F|COG4_ENST00000393612.4_Missense_Mutation_p.L146F NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 146 Interacts with STX5. Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) CTTCACTCCTCAAAGCAGTCT 0.502000 3 35 0 0 1 0 0 NCSTN 23385 broad.mit.edu 37 1 160319451 160319451 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:160319451G>A ENST00000368063.1 + 5 647 c.367G>A c.(367-369)Gat>Aat p.D123N NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000294785.5_Missense_Mutation_p.D143N|NCSTN_ENST00000535857.1_Missense_Mutation_p.D143N|NCSTN_ENST00000392212.4_Missense_Mutation_p.D123N Q92542 NICA_HUMAN nicastrin 143 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2) 34 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GTGCCCAAATGATGGGTTTGG 0.507000 18 25 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41377728 41377728 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:41377728C>T ENST00000361937.3 - 7 1136 c.712G>A c.(712-714)Gaa>Aaa p.E238K INO80_ENST00000401393.3_Missense_Mutation_p.E238K Q9ULG1 INO80_HUMAN INO80 complex subunit 238 Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GGGGATTCTTCAGAGGAAAGT 0.438000 5 95 0 0 1 0 0 POGK 57645 broad.mit.edu 37 1 166810266 166810266 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:166810266G>A ENST00000367875.1 + 2 433 c.73G>A c.(73-75)Gaa>Aaa p.E25K POGK_ENST00000536514.1_5'UTR|POGK_ENST00000367876.4_Missense_Mutation_p.E25K|POGK_ENST00000537173.1_5'UTR Q9P215 POGK_HUMAN pogo transposable element with KRAB domain 25 multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 22 TCAGAGCCGGGAACTAGAGGA 0.517000 45 88 0 0 1 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433764 72433764 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chrX:72433764C>G ENST00000373517.3 - 1 920 c.565G>C c.(565-567)Gag>Cag p.E189Q NAP1L2_ENST00000536638.1_Missense_Mutation_p.E47Q NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 189 Glu-rich (acidic). nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) ATACCCTCCTCATTACCATAC 0.418000 5 81 0 0 1 0 0 IGHV3-23 28442 broad.mit.edu 37 14 106725385 106725385 + RNA SNP A A T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:106725385A>T ENST00000390609.2 - 0 245 AGCCTGGCGGACCCAGCTCAT 0.597000 75 265 0 0 1 0 0 PCM1 5108 broad.mit.edu 37 8 17813070 17813070 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr8:17813070C>T ENST00000325083.8 + 10 1819 c.1380C>T c.(1378-1380)agC>agT p.S460S PCM1_ENST00000518537.1_Silent_p.S499S|PCM1_ENST00000519253.1_Silent_p.S460S|PCM1_ENST00000524226.1_Silent_p.S460S NM_006197.3 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 460 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) AATCCAATAGCCTCACATCAT 0.458000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 7 23 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69045056 69045056 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:69045056C>T ENST00000295381.3 + 8 1349 c.930C>T c.(928-930)gaC>gaT p.D310D ARHGAP25_ENST00000497079.1_Silent_p.D304D|ARHGAP25_ENST00000409202.3_Silent_p.D311D|ARHGAP25_ENST00000409220.1_Silent_p.D304D|ARHGAP25_ENST00000409030.3_Silent_p.D303D|ARHGAP25_ENST00000479844.1_Silent_p.D4D|ARHGAP25_ENST00000467265.1_Silent_p.D271D NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 310 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 TGAGTGTGGACAACCTGGCTA 0.488000 27 37 0 0 1 0 0 SLC24A2 25769 broad.mit.edu 37 9 19619665 19619665 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:19619665C>T ENST00000341998.2 - 3 1056 c.995G>A c.(994-996)gGa>gAa p.G332E SLC24A2_ENST00000286344.3_Missense_Mutation_p.G332E NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 332 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) GGCAGAGCTTCCACCTCGCTG 0.488000 8 103 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139908491 139908491 + Splice_Site SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:139908491C>T ENST00000265662.5 - 28 4388 c.e28-1 ABCA2_ENST00000341511.6_Splice_Site|ABCA2_ENST00000371605.3_Splice_Site Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GCCTCCACCTCTGTGCAGAGA 0.682000 7 17 0 0 1 0 0 MARCH7 64844 broad.mit.edu 37 2 160609027 160609027 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:160609027G>C ENST00000259050.4 + 6 1850 c.1728G>C c.(1726-1728)ttG>ttC p.L576F MARCH7_ENST00000409591.1_Missense_Mutation_p.L538F|MARCH7_ENST00000409175.1_Missense_Mutation_p.L576F|MARCH7_ENST00000539065.1_Missense_Mutation_p.L520F NM_001282805.1|NM_001282807.1|NM_022826.2 NP_001269734.1|NP_001269736.1|NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 CAGGAAGTTTGCAGTATGTCC 0.383000 48 121 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 101163293 101163293 + Nonstop_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:101163293C>G ENST00000522650.1 - 13 2540 c.2196G>C c.(2194-2196)taG>taC p.*732Y ASCC3_ENST00000369162.2_Intron NM_001284271.1 NP_001271200.1 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 0 Helicase C-terminal 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TAAGCACTCTCTAAAAGCAGA 0.299000 7 31 0 0 1 0 0 CYP2A6 1548 broad.mit.edu 37 19 41355876 41355876 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:41355876G>A ENST00000301141.5 - 2 210 c.190C>T c.(190-192)Cgc>Tgc p.R64C CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 64 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) GGGCCATAGCGCTCACTGATC 0.617000 4 39 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19745863 19745863 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:19745863C>T ENST00000203556.4 - 16 1857 c.1720G>A c.(1720-1722)Gag>Aag p.E574K GMIP_ENST00000445806.2_Missense_Mutation_p.E545K|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000587238.1_Missense_Mutation_p.E548K NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 574 Rho-GAP. negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 TGTTCTATCTCAGCCGTGCAC 0.597000 17 92 0 0 1 0 0 RP11-337C18.8 0 broad.mit.edu 37 1 146650694 146650694 + RNA SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:146650694G>A ENST00000607149.1 + 0 350 RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA CTAAAGGAGAGAAGTTTGTCA 0.463000 17 112 0 0 1 0 0 PSMA1 5682 broad.mit.edu 37 11 14529258 14529258 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:14529258C>T ENST00000530457.1 - 9 1134 c.604G>A c.(604-606)Gat>Aat p.D202N PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000396393.1_Missense_Mutation_p.D227N|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000418988.2_Missense_Mutation_p.D233N|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000396394.2_Missense_Mutation_p.D227N P25786 PSA1_HUMAN proteasome (prosome, macropain) subunit, alpha type, 1 227 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex protein binding|RNA binding|threonine-type endopeptidase activity large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 3 GACACATCATCATCATCATAG 0.353000 26 21 0 0 1 0 0 EIF4E 1977 broad.mit.edu 37 4 99802262 99802262 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:99802262G>C ENST00000450253.2 - 7 2095 c.571C>G c.(571-573)Cca>Gca p.P191A EIF4E_ENST00000505992.1_Missense_Mutation_p.P222A|EIF4E_ENST00000280892.6_Missense_Mutation_p.P211A|EIF4E_ENST00000504432.1_Missense_Mutation_p.P219A NM_001968.3 NP_001959.1 P06730 IF4E_HUMAN eukaryotic translation initiation factor 4E 191 G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex protein binding|RNA cap binding|translation initiation factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227) ACTATCTTTGGAGGAAGTCCT 0.363000 9 37 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2047456 2047456 + Missense_Mutation SNP G G T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:2047456G>T ENST00000382203.1 + 5 1227 c.1018G>T c.(1018-1020)Gtg>Ttg p.V340L SMARCA2_ENST00000357248.2_Missense_Mutation_p.V340L|SMARCA2_ENST00000382194.1_Missense_Mutation_p.V340L|SMARCA2_ENST00000349721.2_Missense_Mutation_p.V340L P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 340 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CCTGGACCCCGTGGAAATTCT 0.692000 4 8 0.014758 0.0149213 1 1 0 SRRM2 23524 broad.mit.edu 37 16 2817596 2817596 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:2817596G>A ENST00000301740.8 + 11 7616 c.7067G>A c.(7066-7068)aGa>aAa p.R2356K SRRM2_ENST00000574593.1_3'UTR NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2356 Ala-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GCCGGCTCCAGAACCGCCGCA 0.627000 18 155 0 0 1 0 0 CPLX1 10815 broad.mit.edu 37 4 780459 780459 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:780459C>T ENST00000304062.6 - 4 466 c.235G>A c.(235-237)Gag>Aag p.E79K CPLX1_ENST00000505203.1_Missense_Mutation_p.E58K NM_006651.3 NP_006642.1 O14810 CPLX1_HUMAN complexin 1 79 glutamate secretion cytosol kidney(1)|lung(2) 3 Colorectal(103;0.187) GCCTCGGCCTCGCGCTCCTCC 0.756000 13 13 0 0 1 0 0 ALDH5A1 7915 broad.mit.edu 37 6 24528378 24528378 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:24528378C>T ENST00000357578.3 + 8 1472 c.1327C>T c.(1327-1329)Ctg>Ttg p.L443L ALDH5A1_ENST00000348925.2_Silent_p.L456L|ALDH5A1_ENST00000491546.1_Silent_p.L415L|ALDH5A1_ENST00000546278.1_Silent_p.L355L NM_001080.3 NP_001071.1 P51649 SSDH_HUMAN aldehyde dehydrogenase 5 family, member A1 443 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1) 20 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) TTTCGGGCCTCTGGCACCAGT 0.488000 22 29 0 0 1 0 0 USP4 7375 broad.mit.edu 37 3 49331930 49331930 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:49331930G>A ENST00000351842.4 - 13 1660 c.1652C>T c.(1651-1653)tCa>tTa p.S551L USP4_ENST00000265560.4_Missense_Mutation_p.S598L NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 598 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) ATATAGCGCTGATGCGGAGGA 0.527000 8 80 0 0 1 0 0 PABPN1 8106 broad.mit.edu 37 14 23792641 23792641 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:23792641C>T ENST00000397276.2 + 4 603 c.590C>T c.(589-591)tCa>tTa p.S197L PABPN1_ENST00000216727.4_Missense_Mutation_p.S197L|PABPN1_ENST00000557702.1_Missense_Mutation_p.S69L|PABPN1_ENST00000556821.1_Missense_Mutation_p.S69L|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.S224L|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.S224L poly(A) binding protein, nuclear 1 large_intestine(1)|lung(1)|ovary(2) 4 all_cancers(95;6.69e-06) GBM - Glioblastoma multiforme(265;0.00643) GGCTGTGGTTCAGTCAACCGT 0.428000 9 78 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149129350 149129350 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:149129350C>T ENST00000247930.4 - 6 2336 c.2013G>A c.(2011-2013)aaG>aaA p.K671K NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 671 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GGCGGAAGCTCTTCTTGCACT 0.622000 30 133 0 0 1 0 0 SLC27A3 11000 broad.mit.edu 37 1 153748380 153748380 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:153748380G>A ENST00000271857.2 + 1 1551 c.791G>A c.(790-792)gGa>gAa p.G264E SLC27A3_ENST00000368661.3_Missense_Mutation_p.G183E|SLC27A3_ENST00000484014.1_Intron Q5K4L6 S27A3_HUMAN solute carrier family 27 (fatty acid transporter), member 3 183 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCAGCGCCGGGAGCCGGAGAT 0.741000 5 15 0 0 1 0 0 IPP 3652 broad.mit.edu 37 1 46182672 46182672 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:46182672C>T ENST00000396478.3 - 7 1306 c.1204G>A c.(1204-1206)Gag>Aag p.E402K NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 402 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TTCCCTATCTCAGCTCCAACC 0.373000 11 98 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90420473 90420473 + Silent SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:90420473G>C ENST00000369393.3 - 50 7807 c.7692C>G c.(7690-7692)ctC>ctG p.L2564L MDN1_ENST00000428876.1_Silent_p.L2564L Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 2564 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AAAAATTCCTGAGAGATGCAG 0.398000 15 33 0 0 1 0 0 KLF5 688 broad.mit.edu 37 13 73649905 73649905 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr13:73649905G>A ENST00000377687.4 + 4 1791 c.1255G>A c.(1255-1257)Gag>Aag p.E419K KLF5_ENST00000539231.1_Missense_Mutation_p.E328K NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 419 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding p.E419Q(2) breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) GCGATCGGATGAGCTGACCCG 0.592000 7 54 0 0 1 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101572646 101572646 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:101572646G>C ENST00000326172.5 + 5 1391 c.1276G>C c.(1276-1278)Gaa>Caa p.E426Q NFKBIZ_ENST00000394054.2_Missense_Mutation_p.E326Q|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.E304Q NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 426 Interaction with NFKB1/p50 (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 GGAGCAGGAAGAAAGCAAATT 0.403000 34 46 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62194088 62194088 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr20:62194088G>A ENST00000467148.1 - 8 6156 c.6087C>T c.(6085-6087)ctC>ctT p.L2029L HELZ2_ENST00000427522.2_Silent_p.L1460L NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator GGCCAGGGCCGAGGCTGCTGG 0.697000 5 6 0 0 1 0 0 GP5 2814 broad.mit.edu 37 3 194117344 194117344 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:194117344C>T ENST00000401815.1 - 1 1739 c.1668G>A c.(1666-1668)gaG>gaA p.E556E GP5_ENST00000323007.3_Silent_p.E556E P40197 GPV_HUMAN glycoprotein V (platelet) 556 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) CAAGGGCTCTCTCTCTGATTA 0.443000 38 186 0 0 1 0 0 ZNF276 92822 broad.mit.edu 37 16 89800436 89800436 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:89800436C>T ENST00000289816.5 + 9 1551 c.1239C>T c.(1237-1239)ctC>ctT p.L413L ZNF276_ENST00000446326.2_Silent_p.L274L|ZNF276_ENST00000443381.2_Silent_p.L488L|ZNF276_ENST00000568064.1_Silent_p.L396L NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 488 P -> Q (in Ref. 3; AAQ15128/AAQ15129). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) ACGTGAAGCTCATCCACACAG 0.637000 10 19 0 0 1 0 0 CDCP2 200008 broad.mit.edu 37 1 54606823 54606823 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:54606823G>C ENST00000371330.1 - 3 1558 c.711C>G c.(709-711)ttC>ttG p.F237L NM_201546.2 NP_963840.2 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 237 CUB 2. extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 AGTCGGACTTGAAGACCACCT 0.647000 8 48 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25473926 25473926 + RNA SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:25473926G>C ENST00000453082.2 + 0 1238 NR_003343.1 TGTCCCTCCAGATGGTAAGCC 0.547000 8 17 0 0 1 0 0 PSG1 5669 broad.mit.edu 37 19 43382132 43382132 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:43382132G>A ENST00000244296.2 - 2 500 c.363C>T c.(361-363)acC>acT p.T121T PSG1_ENST00000436291.2_Silent_p.T121T|PSG1_ENST00000595356.1_Silent_p.T121T|PSG1_ENST00000312439.6_Silent_p.T121T|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000403380.3_Silent_p.T121T|PSG1_ENST00000595124.1_Silent_p.T121T NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) TGATGTGTAAGGTGTAGGATC 0.478000 31 280 0 0 1 0 0 KRT78 196374 broad.mit.edu 37 12 53242451 53242451 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr12:53242451G>A ENST00000304620.4 - 1 327 c.264C>T c.(262-264)atC>atT p.I88I NM_173352.2 NP_775487.2 Q8N1N4 K2C78_HUMAN keratin 78 88 Head. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 GATTCTGGTTGATGGTCACTT 0.622000 11 29 0 0 1 0 0 CLASP1 23332 broad.mit.edu 37 2 122122825 122122825 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:122122825G>A ENST00000263710.4 - 36 4311 c.3922C>T c.(3922-3924)Ctg>Ttg p.L1308L CLASP1_ENST00000541859.1_Silent_p.L1025L|CLASP1_ENST00000455322.2_Silent_p.L1264L|CLASP1_ENST00000545861.1_Silent_p.L1015L|CLASP1_ENST00000397587.3_Silent_p.L1248L|CLASP1_ENST00000541377.1_Silent_p.L1247L|CLASP1_ENST00000409078.3_Silent_p.L1241L NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 1308 Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores. axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) AGCTCTTTCAGAAGGTCAGCC 0.572000 3 21 0 0 1 0 0 VGF 7425 broad.mit.edu 37 7 100806828 100806828 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:100806828C>T ENST00000249330.2 - 2 1536 c.1297G>A c.(1297-1299)Gag>Aag p.E433K VGF_ENST00000445482.2_Missense_Mutation_p.E433K NM_003378.3 NP_003369.2 O15240 VGF_HUMAN VGF nerve growth factor inducible 433 Asp/Glu-rich (acidic). response to cAMP extracellular space|transport vesicle growth factor activity cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 9 Lung NSC(181;0.168)|all_lung(186;0.215) tctgtcccctcggcctccttc 0.687000 3 15 0 0 1 0 0 STX17 55014 broad.mit.edu 37 9 102729973 102729973 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:102729973C>T ENST00000259400.6 + 7 757 c.621C>T c.(619-621)gtC>gtT p.V207V STX17_ENST00000525640.1_Silent_p.V207V|STX17_ENST00000525847.1_3'UTR|STX17_ENST00000534052.1_Silent_p.V207V NM_017919.2 NP_060389.2 P56962 STX17_HUMAN syntaxin 17 207 t-SNARE coiled-coil homology. intracellular protein transport|vesicle-mediated transport endoplasmic reticulum|integral to membrane|nucleolus SNAP receptor activity endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) CAGACCATGTCAACAGTGCTG 0.493000 35 46 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57188486 57188486 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:57188486G>A ENST00000331162.4 - 5 906 c.636C>T c.(634-636)tcC>tcT p.S212S NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TGCATTTGTAGGACTTCTCCC 0.333000 11 19 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100210735 100210735 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:100210735G>A ENST00000409236.2 - 13 1500 c.1388C>T c.(1387-1389)tCt>tTt p.S463F AFF3_ENST00000409579.1_Missense_Mutation_p.S488F|AFF3_ENST00000317233.4_Missense_Mutation_p.S463F|AFF3_ENST00000356421.2_Missense_Mutation_p.S488F P51826 AFF3_HUMAN AF4/FMR2 family, member 3 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 CCACTTGTTAGAGGATGCCGG 0.443000 32 214 0 0 1 0 0 PTGDS 5730 broad.mit.edu 37 9 139873474 139873474 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:139873474C>T ENST00000224167.2 + 2 219 c.144C>T c.(142-144)ctC>ctT p.L48L PTGDS_ENST00000460340.1_3'UTR|PTGDS_ENST00000371625.3_Silent_p.L48L P41222 PTGDS_HUMAN prostaglandin D2 synthase 21kDa (brain) 48 prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1) 7 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GCGCGGGCCTCGCCTCCAACT 0.711000 4 31 0 0 1 0 0 DEF8 54849 broad.mit.edu 37 16 90016035 90016035 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:90016035G>A ENST00000268676.7 + 2 251 c.162G>A c.(160-162)acG>acA p.T54T DEF8_ENST00000563795.1_Intron|DEF8_ENST00000418391.2_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000563594.1_Intron|DEF8_ENST00000569453.1_Intron|DEF8_ENST00000567874.1_Intron NM_207514.2 NP_997397.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) 54 intracellular signal transduction zinc ion binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) CGGGCAGGACGCGGGAGGCCA 0.677000 4 19 0 0 1 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8222159 8222159 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:8222159C>T ENST00000361926.3 + 12 2074 c.1964C>T c.(1963-1965)tCg>tTg p.S655L ARHGEF15_ENST00000421050.1_Missense_Mutation_p.S655L|ARHGEF15_ENST00000582060.1_3'UTR NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 655 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CTCTTTGCCTCGCGCCCCCGC 0.642000 33 293 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120263009 120263009 + Missense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr12:120263009C>A ENST00000392521.2 - 8 972 c.917G>T c.(916-918)gGa>gTa p.G306V CIT_ENST00000261833.7_Missense_Mutation_p.G306V NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 306 Protein kinase. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) GGCAGAGGTTCCCTCTGCGAA 0.458000 4 73 0.00024832 0.000254589 1 1 0 COMMD9 29099 broad.mit.edu 37 11 36302292 36302292 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:36302292G>A ENST00000263401.5 - 2 163 c.147C>T c.(145-147)agC>agT p.S49S COMMD9_ENST00000532705.1_Silent_p.S49S|COMMD9_ENST00000452374.2_Intron NM_014186.3 NP_054905.2 Q9P000 COMD9_HUMAN COMM domain containing 9 49 kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 5 all_lung(20;0.211) all_hematologic(20;0.107) TCACAGACAAGCTGGAACATG 0.468000 6 68 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20903661 20903661 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr12:20903661C>T ENST00000381552.1 + 14 2219 c.1851C>T c.(1849-1851)ctC>ctT p.L617L SLCO1C1_ENST00000540354.1_Silent_p.L568L|SLCO1C1_ENST00000266509.2_Silent_p.L617L|SLCO1C1_ENST00000545102.1_Silent_p.L499L|SLCO1C1_ENST00000545604.1_Silent_p.L617L Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 617 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CTTCATGCCTCAAATGGGGAT 0.363000 17 70 0 0 1 0 0 SP100 6672 broad.mit.edu 37 2 231327168 231327168 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:231327168C>G ENST00000264052.5 + 10 1347 c.992C>G c.(991-993)tCt>tGt p.S331C SP100_ENST00000409897.1_Missense_Mutation_p.S296C|SP100_ENST00000409112.1_Missense_Mutation_p.S331C|SP100_ENST00000409341.1_Missense_Mutation_p.S331C|SP100_ENST00000427101.2_Missense_Mutation_p.S306C|SP100_ENST00000409824.1_Missense_Mutation_p.S306C|SP100_ENST00000340126.4_Missense_Mutation_p.S331C|SP100_ENST00000341950.4_Missense_Mutation_p.S331C NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 331 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGTGAGGACTCTGAAGGATCC 0.502000 21 23 0 0 1 0 0 DENND4C 55667 broad.mit.edu 37 9 19324380 19324380 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:19324380C>T ENST00000380432.2 + 9 1153 c.1120C>T c.(1120-1122)Cgt>Tgt p.R374C DENND4C_ENST00000602925.1_Missense_Mutation_p.R610C|DENND4C_ENST00000434457.2_Missense_Mutation_p.R610C Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 374 dDENN. integral to membrane breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 AAGTCGAGATCGTGCCTATGC 0.279000 29 71 0 0 1 0 0 CDC45 8318 broad.mit.edu 37 22 19470241 19470241 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr22:19470241G>C ENST00000407835.1 + 5 489 c.233G>C c.(232-234)gGa>gCa p.G78A CDC45_ENST00000263201.1_Missense_Mutation_p.G78A|CDC45_ENST00000437685.2_Missense_Mutation_p.G78A|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000404724.3_Intron O75419 CDC45_HUMAN cell division cycle 45 78 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 ATAAACTGTGGAGCTAATGTA 0.373000 8 132 0 0 1 0 0 ATP5J 522 broad.mit.edu 37 21 27101968 27101968 + Missense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr21:27101968C>A ENST00000400093.3 - 2 829 c.138G>T c.(136-138)aaG>aaT p.K46N ATP5J_ENST00000400090.3_Missense_Mutation_p.K46N|ATP5J_ENST00000400094.1_Missense_Mutation_p.K46N|ATP5J_ENST00000284971.3_Missense_Mutation_p.K46N|ATP5J_ENST00000400087.3_Missense_Mutation_p.K46N|ATP5J_ENST00000457143.2_Missense_Mutation_p.K54N|ATP5J_ENST00000400099.1_Missense_Mutation_p.K46N NM_001003701.1|NM_001003703.1|NM_001685.4 NP_001003701.1|NP_001003703.1|NP_001676.2 P18859 ATP5J_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 46 ATP catabolic process|respiratory electron transport chain hydrogen ion transmembrane transporter activity cervix(1)|endometrium(1)|lung(1)|pancreas(1) 4 ATTCTCTAATCTTGTCCACAA 0.348000 4 25 0.00024832 0.000254589 1 1 0 TRIM25 7706 broad.mit.edu 37 17 54991173 54991173 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:54991173C>T ENST00000316881.4 - 1 226 c.177G>A c.(175-177)gcG>gcA p.A59A TRIM25_ENST00000537230.1_Silent_p.A59A NM_005082.4 NP_005073.2 Q14258 TRI25_HUMAN tripartite motif containing 25 59 innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(9;6.15e-08) GCTGCGGTCGCGCCTGGTAGA 0.692000 3 7 0 0 1 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42144735 42144735 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr20:42144735G>C ENST00000444063.1 + 4 642 c.510G>C c.(508-510)gaG>gaC p.E170D L3MBTL1_ENST00000427442.2_Missense_Mutation_p.E238D|L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.E238D|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.E170D|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.E170D Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 170 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 TTCTACAGGAGAAGCAAGAAG 0.577000 6 33 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126542614 126542614 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:126542614G>A ENST00000339582.2 - 6 1946 c.1138C>T c.(1138-1140)Cat>Tat p.H380Y GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.H380Y|GRM8_ENST00000444921.2_Missense_Mutation_p.H380Y|GRM8_ENST00000358373.3_Missense_Mutation_p.H380Y O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 380 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) TTCTTTATATGACTGTTCCTT 0.353000 HNSCC(24;0.065) 6 64 0 0 1 0 0 DPY30 84661 broad.mit.edu 37 2 32264363 32264363 + Silent SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:32264363G>C ENST00000342166.5 - 3 184 c.69C>G c.(67-69)ctC>ctG p.L23L DPY30_ENST00000295066.3_Silent_p.L23L Q9C005 DPY30_HUMAN dpy-30 homolog (C. elegans) 23 endosome transport|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Set1C/COMPASS complex|trans-Golgi network protein homodimerization activity large_intestine(2) 2 Acute lymphoblastic leukemia(172;0.155) CGTTGTCTGTGAGACCGTACT 0.493000 16 112 0 0 1 0 0 NCSTN 23385 broad.mit.edu 37 1 160318836 160318836 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:160318836G>A ENST00000368063.1 + 4 458 c.178G>A c.(178-180)Gag>Aag p.E60K NCSTN_ENST00000294785.5_Missense_Mutation_p.E80K|NCSTN_ENST00000535857.1_Missense_Mutation_p.E80K|NCSTN_ENST00000392212.4_Missense_Mutation_p.E60K Q92542 NICA_HUMAN nicastrin 80 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2) 34 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGAGAAAGAGGAGGACCTACA 0.463000 22 68 0 0 1 0 0 SAMD4A 23034 broad.mit.edu 37 14 55169071 55169071 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:55169071G>A ENST00000251091.5 + 2 793 c.488G>A c.(487-489)cGa>cAa p.R163Q SAMD4A_ENST00000357634.3_Missense_Mutation_p.R162Q|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000554335.1_Missense_Mutation_p.R163Q|SAMD4A_ENST00000392067.3_Missense_Mutation_p.R163Q NM_001161576.2 NP_001155048.2 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4A 163 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 GGCCAGAACCGAGGCCGCTCA 0.512000 27 61 0 0 1 0 0 WDR64 128025 broad.mit.edu 37 1 241951319 241951319 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:241951319G>A ENST00000366552.2 + 23 3051 c.2844G>A c.(2842-2844)ctG>ctA p.L948L WDR64_ENST00000437684.2_Silent_p.L781L NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 948 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) AATATCCTCTGATATTTGACC 0.358000 27 58 0 0 1 0 0 BTNL8 79908 broad.mit.edu 37 5 180326337 180326337 + Silent SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:180326337G>C ENST00000231229.4 + 1 261 c.27G>C c.(25-27)ctG>ctC p.L9L BTNL8_ENST00000340184.4_Silent_p.L9L|BTNL8_ENST00000508408.1_Silent_p.L9L|BTNL8_ENST00000511704.1_Silent_p.L9L|BTNL8_ENST00000400707.3_5'UTR NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 9 integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTTTGGTTCTGAGTCTCCTCA 0.453000 40 180 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57188487 57188487 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:57188487G>A ENST00000331162.4 - 5 905 c.635C>T c.(634-636)tCc>tTc p.S212F NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) GCATTTGTAGGACTTCTCCCT 0.333000 11 18 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87165842 87165842 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:87165842C>T ENST00000265724.3 - 21 2830 c.2413G>A c.(2413-2415)Gat>Aat p.D805N ABCB1_ENST00000543898.1_Missense_Mutation_p.D741N NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 805 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity p.D805N(1) NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTAGGGTCATCAAACCAACTC 0.458000 6 56 0 0 1 0 0 CD2AP 23607 broad.mit.edu 37 6 47512409 47512409 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:47512409G>A ENST00000359314.5 + 4 843 c.387G>A c.(385-387)ctG>ctA p.L129L NM_012120.2 NP_036252.1 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 129 Interaction with ANLN and localization to the midbody.|SH3 2. cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) AACTGGAGCTGAAAGTGGGAG 0.303000 5 103 0 0 1 0 0 CRYGN 155051 broad.mit.edu 37 7 151135092 151135092 + Missense_Mutation SNP G G T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:151135092G>T ENST00000337323.2 - 2 386 c.260C>A c.(259-261)cCt>cAt p.P87H CRYGN_ENST00000491928.1_Missense_Mutation_p.P87H|CRYGN_ENST00000476631.1_5'UTR|RP4-555L14.4_ENST00000465549.1_RNA NM_144727.1 NP_653328.1 Q8WXF5 CRGN_HUMAN crystallin, gamma N 87 Beta/gamma crystallin 'Greek key' 2. central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4) 8 OV - Ovarian serous cystadenocarcinoma(82;0.00358) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CATTCCTACAGGCCGACAGGA 0.642000 16 52 3.45872e-05 3.58119e-05 1 1 0 ERBB4 2066 broad.mit.edu 37 2 212288890 212288890 + Silent SNP G G A rs114556844 by1000genomes TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:212288890G>A ENST00000342788.4 - 23 3166 c.2856C>T c.(2854-2856)gtC>gtT p.V952V ERBB4_ENST00000402597.1_Silent_p.V942V|ERBB4_ENST00000436443.1_Silent_p.V952V NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 952 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ATTTGACCATGACCATGTAAA 0.378000 TSP Lung(8;0.080) 5 108 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40852632 40852632 + Nonsense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:40852632C>T ENST00000254691.5 + 3 1397 c.1198C>T c.(1198-1200)Cag>Tag p.Q400* CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 400 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 AAACATGTATCAGTGCCAGTT 0.453000 23 47 0 0 1 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869392 22869392 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr22:22869392G>A ENST00000302097.3 - 2 815 c.563C>T c.(562-564)cCa>cTa p.P188L NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) AGGTACCCCTGGGATTCCATC 0.448000 13 141 0 0 1 0 0 RDM1 201299 broad.mit.edu 37 17 34251717 34251717 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:34251717C>T ENST00000394529.3 - 3 876 c.390G>A c.(388-390)ccG>ccA p.P130P RDM1_ENST00000425909.3_Intron|RDM1_ENST00000293273.6_Silent_p.P153P|RDM1_ENST00000419453.2_Silent_p.P130P|RDM1_ENST00000394527.1_Intron|RDM1_ENST00000431884.2_Silent_p.P153P|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000430160.2_Silent_p.P130P|RDM1_ENST00000394528.3_Silent_p.P153P NM_001163130.1 NP_001156602.1 Q8NG50 RDM1_HUMAN RAD52 motif 1 153 Necessary for nuclear and nucleolar localization. DNA recombination|DNA repair Cajal body|cytoplasm|nucleolus|PML body DNA binding|nucleotide binding|RNA binding breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1) 9 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GGCTTTGCTTCGGAAGTGGCA 0.468000 Other identified genes with known or suspected DNA repair function 32 82 0 0 1 0 0 MYLK2 85366 broad.mit.edu 37 20 30409372 30409372 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr20:30409372G>A ENST00000375994.2 + 3 877 c.604G>A c.(604-606)Gag>Aag p.E202K MYLK2_ENST00000375985.4_Missense_Mutation_p.E202K Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 202 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CATCCTGGCAGAGAGCCAGAA 0.597000 26 63 0 0 1 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90577477 90577477 + RNA SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:90577477G>C ENST00000551025.1 + 0 5905 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) GGATGCATCTGAGCAAGATAT 0.408000 34 52 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142569636 142569636 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:142569636C>T ENST00000359396.3 - 15 2247 c.2002G>A c.(2002-2004)Gag>Aag p.E668K NM_018646.3 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 668 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) CAGCCCAGCTCTAGTTTTTCC 0.582000 17 57 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61926588 61926588 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:61926588C>T ENST00000280772.2 - 22 2736 c.2545G>A c.(2545-2547)Gat>Aat p.D849N ANK3_ENST00000460468.1_Missense_Mutation_p.D16N|ANK3_ENST00000503366.1_Missense_Mutation_p.D832N|ANK3_ENST00000373827.2_Missense_Mutation_p.D843N NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ATACCTTCATCATCAGACATA 0.333000 24 60 0 0 1 0 0 ZDHHC3 51304 broad.mit.edu 37 3 45000761 45000761 + Silent SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:45000761G>C ENST00000296127.3 - 2 441 c.168C>G c.(166-168)ctC>ctG p.L56L ZDHHC3_ENST00000424952.2_Silent_p.L56L|ZDHHC3_ENST00000342790.4_Silent_p.L56L NM_016598.2 NP_057682.1 Q9NYG2 ZDHC3_HUMAN zinc finger, DHHC-type containing 3 56 Golgi membrane|integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665) ACTCCGCATAGAGGACCAGAA 0.537000 9 100 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103207108 103207108 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:103207108C>T ENST00000428762.1 - 32 4846 c.4687G>A c.(4687-4689)Gac>Aac p.D1563N RELN_ENST00000424685.2_Missense_Mutation_p.D1563N|RELN_ENST00000343529.5_Missense_Mutation_p.D1563N NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1563 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TGTGGCAGGTCAATGGAAATG 0.478000 33 73 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105406884 105406884 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:105406884C>T ENST00000333244.5 - 7 15023 c.14904G>A c.(14902-14904)aaG>aaA p.K4968K AHNAK2_ENST00000557457.1_5'UTR NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4968 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTGTTTCCTTCTTCGGGGACC 0.532000 13 23 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881142 228881142 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:228881142C>T ENST00000392056.3 - 7 4474 c.4428G>A c.(4426-4428)gtG>gtA p.V1476V SPHKAP_ENST00000344657.5_Silent_p.V1476V NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1476 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) GACAAGCGCTCACGGCTGTGT 0.463000 23 107 0 0 1 0 0 TRIM59 286827 broad.mit.edu 37 3 160156793 160156793 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:160156793C>T ENST00000543469.1 - 2 393 c.179G>A c.(178-180)aGa>aAa p.R60K TRIM59_ENST00000309784.4_Missense_Mutation_p.R60K|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R60K Q8IWR1 TRI59_HUMAN tripartite motif containing 59 60 integral to membrane|intracellular zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3) 15 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) AGTAATACTTCTGCAATTAGG 0.358000 20 89 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216272903 216272903 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:216272903C>T ENST00000354785.4 - 17 2815 c.2446G>A c.(2446-2448)Gac>Aac p.D816N FN1_ENST00000443816.1_Missense_Mutation_p.D816N|FN1_ENST00000446046.1_Missense_Mutation_p.D816N|FN1_ENST00000356005.4_Missense_Mutation_p.D816N|FN1_ENST00000346544.3_Missense_Mutation_p.D816N|FN1_ENST00000432072.2_Missense_Mutation_p.D816N|FN1_ENST00000359671.1_Missense_Mutation_p.D816N|FN1_ENST00000345488.5_Missense_Mutation_p.D816N|FN1_ENST00000357009.2_Missense_Mutation_p.D816N|FN1_ENST00000357867.4_Missense_Mutation_p.D816N|FN1_ENST00000336916.4_Missense_Mutation_p.D816N|FN1_ENST00000421182.1_Missense_Mutation_p.D816N|FN1_ENST00000323926.6_Missense_Mutation_p.D816N P02751 FINC_HUMAN fibronectin 1 816 Fibronectin type-III 3. 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) ACAGTCGTGTCAGGAGGGGCA 0.502000 5 80 0 0 1 0 0 C12orf55 144535 broad.mit.edu 37 12 97157932 97157932 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr12:97157932C>T ENST00000524981.4 + 59 8067 c.8044C>T c.(8044-8046)Cct>Tct p.P2682S chromosome 12 open reading frame 55 TTTTTAGCCTCCTCTCAGAAG 0.343000 6 23 0 0 1 0 0 TOP3A 7156 broad.mit.edu 37 17 18188586 18188586 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:18188586C>T ENST00000321105.5 - 15 1961 c.1747G>A c.(1747-1749)Gac>Aac p.D583N TOP3A_ENST00000540524.1_Missense_Mutation_p.D113N|TOP3A_ENST00000542570.1_Missense_Mutation_p.D488N NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 583 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 GCCCGGAGGTCAGGCTTAGAC 0.517000 17 61 0 0 1 0 0 TMEM87B 84910 broad.mit.edu 37 2 112858208 112858208 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:112858208C>T ENST00000283206.4 + 15 1755 c.1386C>T c.(1384-1386)ttC>ttT p.F462F TMEM87B_ENST00000463427.1_3'UTR NM_032824.2 NP_116213.1 Q96K49 TM87B_HUMAN transmembrane protein 87B 462 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1) 19 GATATGCCTTCATGCCCTTAA 0.274000 7 68 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47406995 47406995 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:47406995G>A ENST00000310638.4 - 1 142 c.111C>T c.(109-111)ctC>ctT p.L37L CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371904.4_Silent_p.L37L|CYP4A11_ENST00000462347.1_Silent_p.L37L|CYP4A11_ENST00000371905.1_Silent_p.L37L NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 37 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) TGTGCAGGTAGAGCTGAACTG 0.602000 7 130 0 0 1 0 0 CRAT 1384 broad.mit.edu 37 9 131860309 131860309 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:131860309C>T ENST00000318080.2 - 11 1741 c.1447G>A c.(1447-1449)Gat>Aat p.D483N RP11-247A12.1_ENST00000434250.1_RNA NM_000755.3|NM_001257363.1 NP_000746|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 483 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) CTGGAGTCATCCATGGCCTTG 0.597000 9 129 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29221167 29221167 + Splice_Site SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:29221167G>C ENST00000321990.4 + 21 5674 c.5296G>C c.(5296-5298)Gac>Cac p.D1766H NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1766 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AGCTAATTTAGAGTAAGTCTT 0.294000 4 31 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202703015 202703015 + Splice_Site SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:202703015C>G ENST00000367265.3 - 23 4588 c.e23-1 KDM5B_ENST00000367264.2_Splice_Site NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 GAGTTGCCATCTGAAAAAGAG 0.493000 20 143 0 0 1 0 0 ZNF587 84914 broad.mit.edu 37 19 58370965 58370965 + Silent SNP C C T rs146642070 TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:58370965C>T ENST00000339656.5 + 3 1367 c.1185C>T c.(1183-1185)ctC>ctT p.L395L ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_Silent_p.L352L|ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Silent_p.L394L|ZNF814_ENST00000595295.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) AGGGCAACCTCGTTCACCATC 0.468000 103 129 0 0 1 0 0 HNRNPU 3192 broad.mit.edu 37 1 245019785 245019785 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:245019785G>C ENST00000444376.2 - 10 2063 c.1829C>G c.(1828-1830)cCa>cGa p.P610R HNRNPU_ENST00000283179.9_Missense_Mutation_p.P629R NM_004501.3|NM_031844.2 NP_004492.2|NP_114032.2 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 629 CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) CGCATGTTCTGGTAGGTCTTT 0.378000 20 137 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41007694 41007694 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chrX:41007694G>A ENST00000324545.8 + 12 2125 c.1492G>A c.(1492-1494)Gat>Aat p.D498N USP9X_ENST00000378308.2_Missense_Mutation_p.D498N NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TGCAGAAGATGATAAAGATGG 0.433000 6 84 0 0 1 0 0 CNST 163882 broad.mit.edu 37 1 246810440 246810440 + Splice_Site SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:246810440G>A ENST00000366513.4 + 9 1206 c.e9-1 CNST_ENST00000483271.1_Splice_Site|CNST_ENST00000366512.3_Splice_Site NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 TTCATCTTTAGAGAGTAAAAC 0.383000 OREG0014367 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 75 0 0 1 0 0 JARID2 3720 broad.mit.edu 37 6 15468887 15468887 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:15468887C>T ENST00000341776.2 + 5 852 c.608C>T c.(607-609)tCa>tTa p.S203L JARID2_ENST00000541660.1_Missense_Mutation_p.S165L|JARID2_ENST00000397311.3_Missense_Mutation_p.S31L NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 203 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) AACAATGCTTCATCTTCATGC 0.468000 16 51 0 0 1 0 0 EPHX4 253152 broad.mit.edu 37 1 92528691 92528691 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:92528691G>A ENST00000370383.4 + 7 1035 c.937G>A c.(937-939)Gag>Aag p.E313K NM_173567.4 NP_775838.3 Q8IUS5 EPHX4_HUMAN epoxide hydrolase 4 313 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(3)|lung(8) 12 CATGGAGGTTGAGATGGCTGA 0.418000 52 81 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3887485 3887485 + Missense_Mutation SNP C C T rs145675446 by1000genomes TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:3887485C>T ENST00000319331.3 + 2 1921 c.1160C>T c.(1159-1161)aCc>aTc p.T387I SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 387 LRRCT. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) TCCAACAAAACCAACATCCGC 0.493000 42 56 0 0 1 0 0 GABRG3 2567 broad.mit.edu 37 15 27725975 27725975 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:27725975G>C ENST00000555083.1 + 6 897 c.754G>C c.(754-756)Gag>Cag p.E252Q GABRG3_ENST00000333743.6_Intron NM_001270873.1 NP_001257802.1 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 0 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) AAAAGCCAGAGAGGCCTAAGG 0.413000 4 11 0 0 1 0 0 GAD1 2571 broad.mit.edu 37 2 171678617 171678617 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:171678617G>A ENST00000358196.3 + 3 653 c.103G>A c.(103-105)Gtg>Atg p.V35M GAD1_ENST00000344257.5_Missense_Mutation_p.V35M|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.V35M NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 35 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CTGGTGCGGCGTGGCCCATGG 0.627000 4 12 0 0 1 0 0 TGOLN2 10618 broad.mit.edu 37 2 85554310 85554310 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:85554310G>A ENST00000377386.3 - 2 1007 c.545C>T c.(544-546)tCg>tTg p.S182L TGOLN2_ENST00000444342.2_Missense_Mutation_p.S182L|TGOLN2_ENST00000409232.3_Missense_Mutation_p.S182L|TGOLN2_ENST00000282120.2_Missense_Mutation_p.S84L|TGOLN2_ENST00000409015.1_Missense_Mutation_p.S182L|TGOLN2_ENST00000398263.2_Missense_Mutation_p.S182L O43493 TGON2_HUMAN trans-golgi network protein 2 182 14 X 14 AA tandem repeats. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding GTCCGCACCCGACTTATTAGG 0.592000 217 378 0 0 1 0 0 GDPD3 79153 broad.mit.edu 37 16 30123730 30123730 + Missense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:30123730C>A ENST00000406256.3 - 5 757 c.380G>T c.(379-381)gGg>gTg p.G127V NM_024307.2 NP_077283.2 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain containing 3 127 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6) 11 CCGGTCTGACCCGTGAGCAAA 0.602000 OREG0023731 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 93 1.33987e-11 1.44248e-11 1 1 0 GRTP1 79774 broad.mit.edu 37 13 114009747 114009747 + Translation_Start_Site SNP G G T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr13:114009747G>T ENST00000326039.3 - 0 4 GRTP1-AS1_ENST00000423246.1_RNA|GRTP1-AS1_ENST00000419199.1_RNA|GRTP1_ENST00000375431.4_Silent_p.V77V|GRTP1_ENST00000375430.4_Silent_p.V77V Q5TC63 GRTP1_HUMAN growth hormone regulated TBC protein 1 intracellular Rab GTPase activator activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 14 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) GCACCATCCAGACGCGGGCAC 0.662000 21 27 4.96729e-08 5.22459e-08 1 1 0 FANCD2 2177 broad.mit.edu 37 3 10084780 10084780 + Missense_Mutation SNP T T G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:10084780T>G ENST00000287647.3 + 12 1028 c.935T>G c.(934-936)tTg>tGg p.L312W FANCD2_ENST00000419585.1_Missense_Mutation_p.L312W|FANCD2_ENST00000383806.1_Missense_Mutation_p.L312W|FANCD2_ENST00000383807.1_Missense_Mutation_p.L312W NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 312 Interaction with BRCA2. DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) CATTGTGTTTTGCCATCACGG 0.428000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 21 63 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43430668 43430668 + RNA SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:43430668C>T ENST00000406070.2 - 0 1006 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) GGTCCTGTTTCATTTCTCGTG 0.498000 49 276 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130290033 130290033 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:130290033G>A ENST00000358511.6 + 6 2804 c.2773G>A c.(2773-2775)Gat>Aat p.D925N COL6A6_ENST00000453409.2_Missense_Mutation_p.D925N NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 925 Nonhelical region.|VWFA 5. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GGAATCCCATGATGCTGATAA 0.567000 13 65 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3672032 3672032 + Missense_Mutation SNP G G A rs139820400 TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:3672032G>A ENST00000294600.2 + 3 538 c.454G>A c.(454-456)Gag>Aag p.E152K NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 152 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) TTCACCCACTGAGGCCGATTT 0.552000 121 235 0 0 1 0 0 KIF20B 9585 broad.mit.edu 37 10 91469117 91469117 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:91469117C>T ENST00000416354.1 + 4 322 c.250C>T c.(250-252)Ctg>Ttg p.L84L KIF20B_ENST00000260753.4_Silent_p.L84L|KIF20B_ENST00000371728.3_Silent_p.L84L|KIF20B_ENST00000394289.2_Silent_p.L84L Q96Q89 KI20B_HUMAN kinesin family member 20B 84 Kinesin-motor. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 TGTGCATATTCTGGATTCACA 0.348000 61 44 0 0 1 0 0 TMCC1 23023 broad.mit.edu 37 3 129546893 129546893 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:129546893C>T ENST00000393238.3 - 3 669 c.329G>A c.(328-330)cGa>cAa p.R110Q TMCC1_ENST00000426664.2_5'UTR NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 110 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GGGTGGCACTCGAATCTGCTG 0.552000 31 67 0 0 1 0 0 CINP 51550 broad.mit.edu 37 14 102822155 102822155 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:102822155C>T ENST00000216756.6 - 3 296 c.256G>A c.(256-258)Gag>Aag p.E86K CINP_ENST00000541568.2_Missense_Mutation_p.E86K|CINP_ENST00000536961.2_Missense_Mutation_p.E101K NM_032630.2 NP_116019.1 Q9BW66 CINP_HUMAN cyclin-dependent kinase 2 interacting protein 86 cell cycle|cell division|DNA repair|DNA replication nucleus protein binding large_intestine(2)|lung(2) 4 TCCAGTTCCTCGTTATATTCC 0.443000 16 74 0 0 1 0 0 ACTRT2 140625 broad.mit.edu 37 1 2939198 2939198 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:2939198C>T ENST00000378404.2 + 1 1153 c.948C>T c.(946-948)ctC>ctT p.L316L NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 316 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) ACCGGCTTCTCAAGGAGCTGG 0.602000 5 109 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 26029159 26029159 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:26029159G>A ENST00000435504.4 - 4 484 c.191C>T c.(190-192)tCc>tTc p.S64F ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.S36F Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 64 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCACCTCTGGAGTTTGTGTG 0.388000 4 32 0 0 1 0 0 TIGD4 201798 broad.mit.edu 37 4 153691920 153691920 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:153691920C>T ENST00000304337.2 - 2 1057 c.237G>A c.(235-237)ctG>ctA p.L79L NM_145720.3 NP_663772.1 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 79 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) AAGCAGTTCTCAGTCTTTTTC 0.338000 44 102 0 0 1 0 0 SLC6A1 6529 broad.mit.edu 37 3 11067485 11067485 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:11067485C>T ENST00000287766.4 + 9 1297 c.876C>T c.(874-876)atC>atT p.I292I SLC6A1_ENST00000536032.1_Silent_p.I114I NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 292 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 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) CAACCCAGATCTTCTTCTCAT 0.517000 8 136 0 0 1 0 0 PANK2 80025 broad.mit.edu 37 20 3869936 3869936 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr20:3869936G>A ENST00000316562.4 + 1 195 c.189G>A c.(187-189)ccG>ccA p.P63P PANK2_ENST00000497424.1_Intron NM_153638.2 NP_705902.2 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 63 cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TTAGGGAGCCGACTGGACGCG 0.692000 3 5 0 0 1 0 0 CSNK1G2 1455 broad.mit.edu 37 19 1969891 1969891 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:1969891G>A ENST00000255641.8 + 2 615 c.120G>A c.(118-120)ctG>ctA p.L40L NM_001319.6 NP_001310.3 P78368 KC1G2_HUMAN casein kinase 1, gamma 2 40 sphingolipid metabolic process|Wnt receptor signaling pathway cytosol ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGGGGTCCTGATGGTGGGCC 0.706000 8 4 0 0 1 0 0 HTR3E 285242 broad.mit.edu 37 3 183824447 183824447 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:183824447C>G ENST00000415389.2 + 9 1803 c.1337C>G c.(1336-1338)tCt>tGt p.S446C HTR3E_ENST00000440596.2_Missense_Mutation_p.S472C|HTR3E_ENST00000425359.2_Missense_Mutation_p.S431C|HTR3E_ENST00000436361.2_Missense_Mutation_p.S446C|HTR3E_ENST00000335304.2_Missense_Mutation_p.S461C NM_001256613.1|NM_198313.2 NP_001243542.1|NP_938055.1 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 446 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) ATGGCCTCCTCTATCATCACC 0.592000 32 83 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76892492 76892492 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:76892492C>T ENST00000409709.3 + 23 3033 c.2761C>T c.(2761-2763)Cgg>Tgg p.R921W MYO7A_ENST00000409893.1_Missense_Mutation_p.R921W|MYO7A_ENST00000458637.2_Missense_Mutation_p.R921W|MYO7A_ENST00000409619.2_Missense_Mutation_p.R910W NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 921 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 GGCCGCTCGGCGGAAGAAGGA 0.617000 6 10 0 0 1 0 0 CHMP2A 27243 broad.mit.edu 37 19 59063429 59063429 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:59063429C>T ENST00000600118.1 - 3 897 c.472G>A c.(472-474)Gag>Aag p.E158K CHMP2A_ENST00000312547.2_Missense_Mutation_p.E158K|CHMP2A_ENST00000601220.1_Missense_Mutation_p.E158K O43633 CHM2A_HUMAN charged multivesicular body protein 2A 158 Interaction with VPS4B. cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein domain specific binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 7 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) TACCTCTCCTCTTCATCTTCC 0.512000 12 204 0 0 1 0 0 LRP8 7804 broad.mit.edu 37 1 53755276 53755276 + Translation_Start_Site SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:53755276C>T ENST00000465675.1 - 0 347 LRP8_ENST00000354412.3_Silent_p.E110E|LRP8_ENST00000371454.2_Silent_p.E110E|LRP8_ENST00000306052.6_Silent_p.E110E|RP4-784A16.2_ENST00000421637.1_RNA|LRP8_ENST00000347547.2_Silent_p.E110E Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 CATCAGGACACTCCTCCTCGC 0.592000 5 14 0 0 1 0 0 PAXBP1 94104 broad.mit.edu 37 21 34134491 34134491 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr21:34134491C>T ENST00000331923.4 - 4 976 c.787G>A c.(787-789)Gat>Aat p.D263N PAXBP1_ENST00000290178.4_Missense_Mutation_p.D263N|PAXBP1_ENST00000472588.1_5'UTR NM_016631.3 NP_057715.2 PAX3 and PAX7 binding protein 1 TCTTCATCATCACTGGCATCA 0.403000 8 105 0 0 1 0 0 COG5 10466 broad.mit.edu 37 7 106924162 106924162 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:106924162C>G ENST00000393603.2 - 13 1693 c.1422G>C c.(1420-1422)ttG>ttC p.L474F COG5_ENST00000297135.3_Missense_Mutation_p.L474F|COG5_ENST00000347053.3_Missense_Mutation_p.L474F NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 474 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 GTGAGTCTTTCAAAGCCTTTT 0.368000 20 104 0 0 1 0 0 ESF1 51575 broad.mit.edu 37 20 13695543 13695543 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr20:13695543C>T ENST00000202816.1 - 14 2641 c.2534G>A c.(2533-2535)aGa>aAa p.R845K NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 845 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 TTGCTTTTTTCTTGCTTGAAA 0.308000 4 57 0 0 1 0 0 CCDC63 160762 broad.mit.edu 37 12 111318975 111318975 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr12:111318975C>G ENST00000308208.5 + 7 970 c.728C>G c.(727-729)tCt>tGt p.S243C CCDC63_ENST00000545036.1_Missense_Mutation_p.S203C|CCDC63_ENST00000552694.1_Missense_Mutation_p.S164C|CCDC63_ENST00000550317.1_3'UTR NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 243 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 AAGGACACCTCTCAGTACAAC 0.552000 3 36 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 147733647 147733647 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chrX:147733647G>A ENST00000370460.2 + 2 654 c.175G>A c.(175-177)Gaa>Aaa p.E59K AFF2_ENST00000342251.3_Intron|AFF2_ENST00000370457.5_Intron|AFF2_ENST00000370458.1_Intron NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 59 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CAAGGTAGCTGAATATGTATG 0.358000 5 81 0 0 1 0 0 ZNF202 7753 broad.mit.edu 37 11 123597577 123597577 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:123597577C>T ENST00000336139.4 - 8 1437 c.1075G>A c.(1075-1077)Gag>Aag p.E359K ZNF202_ENST00000529691.1_Missense_Mutation_p.E359K|ZNF202_ENST00000530393.1_Missense_Mutation_p.E359K O95125 ZN202_HUMAN zinc finger protein 202 359 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) GGATTGTCCTCAAAGACTATT 0.433000 79 134 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16180768 16180768 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:16180768C>T ENST00000399408.2 + 18 2555 c.2380C>T c.(2380-2382)Ccc>Tcc p.P794S ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000399410.3_Missense_Mutation_p.P794S|ABCC1_ENST00000346370.5_Intron|ABCC1_ENST00000345148.5_Missense_Mutation_p.P794S|ABCC1_ENST00000351154.5_Missense_Mutation_p.P735S P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 794 ABC transporter 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CTTCGATGATCCCCTCTCAGC 0.592000 8 75 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64395311 64395311 + Missense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:64395311C>A ENST00000262043.3 + 4 2028 c.1688C>A c.(1687-1689)tCt>tAt p.S563Y PHF3_ENST00000393387.1_Missense_Mutation_p.S563Y|PHF3_ENST00000509330.1_Missense_Mutation_p.S563Y Q92576 PHF3_HUMAN PHD finger protein 3 563 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AGTTGCAATTCTGGGGTTAAA 0.343000 26 39 8.24728e-16 8.97138e-16 1 1 0 ZNF585B 92285 broad.mit.edu 37 19 37676275 37676275 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:37676275C>T ENST00000532828.2 - 5 2415 c.2164G>A c.(2164-2166)Gag>Aag p.E722K ZNF585B_ENST00000312908.5_Missense_Mutation_p.E310K|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.E667K|CTC-454I21.3_ENST00000585860.2_Intron NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 722 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTCCCACACTCAGCACACACG 0.463000 18 121 0 0 1 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43515225 43515225 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:43515225C>T ENST00000430334.3 - 12 3303 c.3170G>A c.(3169-3171)tGa>tAa p.*1057* PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Silent_p.*968* NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 0 intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) AGATGGGCATCAGGCGAAAAT 0.627000 5 42 0 0 1 0 0 SPTY2D1 144108 broad.mit.edu 37 11 18636604 18636604 + Nonsense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:18636604G>C ENST00000336349.5 - 3 1452 c.1217C>G c.(1216-1218)tCa>tGa p.S406* NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 406 Ser-rich. breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 CTCAGGTCCTGAGCTGGAGCT 0.592000 11 70 0 0 1 0 0 PPFIA1 8500 broad.mit.edu 37 11 70200458 70200458 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:70200458G>A ENST00000253925.7 + 17 2430 c.2215G>A c.(2215-2217)Gaa>Aaa p.E739K AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.E739K NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 739 cell-matrix adhesion cytoplasm protein binding|signal transducer activity p.E739K(1) breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) CATAAAGTGTGAAACCTCCCC 0.532000 5 50 0 0 1 0 0 TRIM16 10626 broad.mit.edu 37 17 15532172 15532172 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:15532172C>T ENST00000578237.1 - 11 2307 c.1452G>A c.(1450-1452)gaG>gaA p.E484E TRIM16_ENST00000416464.2_Silent_p.E354E|TRIM16_ENST00000579219.1_3'UTR|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000577886.1_Silent_p.E268E|TRIM16_ENST00000336708.7_Silent_p.E484E tripartite motif containing 16 breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 19 UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559) TGAGTGGGGTCTCCATGTCAC 0.552000 21 80 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144889748 144889748 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr8:144889748C>G ENST00000356994.2 - 16 2158 c.2152G>C c.(2152-2154)Gag>Cag p.E718Q SCRIB_ENST00000320476.3_Missense_Mutation_p.E718Q|SCRIB_ENST00000377533.3_Missense_Mutation_p.E637Q NM_182706.4 NP_874365 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 718 Interaction with ARHGEF7.|Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CGAGCAGGCTCTATCAGCAGG 0.617000 7 84 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136582453 136582453 + Missense_Mutation SNP C C T rs141900019 TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:136582453C>T ENST00000531224.1 - 12 2959 c.2707G>A c.(2707-2709)Gag>Aag p.E903K BCLAF1_ENST00000392348.2_Missense_Mutation_p.E852K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E901K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E852K|BCLAF1_ENST00000031135.9_Missense_Mutation_p.E121K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E854K|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E730K NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 903 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) TCCATGGTCTCTTCTTCATCT 0.373000 15 291 0 0 1 0 0 PDLIM3 27295 broad.mit.edu 37 4 186423477 186423477 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:186423477C>T ENST00000284770.5 - 8 1139 c.1066G>A c.(1066-1068)Gac>Aac p.D356N PDLIM3_ENST00000284771.6_Missense_Mutation_p.D308N|PDLIM3_ENST00000284767.5_3'UTR NM_014476.5 NP_055291.2 Q53GG5 PDLI3_HUMAN PDZ and LIM domain 3 356 sarcomere zinc ion binding breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) GTGACCGTGTCATAGCCCTCT 0.557000 45 86 0 0 1 0 0 ACCS 84680 broad.mit.edu 37 11 44098828 44098828 + Splice_Site SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:44098828G>A ENST00000263776.8 + 7 990 c.e7-1 ACCS_ENST00000432284.2_Splice_Site|ACCS_ENST00000533208.1_Intron NM_001127219.1|NM_032592.3 NP_001120691.1|NP_115981.1 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1) 35 CCTGCCCCCAGAGGCTTTCCT 0.577000 21 91 0 0 1 0 0 POMGNT2 84892 broad.mit.edu 37 3 43122498 43122498 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:43122498G>A ENST00000344697.2 - 2 771 c.426C>T c.(424-426)ttC>ttT p.F142F POMGNT2_ENST00000441964.1_Silent_p.F142F NM_032806.5 NP_116195.2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) GCTTGGGCATGAAGCGCAGGG 0.617000 11 95 0 0 1 0 0 GJA1 2697 broad.mit.edu 37 6 121768780 121768780 + Missense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:121768780C>A ENST00000282561.3 + 2 944 c.787C>A c.(787-789)Caa>Aaa p.Q263K NM_000165.3 NP_000156.1 P17302 CXA1_HUMAN gap junction protein, alpha 1, 43kDa 263 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) CTGTGGGTCTCAAAAATATGC 0.517000 21 87 4.96729e-08 5.22459e-08 1 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38652442 38652442 + RNA SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:38652442C>T ENST00000494540.1 + 0 432 NR_003086.1 TTCATATGTTCTCCACAGCTG 0.428000 22 12 0 0 1 0 0 PSIP1 11168 broad.mit.edu 37 9 15486887 15486887 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:15486887C>T ENST00000380733.4 - 5 674 c.331G>A c.(331-333)Gaa>Aaa p.E111K PSIP1_ENST00000380738.4_Missense_Mutation_p.E111K|PSIP1_ENST00000397519.2_Missense_Mutation_p.E111K|PSIP1_ENST00000380715.1_Missense_Mutation_p.E111K|PSIP1_ENST00000380716.4_Missense_Mutation_p.E111K O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 111 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1) 9 GBM - Glioblastoma multiforme(50;2.38e-06) TCCTTTTCTTCAACTTCAACA 0.318000 37 59 0 0 1 0 0 CNDP2 55748 broad.mit.edu 37 18 72186206 72186206 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr18:72186206G>C ENST00000324262.4 + 11 1549 c.1233G>C c.(1231-1233)ttG>ttC p.L411F CNDP2_ENST00000324301.8_Missense_Mutation_p.L327F|CNDP2_ENST00000579847.1_Missense_Mutation_p.L411F NM_018235.2 NP_060705.2 Q96KP4 CNDP2_HUMAN CNDP dipeptidase 2 (metallopeptidase M20 family) 411 cytoplasm carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3) 24 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) AGCCAGACTTGACCAGGGAAG 0.557000 36 32 0 0 1 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15580402 15580402 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:15580402G>A ENST00000292609.4 - 4 1811 c.1682C>T c.(1681-1683)tCc>tTc p.S561F PGLYRP2_ENST00000340880.4_Intron Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 0 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 TGTGTAGACGGAGGGGCGGCG 0.692000 3 1 0 0 1 0 0 DKK4 27121 broad.mit.edu 37 8 42232338 42232338 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr8:42232338G>A ENST00000220812.2 - 3 542 c.356C>T c.(355-357)cCa>cTa p.P119L NM_014420.2 NP_055235.1 Q9UBT3 DKK4_HUMAN dickkopf WNT signaling pathway inhibitor 4 119 multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular region NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024) TTCCTGGACTGGGTGCCCAGT 0.443000 71 222 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52520475 52520475 + Missense_Mutation SNP G G T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:52520475G>T ENST00000216286.5 - 5 1250 c.1251C>A c.(1249-1251)aaC>aaA p.N417K NID2_ENST00000541773.1_Missense_Mutation_p.N364K NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 417 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) GGATGCTTCCGTTTTCGGGGT 0.557000 26 83 1.5548e-18 1.69636e-18 1 1 0 MRM1 79922 broad.mit.edu 37 17 34964210 34964210 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:34964210C>T ENST00000250156.7 + 3 980 c.741C>T c.(739-741)ctC>ctT p.L247L MRM1_ENST00000585770.1_Silent_p.L52L NM_024864.3 NP_079140.2 Q6IN84 MRM1_HUMAN mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) 247 RNA processing mitochondrion RNA binding|RNA methyltransferase activity NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) TGGAGTTCCTCTGGGAACGGC 0.612000 15 87 0 0 1 0 0 ANXA11 311 broad.mit.edu 37 10 81932588 81932588 + Silent SNP T T C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:81932588T>C ENST00000438331.1 - 4 512 c.30A>G c.(28-30)ccA>ccG p.P10P ANXA11_ENST00000537102.1_5'UTR|ANXA11_ENST00000422982.3_Silent_p.P10P|ANXA11_ENST00000265447.4_Silent_p.P10P|ANXA11_ENST00000372231.3_Silent_p.P10P|ANXA11_ENST00000360615.4_Silent_p.P10P|ANXA11_ENST00000535999.1_Silent_p.P10P NM_145869.1 NP_665876.1 P50995 ANX11_HUMAN annexin A11 10 cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1) 17 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) GGTAGCCACCTGGGGGCGGGG 0.617000 27 61 0 0 1 0 0 XPO5 57510 broad.mit.edu 37 6 43521164 43521164 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:43521164C>T ENST00000265351.7 - 14 1728 c.1518G>A c.(1516-1518)atG>atA p.M506I XPO5_ENST00000424378.2_5'UTR NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 506 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) AAAAAAGAGTCATGGCTTCCC 0.403000 3 12 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77473256 77473256 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:77473256G>A ENST00000560626.2 - 4 1488 c.1013C>T c.(1012-1014)tCa>tTa p.S338L PEAK1_ENST00000312493.4_Missense_Mutation_p.S338L|PEAK1_ENST00000558305.1_Missense_Mutation_p.S338L Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 338 Ser-rich. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding GGAGTCAGATGACACCATGCT 0.418000 5 97 0 0 1 0 0 OC90 729330 broad.mit.edu 37 8 133053363 133053363 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr8:133053363C>G ENST00000262283.5 - 9 1072 c.973G>C c.(973-975)Gag>Cag p.E325Q OC90_ENST00000254627.3_Missense_Mutation_p.E129Q|OC90_ENST00000443356.2_Missense_Mutation_p.E129Q|OC90_ENST00000603859.1_Missense_Mutation_p.E129Q Q02509 OC90_HUMAN otoconin 90 129 Phospholipase A2-like 2. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) CAGTCCATCTCAGCGGCCTCC 0.587000 21 81 0 0 1 0 0 ATP11B 23200 broad.mit.edu 37 3 182577088 182577088 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:182577088G>A ENST00000323116.5 + 12 1401 c.1141G>A c.(1141-1143)Gaa>Aaa p.E381K NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 381 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) TCTGTATCATGAAGAATCAGA 0.328000 16 22 0 0 1 0 0 ZPBP2 124626 broad.mit.edu 37 17 38027018 38027018 + Nonsense_Mutation SNP G G T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:38027018G>T ENST00000377940.3 + 2 263 c.124G>T c.(124-126)Gaa>Taa p.E42* ZPBP2_ENST00000584588.1_Nonsense_Mutation_p.E64*|ZPBP2_ENST00000348931.4_Nonsense_Mutation_p.E64* NM_198844.2 NP_942141.2 Q6X784 ZPBP2_HUMAN zona pellucida binding protein 2 64 binding of sperm to zona pellucida extracellular region kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Colorectal(19;0.000442) Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171) TTCTAAAAAAGAAATAGTGGA 0.284000 5 58 3.59834e-05 3.71523e-05 1 1 0 MRGPRF 116535 broad.mit.edu 37 11 68773711 68773711 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:68773711C>T ENST00000309099.6 - 3 449 c.67G>A c.(67-69)Gag>Aag p.E23K MRGPRF_ENST00000441623.1_Missense_Mutation_p.E23K NM_145015.4 NP_659452.3 Q96AM1 MRGRF_HUMAN MAS-related GPR, member F 23 integral to membrane|plasma membrane G-protein coupled receptor activity p.E23*(1) endometrium(3)|lung(4) 7 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TCCGGGGCCTCGCTCAGGCCA 0.667000 16 36 0 0 1 0 0 EPRS 2058 broad.mit.edu 37 1 220208271 220208271 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:220208271C>T ENST00000366923.3 - 3 485 c.216G>A c.(214-216)ctG>ctA p.L72L NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 72 glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding p.L72L(1) breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TATGTTCCATCAGATTAGAGC 0.363000 45 71 0 0 1 0 0 CRTC2 200186 broad.mit.edu 37 1 153923847 153923847 + Silent SNP G G T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:153923847G>T ENST00000368633.1 - 11 1420 c.1293C>A c.(1291-1293)ccC>ccA p.P431P CRTC2_ENST00000368630.3_Silent_p.P111P NM_181715.2 NP_859066.1 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 431 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGGGGCTGAGGGGCACACGGC 0.632000 7 24 2.7689e-08 2.92495e-08 1 1 0 CHST12 55501 broad.mit.edu 37 7 2473142 2473142 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:2473142G>A ENST00000258711.6 + 2 1003 c.868G>A c.(868-870)Gag>Aag p.E290K NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 290 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) CTCGGCGCGCGAGGCCTTCCG 0.652000 11 99 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179421813 179421813 + Missense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:179421813C>A ENST00000589042.1 - 330 88292 c.88068G>T c.(88066-88068)tgG>tgT p.W29356C TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W26788C|TTN_ENST00000342175.6_Missense_Mutation_p.W20483C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W27715C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W20416C|TTN_ENST00000460472.2_Missense_Mutation_p.W20291C|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27715 Ig-like 134. 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) CTGGTTGTTGCCATGAAAGGC 0.443000 15 17 1.5739e-10 1.67714e-10 1 1 0 MTMR8 55613 broad.mit.edu 37 X 63488550 63488550 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chrX:63488550G>A ENST00000374852.3 - 14 2049 c.1982C>T c.(1981-1983)tCt>tTt p.S661F MTMR8_ENST00000453546.1_Intron NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 661 nuclear envelope protein tyrosine phosphatase activity p.0?(2) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 AGTGGCCTCAGAGATGTCCAT 0.567000 4 32 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144879302 144879302 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:144879302G>A ENST00000369359.4 - 30 4594 c.4556C>T c.(4555-4557)tCa>tTa p.S1519L PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1339L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1383L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1519L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1383L Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1383 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) ACTTGTAACTGAGAGGGACCG 0.502000 T PDGFRB MPD 58 220 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147869504 147869504 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:147869504G>C ENST00000361727.3 + 18 3460 c.2944G>C c.(2944-2946)Gag>Cag p.E982Q CNTNAP2_ENST00000538075.1_Missense_Mutation_p.E41Q NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 982 EGF-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CAAATGCCTAGAGAGATACCA 0.473000 HNSCC(39;0.1) 26 119 0 0 1 0 0 ODAM 54959 broad.mit.edu 37 4 71063726 71063726 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:71063726C>G ENST00000396094.2 + 4 275 c.227C>G c.(226-228)tCt>tGt p.S76C NM_017855.3 NP_060325.3 A1E959 ODAM_HUMAN odontogenic, ameloblast asssociated 76 Gln-rich. 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 TCCCAGTTCTCTTTATCAGCT 0.478000 40 144 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153593628 153593628 + Splice_Site SNP C C G rs112123120 TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chrX:153593628C>G ENST00000422373.1 - 11 1816 c.e11-1 FLNA_ENST00000360319.4_Splice_Site|FLNA_ENST00000344736.4_Splice_Site|FLNA_ENST00000369850.3_Splice_Site NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCCTCTCCCTCTGCCAAGACA 0.627000 4 74 0 0 1 0 0 TOR1AIP1 26092 broad.mit.edu 37 1 179887135 179887135 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:179887135G>C ENST00000606911.2 + 10 1704 c.1513G>C c.(1513-1515)Gat>Cat p.D505H TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.D506H|TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.D384H|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.D521H Q5JTV8 TOIP1_HUMAN torsin A interacting protein 1 integral to membrane|nuclear inner membrane breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 18 GGCCTTCAAAGATGTAGCCTT 0.428000 8 140 0 0 1 0 0 DNAAF1 123872 broad.mit.edu 37 16 84199455 84199455 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:84199455G>A ENST00000378553.5 + 7 1054 c.930G>A c.(928-930)gaG>gaA p.E310E DNAAF1_ENST00000334315.5_Silent_p.E310E|DNAAF1_ENST00000563818.1_3'UTR NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 310 axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 AGCAGTGGGAGAGCAGGGAGC 0.522000 9 91 0 0 1 0 0 SPATA31A7 26165 broad.mit.edu 37 9 65508179 65508179 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:65508179C>T ENST00000355045.2 - 2 232 c.204G>A c.(202-204)cgG>cgA p.R68R NM_015667.2 NP_056482.2 SPATA31 subfamily A, member 7 GCCTCCGCCTCCGCCCTACTG 0.527000 20 166 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13919382 13919382 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:13919382C>G ENST00000265104.4 - 7 982 c.878G>C c.(877-879)aGa>aCa p.R293T NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 293 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTTGGAGAGTCTTTTTTTCCA 0.517000 Kartagener syndrome 31 202 0 0 1 0 0 WFDC10A 140832 broad.mit.edu 37 20 44258532 44258532 + Missense_Mutation SNP A A T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr20:44258532A>T ENST00000372643.3 + 1 368 c.80A>T c.(79-81)aAg>aTg p.K27M WFDC9_ENST00000326000.1_Intron NM_080753.2 NP_542791.1 Q9H1F0 WF10A_HUMAN WAP four-disulfide core domain 10A 27 extracellular region serine-type endopeptidase inhibitor activity large_intestine(2) 2 Myeloproliferative disorder(115;0.0122) CGTGACAAGAAGAGGATGCAG 0.587000 OREG0025983 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 40 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97101052 97101052 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:97101052G>A ENST00000371247.2 - 28 2849 c.2660C>T c.(2659-2661)tCc>tTc p.S887F SORBS1_ENST00000371249.2_Missense_Mutation_p.S669F|SORBS1_ENST00000371246.2_Missense_Mutation_p.S909F|SORBS1_ENST00000371227.4_Missense_Mutation_p.S841F|SORBS1_ENST00000353505.5_Missense_Mutation_p.S738F|SORBS1_ENST00000393949.1_Missense_Mutation_p.S857F|SORBS1_ENST00000306402.6_Missense_Mutation_p.S634F|SORBS1_ENST00000277982.5_Missense_Mutation_p.S909F|SORBS1_ENST00000371241.1_Missense_Mutation_p.S537F|SORBS1_ENST00000607232.1_Missense_Mutation_p.S1147F|SORBS1_ENST00000361941.3_Missense_Mutation_p.S887F|SORBS1_ENST00000354106.3_Missense_Mutation_p.S857F|SORBS1_ENST00000347291.4_Missense_Mutation_p.S699F|SORBS1_ENST00000371239.1_Missense_Mutation_p.S664F|SORBS1_ENST00000371245.3_Missense_Mutation_p.S738F Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 887 SH3 2. focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) CTTTCTGAAGGACATTTCTAC 0.468000 6 98 0 0 1 0 0 CCDC171 203238 broad.mit.edu 37 9 15920318 15920318 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:15920318C>G ENST00000380701.3 + 25 3979 c.3651C>G c.(3649-3651)atC>atG p.I1217M CCDC171_ENST00000486641.2_3'UTR NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 1217 GCACTAGAATCATGACATTAG 0.338000 8 49 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72297244 72297244 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:72297244C>T ENST00000579490.1 + 7 1230 c.1095C>T c.(1093-1095)atC>atT p.I365I DNAI2_ENST00000311014.6_Silent_p.I308I|DNAI2_ENST00000446837.2_Silent_p.I308I|DNAI2_ENST00000307504.5_Silent_p.I165I|DNAI2_ENST00000582036.1_Silent_p.I308I Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 308 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TCTTGGACATCACCAAGAAGG 0.547000 Kartagener syndrome 61 78 0 0 1 0 0 LOC643201 643201 broad.mit.edu 37 5 175572124 175572124 + RNA SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:175572124C>A ENST00000515403.1 - 0 2993 RP11-826N14.4_ENST00000510029.1_lincRNA NR_036494.1 AGGTTTACTTCCTGAAGAATG 0.413000 6 6 8.12818e-05 8.3804e-05 1 1 0 SMARCA1 6594 broad.mit.edu 37 X 128599886 128599886 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chrX:128599886G>C ENST00000371122.4 - 22 2881 c.2752C>G c.(2752-2754)Caa>Gaa p.Q918E SMARCA1_ENST00000371121.3_Missense_Mutation_p.Q906E|SMARCA1_ENST00000371123.1_Missense_Mutation_p.Q906E NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 918 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 CGTTCAATTTGAGCCATAATT 0.328000 16 58 0 0 1 0 0 ZNF230 7773 broad.mit.edu 37 19 44514752 44514752 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:44514752G>C ENST00000429154.2 + 5 789 c.561G>C c.(559-561)caG>caC p.Q187H NM_006300.3 NP_006291.2 Q9UIE0 ZN230_HUMAN zinc finger protein 230 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) GTATTCACCAGAGAGTTCACT 0.458000 53 125 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22156691 22156691 + Nonsense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:22156691G>C ENST00000397126.4 - 4 1293 c.1145C>G c.(1144-1146)tCa>tGa p.S382* ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) ACTAAGGGTTGAGGGCCACTT 0.368000 12 60 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5904318 5904318 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr20:5904318C>T ENST00000378961.4 + 4 1732 c.1528C>T c.(1528-1530)Cac>Tac p.H510Y NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 510 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 TAGCTCCCATCACACAGCTGA 0.483000 5 89 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5237174 5237174 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:5237174G>A ENST00000274181.7 + 14 2254 c.2116G>A c.(2116-2118)Gag>Aag p.E706K ADAMTS16_ENST00000513709.1_Intron NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 706 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 TCCATGCTCGGAGGATAGCCG 0.378000 23 93 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77471894 77471894 + Missense_Mutation SNP C C A rs34885462 by1000genomes TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:77471894C>A ENST00000560626.2 - 4 2850 c.2375G>T c.(2374-2376)aGt>aTt p.S792I PEAK1_ENST00000312493.4_Missense_Mutation_p.S792I|PEAK1_ENST00000558305.1_Missense_Mutation_p.S792I Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 792 Pro-rich. S -> I (in dbSNP:rs34885462). cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding CTCTTCCACACTGCAAGCTTT 0.498000 4 67 1 1 1 1 0 GIPC1 10755 broad.mit.edu 37 19 14591576 14591576 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:14591576G>A ENST00000393033.4 - 5 572 c.303C>T c.(301-303)acC>acT p.T101T GIPC1_ENST00000393029.3_Silent_p.T4T|GIPC1_ENST00000393028.1_Silent_p.T4T|GIPC1_ENST00000345425.2_Silent_p.T101T|GIPC1_ENST00000586027.1_Silent_p.T101T|GIPC1_ENST00000591349.1_Silent_p.T4T NM_005716.3 NP_005707.1 O14908 GIPC1_HUMAN GIPC PDZ domain containing family, member 1 101 endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 GGGTGTTCAGGGTGCAGAACA 0.612000 OREG0025316 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 39 0 0 1 0 0 ACOX1 51 broad.mit.edu 37 17 73945836 73945836 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:73945836C>T ENST00000537812.1 - 10 1975 c.1327G>A c.(1327-1329)Gaa>Aaa p.E443K ACOX1_ENST00000293217.5_Missense_Mutation_p.E481K|ACOX1_ENST00000301608.4_Missense_Mutation_p.E481K NM_001185039.1 NP_001171968.1 Q15067 ACOX1_HUMAN acyl-CoA oxidase 1, palmitoyl 481 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 GTTAGGCTTTCGGGGCTGTTG 0.572000 7 55 0 0 1 0 0 TFAP2A 7020 broad.mit.edu 37 6 10404933 10404933 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:10404933G>A ENST00000379613.3 - 4 834 c.578C>T c.(577-579)tCc>tTc p.S193F TFAP2A_ENST00000482890.1_Missense_Mutation_p.S191F|TFAP2A_ENST00000379608.3_Missense_Mutation_p.S185F|TFAP2A_ENST00000379604.2_Missense_Mutation_p.S191F|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000319516.4_Missense_Mutation_p.S187F P05549 AP2A_HUMAN transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 191 ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding p.S191C(1)|p.S185C(1)|p.S187C(1) breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 13 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) AGGGATGGCGGAGACGGCATT 0.627000 34 43 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 71 0 0 1 0 0 ECH1 1891 broad.mit.edu 37 19 39306959 39306959 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr19:39306959C>T ENST00000221418.4 - 8 928 c.696G>A c.(694-696)atG>atA p.M232I NM_001398.2 NP_001389.2 enoyl CoA hydratase 1, peroxisomal cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 6 all_cancers(60;9.36e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) CGTCAGCCATCATCTTGCGGG 0.682000 3 29 0 0 1 0 0 GDF2 2658 broad.mit.edu 37 10 48413872 48413872 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:48413872C>T ENST00000249598.1 - 2 1155 c.996G>A c.(994-996)ctG>ctA p.L332L NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 332 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 AGTTTACCCGCAGGGAGGTCT 0.612000 16 81 0 0 1 0 0 TKTL1 8277 broad.mit.edu 37 X 153557916 153557916 + Nonsense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chrX:153557916C>T ENST00000369915.3 + 13 1858 c.1669C>T c.(1669-1671)Cag>Tag p.Q557* TKTL1_ENST00000217905.7_Nonsense_Mutation_p.Q297*|TKTL1_ENST00000369912.2_Nonsense_Mutation_p.Q501* NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 557 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCCTGACATTCAGGTTCATTC 0.542000 8 75 0 0 1 0 0 POLH 5429 broad.mit.edu 37 6 43555015 43555015 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:43555015G>A ENST00000372236.4 + 4 574 c.279G>A c.(277-279)cgG>cgA p.R93R POLH_ENST00000372226.1_Silent_p.R93R|POLH_ENST00000535400.1_Silent_p.R31R NM_006502.2 NP_006493.1 Q9Y253 POLH_HUMAN polymerase (DNA directed), eta 93 UmuC. DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C cytoplasm|nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) TTAGGTACCGGGAAGCCAGTG 0.448000 DNA polymerases (catalytic subunits) Xeroderma Pigmentosum 12 158 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31682680 31682680 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:31682680C>G ENST00000319386.3 + 11 2245 c.1252C>G c.(1252-1254)Ctg>Gtg p.L418V CCDC129_ENST00000451887.2_Missense_Mutation_p.L592V|CCDC129_ENST00000407970.3_Missense_Mutation_p.L566V|CCDC129_ENST00000409210.1_Missense_Mutation_p.L474V Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 566 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 TGATCATCCTCTGGGGTTTAT 0.517000 12 223 0 0 1 0 0 ZBTB22 9278 broad.mit.edu 37 6 33284067 33284067 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:33284067G>A ENST00000431845.2 - 2 778 c.627C>T c.(625-627)ttC>ttT p.F209F ZBTB22_ENST00000418724.1_Silent_p.F209F NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 209 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 CCCTGGGGCTGAAGTAGTTGC 0.617000 22 35 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24231400 24231400 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:24231400C>G ENST00000321728.7 + 17 2157 c.1982C>G c.(1981-1983)tCt>tGt p.S661C PRKCB_ENST00000303531.7_3'UTR NM_212535.2 NP_997700.1 P05771 KPCB_HUMAN protein kinase C, beta 661 AGC-kinase C-terminal. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) GCTGGCTTCTCTTATACTAAC 0.433000 22 54 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 112042115 112042115 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr9:112042115G>A ENST00000374566.3 - 2 910 c.393C>T c.(391-393)ctC>ctT p.L131L EPB41L4B_ENST00000374557.4_Silent_p.L131L NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 131 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGGCAGAGTCGAGGAACTGGA 0.443000 8 43 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130319039 130319039 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:130319039C>T ENST00000299164.2 + 1 171 c.171C>T c.(169-171)atC>atT p.I57I NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 57 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) TTTTTCAGATCACAGCATTTC 0.602000 11 76 0 0 1 0 0 EVI5 7813 broad.mit.edu 37 1 93170221 93170221 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:93170221G>A ENST00000370331.1 - 3 371 c.362C>T c.(361-363)tCa>tTa p.S121L EVI5_ENST00000540033.1_Missense_Mutation_p.S121L|EVI5_ENST00000543509.1_Missense_Mutation_p.S121L NM_005665.4 NP_005656.4 O60447 EVI5_HUMAN ecotropic viral integration site 5 121 Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1) 38 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) AGAGGCTGATGAACTCGACAC 0.363000 9 127 0 0 1 0 0 AIM2 9447 broad.mit.edu 37 1 159035839 159035839 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:159035839C>T ENST00000368130.4 - 4 965 c.677G>A c.(676-678)cGt>cAt p.R226H NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 226 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) ATCTAACACACGTGAGGCGCT 0.393000 59 108 0 0 1 0 0 NCOA1 8648 broad.mit.edu 37 2 24896249 24896249 + Translation_Start_Site SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:24896249G>A ENST00000407230.1 + 0 484 NCOA1_ENST00000405141.1_Missense_Mutation_p.D91N|NCOA1_ENST00000348332.3_Missense_Mutation_p.D91N|NCOA1_ENST00000406961.1_Missense_Mutation_p.D91N|NCOA1_ENST00000538539.1_Missense_Mutation_p.D91N|NCOA1_ENST00000395856.3_Missense_Mutation_p.D91N|NCOA1_ENST00000288599.5_Missense_Mutation_p.D91N Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATCAACAACTGATGACGATGT 0.348000 T PAX3 alveolar rhadomyosarcoma 24 103 0 0 1 0 0 IFT140 9742 broad.mit.edu 37 16 1618267 1618267 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:1618267G>A ENST00000426508.2 - 15 2084 c.1721C>T c.(1720-1722)tCt>tTt p.S574F IFT140_ENST00000439987.2_5'UTR NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 574 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) GCACCGCAGAGAAGCGATGCC 0.672000 6 18 0 0 1 0 0 ADRB2 154 broad.mit.edu 37 5 148207582 148207582 + Missense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:148207582C>A ENST00000305988.4 + 1 1427 c.1188C>A c.(1186-1188)agC>agA p.S396R NM_000024.5 NP_000015 P07550 ADRB2_HUMAN adrenoceptor beta 2, surface 396 activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) CTGTGCCTAGCGATAACATTG 0.453000 22 21 6.44725e-10 6.85021e-10 1 1 0 OGDHL 55753 broad.mit.edu 37 10 50944540 50944540 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:50944540C>G ENST00000374103.4 - 21 2702 c.2617G>C c.(2617-2619)Gaa>Caa p.E873Q OGDHL_ENST00000419399.1_Missense_Mutation_p.E816Q|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.E664Q NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 873 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GCCCCATCTTCAGGAATCACC 0.637000 19 71 0 0 1 0 0 NT5C3A 51251 broad.mit.edu 37 7 33063689 33063689 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr7:33063689C>G ENST00000396152.2 - 4 469 c.167G>C c.(166-168)aGa>aCa p.R56T NT5C3A_ENST00000409787.1_Missense_Mutation_p.R56T|NT5C3A_ENST00000242210.7_Missense_Mutation_p.R95T|NT5C3A_ENST00000381626.2_Missense_Mutation_p.R44T|NT5C3A_ENST00000409467.1_Missense_Mutation_p.R44T|NT5C3A_ENST00000405342.1_Missense_Mutation_p.R56T|NT5C3A_ENST00000610140.1_Missense_Mutation_p.R90T|AVL9_ENST00000404479.1_Intron NM_016489.12 NP_057573.2 5'-nucleotidase, cytosolic IIIA ATATGAAAATCTACTGAGTGT 0.338000 5 19 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130843513 130843513 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:130843513C>G ENST00000357462.5 - 13 1745 c.1652G>C c.(1651-1653)gGa>gCa p.G551A POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000409914.2_Missense_Mutation_p.G551A|POTEF_ENST00000360967.5_3'UTR A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 551 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TTCTGGGAATCCGACATGAGT 0.398000 32 16 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 36994259 36994259 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:36994259G>A ENST00000379242.3 + 7 812 c.510G>A c.(508-510)caG>caA p.Q170Q VIT_ENST00000404084.1_Silent_p.Q148Q|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Silent_p.Q170Q|VIT_ENST00000401530.1_Silent_p.Q170Q|VIT_ENST00000389975.3_Silent_p.Q170Q NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 170 proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) AAGCCTATCAGAGGCCACCTA 0.468000 8 33 0 0 1 0 0 AKNAD1 254268 broad.mit.edu 37 1 109359687 109359687 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:109359687C>T ENST00000370001.3 - 15 2630 c.2362G>A c.(2362-2364)Gaa>Aaa p.E788K AKNAD1_ENST00000477908.1_5'UTR NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 788 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 TTTATTTCTTCAGTGCTATCA 0.443000 30 56 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413428 105413428 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:105413428C>G ENST00000333244.5 - 7 8479 c.8360G>C c.(8359-8361)aGa>aCa p.R2787T AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2787 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CAGCTTTGCTCTCGGGGCCTG 0.602000 119 221 0 0 1 0 0 LOXL1 4016 broad.mit.edu 37 15 74240184 74240184 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:74240184G>A ENST00000261921.7 + 5 1869 c.1543G>A c.(1543-1545)Gac>Aac p.D515N LOXL1_ENST00000567675.1_3'UTR NM_005576.2 NP_005567.2 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 515 Lysyl-oxidase like. protein deamination extracellular space copper ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 CTACAATGCGGACATCGACTG 0.597000 10 96 0 0 1 0 0 GALC 2581 broad.mit.edu 37 14 88450815 88450815 + Nonsense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:88450815G>A ENST00000261304.2 - 5 611 c.505C>T c.(505-507)Cag>Tag p.Q169* GALC_ENST00000544807.2_Nonsense_Mutation_p.Q113*|GALC_ENST00000393568.4_Nonsense_Mutation_p.Q146*|GALC_ENST00000393569.2_Nonsense_Mutation_p.Q143*|GALC_ENST00000554916.1_5'UTR NM_000153.3|NM_001201401.1 NP_000144.2|NP_001188330.1 P54803 GALC_HUMAN galactosylceramidase 169 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GCAGTCAGCTGAAGATTGACA 0.453000 18 32 0 0 1 0 0 RBMS3 27303 broad.mit.edu 37 3 29628627 29628627 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:29628627C>G ENST00000434693.2 + 4 1027 c.327C>G c.(325-327)gaC>gaG p.D109E RBMS3_ENST00000445033.1_Missense_Mutation_p.D110E|RBMS3_ENST00000396583.3_Missense_Mutation_p.D110E|RBMS3_ENST00000456853.1_Missense_Mutation_p.D110E|RBMS3_ENST00000452462.1_Missense_Mutation_p.D110E|RBMS3_ENST00000383766.2_Missense_Mutation_p.D109E|RBMS3_ENST00000383767.2_Missense_Mutation_p.D110E|RBMS3_ENST00000273139.9_Missense_Mutation_p.D110E NM_001003793.2 NP_001003793.1 Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting protein 3 110 RRM 1. cytoplasm nucleotide binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 11 Ovarian(412;0.0956) TAGATTTTGACAGTCCTGCAG 0.403000 5 50 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140594772 140594772 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:140594772G>A ENST00000341948.4 + 1 1264 c.1077G>A c.(1075-1077)gaG>gaA p.E359E NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 359 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAATACCTGAGAACGCGCCTG 0.448000 8 178 0 0 1 0 0 NPC1 4864 broad.mit.edu 37 18 21121061 21121061 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr18:21121061G>C ENST00000269228.5 - 16 3039 c.2485C>G c.(2485-2487)Ctg>Gtg p.L829V NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.L511V NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 829 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) TCCTTTAGCAGAAGTGGAGAA 0.443000 18 186 0 0 1 0 0 C11orf82 220042 broad.mit.edu 37 11 82643638 82643638 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:82643638G>A ENST00000533655.1 + 6 1470 c.1258G>A c.(1258-1260)Gaa>Aaa p.E420K C11orf82_ENST00000430323.2_Missense_Mutation_p.E420K|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000329143.3_Missense_Mutation_p.E119K|C11orf82_ENST00000525361.1_Intron NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 420 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 GCCATTCTCTGAAAGCCTGAA 0.443000 17 144 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4934149 4934149 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:4934149C>T ENST00000345988.2 - 22 4596 c.4507G>A c.(4507-4509)Gag>Aag p.E1503K PPL_ENST00000590782.2_Missense_Mutation_p.E1501K NM_002705.4 NP_002696 O60437 PEPL_HUMAN periplakin 1503 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TGGACACTCTCGGAGAGCACC 0.652000 4 61 0 0 1 0 0 PORCN 64840 broad.mit.edu 37 X 48372644 48372644 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chrX:48372644G>A ENST00000367574.4 + 7 995 c.490G>A c.(490-492)Gag>Aag p.E164K PORCN_ENST00000359882.4_Missense_Mutation_p.E240K|PORCN_ENST00000361988.3_Missense_Mutation_p.E235K|PORCN_ENST00000355092.3_Missense_Mutation_p.E240K|PORCN_ENST00000355961.4_Missense_Mutation_p.E241K|PORCN_ENST00000326194.6_Missense_Mutation_p.E246K|PORCN_ENST00000537758.1_Missense_Mutation_p.E246K NM_001282167.1 NP_001269096.1 Q9H237 PORCN_HUMAN porcupine homolog (Drosophila) 246 Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCGAGCCTACGAGAGTGCTGT 0.597000 19 44 0 0 1 0 0 AVEN 57099 broad.mit.edu 37 15 34159807 34159807 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr15:34159807G>A ENST00000306730.3 - 5 991 c.862C>T c.(862-864)Ctg>Ttg p.L288L NM_020371.2 NP_065104.1 Q9NQS1 AVEN_HUMAN apoptosis, caspase activation inhibitor 288 anti-apoptosis|apoptosis endomembrane system|intracellular|membrane|membrane fraction protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 7 all_lung(180;1.78e-08) all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359) TTAAGCAACAGATCTAGTTCT 0.488000 32 147 0 0 1 0 0 SNAP25 6616 broad.mit.edu 37 20 10279959 10279959 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr20:10279959G>C ENST00000254976.2 + 7 662 c.451G>C c.(451-453)Gag>Cag p.E151Q SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_Missense_Mutation_p.E151Q NM_130811.2 NP_570824.1 P60880 SNP25_HUMAN synaptosomal-associated protein, 25kDa 151 t-SNARE coiled-coil homology 2. energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 18 Botulinum Toxin Type A(DB00083) TGAAAACCTAGAGCAGGTGAG 0.468000 51 167 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24483991 24483991 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:24483991G>A ENST00000355123.4 - 22 3109 c.2666C>T c.(2665-2667)tCa>tTa p.S889L ITSN2_ENST00000361999.3_Missense_Mutation_p.S862L|ITSN2_ENST00000406921.3_Missense_Mutation_p.S889L NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 889 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATGAATAGGTGATACAGATCC 0.343000 20 49 0 0 1 0 0 TIGD4 201798 broad.mit.edu 37 4 153691892 153691892 + Nonsense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:153691892C>A ENST00000304337.2 - 2 1085 c.265G>T c.(265-267)Gag>Tag p.E89* NM_145720.3 NP_663772.1 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 89 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) ATTAATGCCTCTTCCAGATCT 0.363000 53 122 4.37618e-36 4.80329e-36 1 1 0 VPS13B 157680 broad.mit.edu 37 8 100866426 100866426 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr8:100866426G>A ENST00000358544.2 + 56 10995 c.10884G>A c.(10882-10884)gcG>gcA p.A3628A VPS13B_ENST00000357162.2_Silent_p.A3603A|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3628 protein transport p.A3603A(1)|p.A3628A(1) NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TCACCACTGCGAGGCAGCTTG 0.562000 4 47 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21078642 21078642 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:21078642C>T ENST00000261383.3 - 24 3479 c.3480G>A c.(3478-3480)ctG>ctA p.L1160L DNAH3_ENST00000415178.1_Silent_p.L1160L NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1160 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AGTAATCATTCAGCCCTTTCT 0.443000 15 60 0 0 1 0 0 CLRN3 119467 broad.mit.edu 37 10 129676579 129676579 + Missense_Mutation SNP C C T rs35146970 byFrequency TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr10:129676579C>T ENST00000368671.3 - 3 677 c.515G>A c.(514-516)gGa>gAa p.G172E NM_152311.3 NP_689524.1 Q8NCR9 CLRN3_HUMAN clarin 3 172 integral to membrane endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235) GTGGGTCGTTCCTTTACTGGT 0.453000 5 116 0 0 1 0 0 MYO1B 4430 broad.mit.edu 37 2 192275892 192275892 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr2:192275892C>T ENST00000392318.3 + 27 3114 c.2867C>T c.(2866-2868)cCa>cTa p.P956L MYO1B_ENST00000439065.2_Missense_Mutation_p.P201L|MYO1B_ENST00000339514.4_Missense_Mutation_p.P898L|MYO1B_ENST00000392316.1_Missense_Mutation_p.P927L|MYO1B_ENST00000304164.4_Missense_Mutation_p.P956L NM_001130158.1 NP_001123630.1 O43795 MYO1B_HUMAN myosin IB 956 myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.P956Q(1)|p.P898Q(1) NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) GCTTTATACCCATCTAGGTAT 0.358000 21 95 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8585837 8585837 + Missense_Mutation SNP C C A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:8585837C>A ENST00000377464.1 - 1 161 c.7G>T c.(7-9)Gat>Tat p.D3Y RERE_ENST00000337907.3_Intron|RERE_ENST00000400908.2_Intron|RERE_ENST00000400907.2_Intron Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 0 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CTGAATGGATCATCCATGACT 0.463000 9 4 1.08611e-07 1.14073e-07 1 1 0 SYTL2 54843 broad.mit.edu 37 11 85438975 85438975 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr11:85438975G>C ENST00000359152.5 - 1 96 c.97C>G c.(97-99)Cag>Gag p.Q33E SYTL2_ENST00000525423.1_5'UTR|SYTL2_ENST00000527523.1_Missense_Mutation_p.Q427E|SYTL2_ENST00000316356.4_Missense_Mutation_p.Q476E|SYTL2_ENST00000389960.4_Missense_Mutation_p.Q475E|SYTL2_ENST00000524452.1_Missense_Mutation_p.Q475E|SYTL2_ENST00000528231.1_Missense_Mutation_p.Q475E NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 475 RabBD. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CCTGGCACCTGAGATGGCTCA 0.453000 14 27 0 0 1 0 0 PLA2G2E 30814 broad.mit.edu 37 1 20249137 20249137 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:20249137G>C ENST00000375116.3 - 2 209 c.152C>G c.(151-153)tCc>tGc p.S51C NM_014589.1 NP_055404.1 Q9NZK7 PA2GE_HUMAN phospholipase A2, group IIE 51 inflammatory response|lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1) 10 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CGGCCAGTGGGAGCCACCGAT 0.612000 13 80 0 0 1 0 0 PAPD7 11044 broad.mit.edu 37 5 6750570 6750570 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:6750570C>T ENST00000230859.6 + 10 1193 c.1064C>T c.(1063-1065)tCa>tTa p.S355L NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 355 Ser-rich. cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CTCCTGTCTTCAGGCTCCTCG 0.572000 11 54 0 0 1 0 0 NOMO1 23420 broad.mit.edu 37 16 14989478 14989478 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr16:14989478G>C ENST00000287667.7 + 31 3816 c.3645G>C c.(3643-3645)aaG>aaC p.K1215N NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 1215 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 GACAAGCCAAGAAACAGAAGA 0.607000 87 515 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 4 57 0 0 1 0 0 AJUBA 84962 broad.mit.edu 37 14 23445703 23445703 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr14:23445703C>G ENST00000262713.2 - 4 1576 c.1201G>C c.(1201-1203)Gag>Cag p.E401Q AJUBA_ENST00000361265.4_Missense_Mutation_p.E401Q|AJUBA_ENST00000397388.3_5'UTR|RP11-298I3.5_ENST00000555074.1_Intron NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 401 LIM zinc-binding 2. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding CAGCATTTCTCAGCTGCCTCC 0.478000 49 188 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29184080 29184080 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr17:29184080G>A ENST00000321990.4 + 8 3121 c.2743G>A c.(2743-2745)Gaa>Aaa p.E915K CTD-2349P21.11_ENST00000580873.1_RNA NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 915 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) TGCTCTTGGTGAATTTTCAAC 0.353000 19 43 0 0 1 0 0 FOXD2 2306 broad.mit.edu 37 1 47904552 47904552 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:47904552G>A ENST00000334793.5 + 1 2864 c.745G>A c.(745-747)Gcg>Acg p.A249T NM_004474.3 NP_004465.3 O60548 FOXD2_HUMAN forkhead box D2 249 Ala-rich.|Pro-rich. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding lung(4) 4 READ - Rectum adenocarcinoma(2;0.0908) cggggccgcggcggcgggggA 0.771000 11 5 0 0 1 0 0 C18orf54 162681 broad.mit.edu 37 18 51898905 51898905 + Nonsense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr18:51898905C>T ENST00000300091.5 + 6 1245 c.913C>T c.(913-915)Caa>Taa p.Q305* C18orf54_ENST00000582188.1_3'UTR|C18orf54_ENST00000382911.4_Nonsense_Mutation_p.Q466*|C18orf54_ENST00000578138.1_Nonsense_Mutation_p.Q84* NM_173529.4 NP_775800.3 Q8IYD9 CR054_HUMAN chromosome 18 open reading frame 54 305 extracellular region breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186) ATTTAACCTTCAAGCAGTACA 0.338000 25 64 0 0 1 0 0 HPS3 84343 broad.mit.edu 37 3 148868438 148868438 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr3:148868438G>A ENST00000296051.2 + 6 1356 c.1216G>A c.(1216-1218)Gag>Aag p.E406K HPS3_ENST00000460120.1_Missense_Mutation_p.E241K NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 406 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) AGCTCGTGAGGAGGACCCGTA 0.512000 Hermansky-Pudlak syndrome 11 59 0 0 1 0 0 NASP 4678 broad.mit.edu 37 1 46082055 46082055 + Frame_Shift_Del DEL C C - TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:46082055delC ENST00000350030.3 + 12 2156 c.2069delC c.(2068-2070)tcafs p.S690fs NASP_ENST00000537798.1_Frame_Shift_Del_p.S626fs|NASP_ENST00000351223.3_Frame_Shift_Del_p.S351fs|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000402363.3_Frame_Shift_Del_p.S692fs|NASP_ENST00000372052.4_Frame_Shift_Del_p.S324fs NM_002482.3 NP_002473.2 P49321 NASP_HUMAN nuclear autoantigenic sperm protein (histone-binding) 690 blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 17 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) GGAGGCTCTTCAGTCTCCATG 0.488 79 129 --- --- --- --- USP33 23032 broad.mit.edu 37 1 78180315 78180315 + Frame_Shift_Del DEL A A - TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr1:78180315delA ENST00000370793.1 - 20 2638 c.2292delT c.(2290-2292)tttfs p.F764fs USP33_ENST00000357428.1_Frame_Shift_Del_p.F764fs|USP33_ENST00000370792.3_Frame_Shift_Del_p.F756fs|USP33_ENST00000370794.3_Frame_Shift_Del_p.F733fs NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 764 DUSP 1. axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 GAATACAAAGAAAGTCATTAT 0.368 43 82 --- --- --- --- KCTD8 386617 broad.mit.edu 37 4 44176909 44176909 + Frame_Shift_Del DEL C C - TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr4:44176909delC ENST00000360029.3 - 2 1603 c.1320delG c.(1318-1320)atgfs p.M440fs NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 440 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 TACACTTTTTCATTTCTTCTT 0.398 HNSCC(17;0.042) 36 116 --- --- --- --- CTNND2 1501 broad.mit.edu 37 5 11199639 11199639 + Frame_Shift_Del DEL C C - TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr5:11199639delC ENST00000304623.8 - 11 2085 c.1896delG c.(1894-1896)ctgfs p.L632fs CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Frame_Shift_Del_p.L632fs|CTNND2_ENST00000458100.2_Frame_Shift_Del_p.L199fs|CTNND2_ENST00000503622.1_Frame_Shift_Del_p.L295fs|CTNND2_ENST00000511377.1_Frame_Shift_Del_p.L541fs NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 632 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 CACAGTTTTTCAGGGCAATTT 0.498 59 81 --- --- --- --- MYLIP 29116 broad.mit.edu 37 6 16144013 16144022 + Frame_Shift_Del DEL TCGTGCTCTT TCGTGCTCTT - TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:16144013_16144022delTCGTGCTCTT ENST00000349606.4 + 4 707_716 c.203_212delTCGTGCTCTT c.(202-213)atcgtgctcttgfs p.IVLL68fs MYLIP_ENST00000356840.3_Frame_Shift_Del_p.IVLL249fs Q8WY64 MYLIP_HUMAN myosin regulatory light chain interacting protein 249 FERM. cellular component movement|nervous system development cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(50;0.0799)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.241) GGGAACAGCATCGTGCTCTTGTTTAAAATG 0.519 40 116 --- --- --- --- HLA-DRB6 3128 broad.mit.edu 37 6 32521545 32521546 + RNA INS - - AAGG rs144810212 by1000genomes TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr6:32521545_32521546insAAGG ENST00000411500.1 - 0 851 NR_001298.1 TTGGGGAAAGACTTTATCCAGG 0.436 5 4 --- --- --- --- HIP1R 9026 broad.mit.edu 37 12 123345546 123345546 + Frame_Shift_Del DEL G G - TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr12:123345546delG ENST00000253083.4 + 29 2975 c.2850delG c.(2848-2850)gtgfs p.V950fs NM_003959.1 NP_003950.1 O75146 HIP1R_HUMAN huntingtin interacting protein 1 related 950 I/LWEQ. receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) CCAATGTGGTGGCCTCCACCA 0.637 20 18 --- --- --- --- SACS 26278 broad.mit.edu 37 13 23915245 23915246 + In_Frame_Ins INS - - TTC TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9 5c843250-8dd1-488d-a5d3-76768e7ccec2 g.chr13:23915245_23915246insTTC ENST00000382298.3 - 10 3357_3358 c.2769_2770insGAA c.(2767-2772)gaattg>gaaGAAttg p.923_924insE SACS_ENST00000382292.3_In_Frame_Ins_p.923_924insE|SACS_ENST00000402364.1_In_Frame_Ins_p.173_174insE NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 923 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AATATTGCCAATTCTTGAATAA 0.376 41 96 --- --- --- ---