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 SGOL1 151648 broad.mit.edu 37 3 20215936 20215936 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:20215936C>T ENST00000412997.1 - 6 1438 c.1087G>A c.(1087-1089)Gag>Aag p.E363K SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000421451.1_Missense_Mutation_p.E363K|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000263753.4_Missense_Mutation_p.E363K|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000412868.1_Missense_Mutation_p.E363K|SGOL1_ENST00000442720.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1-AS1_ENST00000441442.1_RNA NM_001199251.1 NP_001186180.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 363 attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 ACTTCAGACTCGTTGTTTTCT 0.413000 137 81 0 0 1 0 0 CPNE7 27132 broad.mit.edu 37 16 89661800 89661800 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr16:89661800C>T ENST00000268720.5 + 16 1683 c.1553C>T c.(1552-1554)aCg>aTg p.T518M CPNE7_ENST00000319518.8_Missense_Mutation_p.T443M|CPNE7_ENST00000566398.1_3'UTR NM_014427.4 NP_055242.1 Q9UBL6 CPNE7_HUMAN copine VII 518 VWFA. lipid metabolic process transporter activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2) 17 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) CTGATCCTGACGGACGGCGTG 0.647000 6 34 0 0 1 0 0 ZNF426 79088 broad.mit.edu 37 19 9639402 9639402 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr19:9639402C>T ENST00000593003.1 - 6 1682 c.1205G>A c.(1204-1206)cGa>cAa p.R402Q ZNF426_ENST00000535489.1_Missense_Mutation_p.R440Q|ZNF426_ENST00000253115.2_Missense_Mutation_p.R440Q Q9BUY5 ZN426_HUMAN zinc finger protein 426 440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 ACTGTGCGTTCGCATGTGATT 0.433000 29 62 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124748266 124748266 + Missense_Mutation SNP T T A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:124748266T>A ENST00000311127.4 - 2 450 c.383A>T c.(382-384)cAg>cTg p.Q128L NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 128 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 CTCTTGATTCTGATAGAAGGT 0.478000 13 88 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40367782 40367782 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr19:40367782G>A ENST00000221347.6 - 29 13185 c.13178C>T c.(13177-13179)gCg>gTg p.A4393V NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4393 TIL 10. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CACGAAACCCGCGTCGCACTG 0.657000 10 142 0 0 1 0 0 GBP3 2635 broad.mit.edu 37 1 89474711 89474711 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:89474711C>T ENST00000370481.4 - 10 1798 c.1578G>A c.(1576-1578)gtG>gtA p.V526V NM_018284.2 NP_060754.2 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 526 integral to membrane GTP binding|GTPase activity breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) TCAATTGTTTCACATGTTCTT 0.433000 21 36 0 0 1 0 0 CA1 759 broad.mit.edu 37 8 86245787 86245787 + Silent SNP A A T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr8:86245787A>T ENST00000523953.1 - 6 1463 c.417T>A c.(415-417)gcT>gcA p.A139A CA1_ENST00000523022.1_Silent_p.A139A|CA1_ENST00000256119.5_Silent_p.A139A|CA1_ENST00000522389.1_Silent_p.A26A|CA1_ENST00000432364.2_Silent_p.A139A|CA1_ENST00000542576.1_Silent_p.A139A|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000431316.1_Silent_p.A139A P00915 CAH1_HUMAN carbonic anhydrase I 139 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 13 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) CCAAACCATCAGCCTTTGAGG 0.388000 10 40 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6997852 6997852 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr18:6997852C>T ENST00000389658.3 - 33 4788 c.4695G>A c.(4693-4695)ctG>ctA p.L1565L NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1565 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCAAGTCATTCAGCAGCACAC 0.408000 29 52 0 0 1 0 0 MAGOH 4116 broad.mit.edu 37 1 53692717 53692717 + Silent SNP C C T rs75427086 byFrequency TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:53692717C>T ENST00000371470.3 - 5 602 c.441G>A c.(439-441)taG>taA p.*147* MAGOH_ENST00000371466.4_Silent_p.*110* NM_002370.3 NP_002361.1 P61326 MGN_HUMAN mago-nashi homolog, proliferation-associated (Drosophila) 0 mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1) 6 AATATTCAGTCTAGATTGGTT 0.368000 3 34 0 0 1 0 0 KLF5 688 broad.mit.edu 37 13 73636032 73636032 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr13:73636032C>G ENST00000377687.4 + 2 831 c.295C>G c.(295-297)Cag>Gag p.Q99E KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.Q8E NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 99 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 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) TCTGACACCTCAGCTTCCTCC 0.413000 45 87 0 0 1 0 0 TLR3 7098 broad.mit.edu 37 4 187004339 187004339 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr4:187004339C>T ENST00000296795.3 + 4 1603 c.1499C>T c.(1498-1500)tCa>tTa p.S500L TLR3_ENST00000504367.1_Missense_Mutation_p.S223L NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) AGCTCTCCTTCACCATTCCAG 0.463000 27 41 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109577362 109577362 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr12:109577362C>G ENST00000338432.7 + 2 271 c.152C>G c.(151-153)tCt>tGt p.S51C ACACB_ENST00000377848.3_Missense_Mutation_p.S51C|ACACB_ENST00000377854.5_Missense_Mutation_p.S51C O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 51 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) TTTCCAGCCTCTGATAACTCA 0.562000 13 67 0 0 1 0 0 SFMBT2 57713 broad.mit.edu 37 10 7212906 7212906 + Missense_Mutation SNP T T G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr10:7212906T>G ENST00000361972.4 - 20 2618 c.2528A>C c.(2527-2529)aAg>aCg p.K843T SFMBT2_ENST00000397167.1_Missense_Mutation_p.K843T NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 843 SAM. regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 CTGAAATATCTTGGCCAAGGG 0.557000 6 134 0 0 1 0 0 TMTC1 83857 broad.mit.edu 37 12 29757111 29757111 + Splice_Site SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr12:29757111C>G ENST00000256062.5 - 7 1399 c.926G>C c.(925-927)aGc>aCc p.S309T TMTC1_ENST00000552618.1_Splice_Site_p.S479T|TMTC1_ENST00000381224.2_Splice_Site_p.S371T|TMTC1_ENST00000551659.1_Splice_Site_p.S479T|TMTC1_ENST00000539277.1_Splice_Site_p.S417T|TMTC1_ENST00000319685.8_5'UTR NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 417 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) CAATAGTTACCTAGGCATGTA 0.493000 27 26 0 0 1 0 0 USP11 8237 broad.mit.edu 37 X 47092405 47092405 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chrX:47092405C>T ENST00000218348.3 + 1 92 c.92C>T c.(91-93)tCg>tTg p.S31L USP11_ENST00000377107.2_5'UTR NM_004651.3 NP_004642.2 P51784 UBP11_HUMAN ubiquitin specific peptidase 11 31 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 CTTCCAATCTCGCACAGCTGC 0.632000 24 8 0 0 1 0 0 ZNF417 147687 broad.mit.edu 37 19 58423471 58423471 + Nonsense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr19:58423471G>C ENST00000312026.5 - 2 284 c.120C>G c.(118-120)taC>taG p.Y40* ZNF417_ENST00000595559.1_Nonsense_Mutation_p.Y39*|CTD-2583A14.9_ENST00000602124.1_5'UTR|ZNF417_ENST00000536263.1_5'UTR NM_152475.2 NP_689688.2 Q8TAU3 ZN417_HUMAN zinc finger protein 417 40 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1) 18 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) TCACATCACGGTACAAGCACC 0.498000 15 49 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30361933 30361933 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr17:30361933C>T ENST00000327564.7 + 6 2123 c.2062C>T c.(2062-2064)Ctc>Ttc p.L688F LRRC37B_ENST00000543378.2_Missense_Mutation_p.L579F|LRRC37B_ENST00000341671.7_Missense_Mutation_p.L661F|LRRC37B_ENST00000394713.3_Missense_Mutation_p.L610F|LRRC37B_ENST00000584368.1_Missense_Mutation_p.L622F Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 661 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) TTTCAGAATTCTCAATCGCAA 0.328000 23 38 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2806893 2806893 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr8:2806893C>G ENST00000520002.1 - 69 10888 c.10333G>C c.(10333-10335)Gaa>Caa p.E3445Q CSMD1_ENST00000537824.1_Missense_Mutation_p.E3444Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.E3445Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.E3268Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.E3268Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.E3267Q Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3445 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) CCTCCTCTTTCAAGTCCAGAT 0.308000 9 16 0 0 1 0 0 CRYZ 1429 broad.mit.edu 37 1 75184908 75184908 + Missense_Mutation SNP C C A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:75184908C>A ENST00000417775.1 - 5 917 c.413G>T c.(412-414)cGa>cTa p.R138L CRYZ_ENST00000370871.3_Missense_Mutation_p.R138L|CRYZ_ENST00000340866.5_Missense_Mutation_p.R138L|CRYZ_ENST00000370872.3_Intron NM_001130042.1 NP_001123514.1 Q08257 QOR_HUMAN crystallin, zeta (quinone reductase) 138 protein homotetramerization|visual perception|xenobiotic catabolic process cytosol|Golgi apparatus mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5) 10 Dicumarol(DB00266) GATCAGAGCTCGATAAGCAGT 0.433000 17 49 5.03518e-11 5.37985e-11 1 1 0 RIMS2 9699 broad.mit.edu 37 8 105263382 105263382 + Missense_Mutation SNP A A C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr8:105263382A>C ENST00000507740.1 + 21 3500 c.3264A>C c.(3262-3264)aaA>aaC p.K1088N RIMS2_ENST00000339750.2_Missense_Mutation_p.K210N|RIMS2_ENST00000436393.2_Missense_Mutation_p.K1292N|RIMS2_ENST00000406091.3_Missense_Mutation_p.K1274N|RIMS2_ENST00000262231.10_Missense_Mutation_p.K1113N NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1336 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CACAAGGAAAAGTTTTACAGG 0.368000 HNSCC(12;0.0054) 4 56 0 0 1 0 0 IRX4 50805 broad.mit.edu 37 5 1880923 1880923 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr5:1880923G>A ENST00000505790.1 - 4 779 c.323C>T c.(322-324)tCg>tTg p.S108L IRX4_ENST00000231357.2_Missense_Mutation_p.S108L|IRX4_ENST00000513692.1_Missense_Mutation_p.S108L|IRX4_ENST00000505938.1_5'UTR NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 108 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) CGCAGATCCCGAACCATCCTT 0.632000 10 35 0 0 1 0 0 LONP1 9361 broad.mit.edu 37 19 5707774 5707774 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr19:5707774G>A ENST00000360614.3 - 6 1153 c.996C>T c.(994-996)agC>agT p.S332S LONP1_ENST00000540670.2_Silent_p.S136S|LONP1_ENST00000593119.1_Silent_p.S268S|LONP1_ENST00000585374.1_Silent_p.S218S|LONP1_ENST00000590729.1_Silent_p.S202S NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 332 Lon. cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CGCCCATGTCGCTCAGGTAGA 0.672000 17 52 0 0 1 0 0 ZNF829 374899 broad.mit.edu 37 19 37383321 37383321 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr19:37383321G>A ENST00000520965.1 - 6 681 c.615C>T c.(613-615)ttC>ttT p.F205F ZNF829_ENST00000391711.3_Silent_p.F124F|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron NM_001171979.1 NP_001165450.1 Q3KNS6 ZN829_HUMAN zinc finger protein 829 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTACTTGACTGAAATGTCTCT 0.338000 107 29 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103359184 103359184 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr8:103359184G>C ENST00000520539.1 - 6 1129 c.523C>G c.(523-525)Cag>Gag p.Q175E UBR5_ENST00000220959.4_Missense_Mutation_p.Q175E|UBR5_ENST00000521922.1_Missense_Mutation_p.Q175E NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 175 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) GGCTGGGGCTGACTGCCCAAA 0.532000 35 180 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3888262 3888262 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:3888262C>T ENST00000319331.3 + 2 2698 c.1937C>T c.(1936-1938)gCg>gTg p.A646V SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 646 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) ATTAGCCTTGCGTCCATTGCT 0.418000 15 110 0 0 1 0 0 SWT1 54823 broad.mit.edu 37 1 185151187 185151187 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:185151187C>T ENST00000367500.4 + 7 1301 c.1136C>T c.(1135-1137)tCt>tTt p.S379F SWT1_ENST00000367501.3_Missense_Mutation_p.S379F NM_017673.6 NP_060143.4 Q5T5J6 SWT1_HUMAN SWT1 RNA endoribonuclease homolog (S. cerevisiae) 379 breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1) 41 CATTCCTCCTCTGGTATACCC 0.343000 8 25 0 0 1 0 0 ALKBH6 84964 broad.mit.edu 37 19 36501541 36501541 + Nonsense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr19:36501541G>A ENST00000486389.1 - 5 1022 c.274C>T c.(274-276)Cag>Tag p.Q92* ALKBH6_ENST00000485128.1_Nonsense_Mutation_p.Q115*|ALKBH6_ENST00000252984.7_Silent_p.I127I|ALKBH6_ENST00000378875.3_Silent_p.I155I|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000495116.2_5'UTR Q3KRA9 ALKB6_HUMAN alkB, alkylation repair homolog 6 (E. coli) 115 cytoplasm|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1) 9 all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) AGCCCAGGCTGATGGTGCTGA 0.672000 9 88 0 0 1 0 0 SCAPER 49855 broad.mit.edu 37 15 77134134 77134134 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr15:77134134G>C ENST00000563290.1 - 5 429 c.334C>G c.(334-336)Cga>Gga p.R112G SCAPER_ENST00000538941.2_5'UTR|SCAPER_ENST00000324767.7_Missense_Mutation_p.R112G Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 111 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 TCTACTGCTCGGCGAAGATTA 0.403000 9 48 0 0 1 0 0 TERC 7012 broad.mit.edu 37 3 169482441 169482441 + RNA SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:169482441G>A ENST00000602385.1 - 0 407 NR_001566.1 ACAGCTCAGGGAATCGCGCCG 0.687000 Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 7 9 0 0 1 0 0 FAM47E-STBD1 100631383 broad.mit.edu 37 4 77228025 77228025 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr4:77228025G>A ENST00000237642.6 + 1 847 c.103G>A c.(103-105)Gat>Aat p.D35N FAM47E_ENST00000515604.1_Intron|FAM47E-STBD1_ENST00000539752.1_Intron NM_003943.4 NP_003934.1 GAAGGACGGGGATGCGGAGCA 0.697000 OREG0016232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 12 0 0 1 0 0 BHLHE41 79365 broad.mit.edu 37 12 26277742 26277742 + Translation_Start_Site SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr12:26277742G>C ENST00000242728.4 - 0 318 NM_030762.2 NP_110389.1 Q9C0J9 BHE41_HUMAN basic helix-loop-helix family, member e41 cell differentiation|cell proliferation|organ morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1) 5 CCTCTGTTTCGATTTTTGGGG 0.483000 11 452 0 0 1 0 0 ZNF461 92283 broad.mit.edu 37 19 37129831 37129831 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr19:37129831C>T ENST00000588268.1 - 6 1643 c.1416G>A c.(1414-1416)atG>atA p.M472I ZNF461_ENST00000360357.4_Missense_Mutation_p.M449I|ZNF461_ENST00000540605.2_5'UTR NM_153257.2 NP_694989.2 Q8TAF7 ZN461_HUMAN zinc finger protein 461 472 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2) 29 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TACCACATATCATGCATTCAT 0.398000 10 85 0 0 1 0 0 RP11-85G18.6 0 broad.mit.edu 37 10 27535186 27535186 + RNA SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr10:27535186G>C ENST00000574842.1 + 0 255 CTTTAAGCCAGAGTGGCTGTC 0.448000 15 6 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236730029 236730029 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:236730029C>T ENST00000366582.3 - 30 4339 c.4225G>A c.(4225-4227)Gag>Aag p.E1409K HEATR1_ENST00000366581.2_Missense_Mutation_p.E1328K NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1409 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AGGAATTTCTCTGCACCCAGT 0.493000 16 20 0 0 1 0 0 IGSF5 150084 broad.mit.edu 37 21 41143094 41143094 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr21:41143094G>A ENST00000380588.4 + 4 773 c.670G>A c.(670-672)Gcc>Acc p.A224T IGSF5_ENST00000479378.1_3'UTR NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 224 Ig-like V-type 2. integral to membrane|tight junction breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) GAGCCTGAAGGCCCGCAAGTC 0.493000 21 111 0 0 1 0 0 C9orf9 11092 broad.mit.edu 37 9 135763737 135763737 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr9:135763737C>T ENST00000372136.3 + 4 855 c.408C>T c.(406-408)ggC>ggT p.G136G C9orf9_ENST00000356311.5_Silent_p.G136G|C9orf9_ENST00000350499.6_Silent_p.G136G Q96E40 CI009_HUMAN chromosome 9 open reading frame 9 136 p.?(1) cervix(1)|large_intestine(1)|lung(1)|prostate(1) 4 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06) ACTACGGCGGCGTGGTCAGCC 0.617000 4 35 0 0 1 0 0 DCLK1 9201 broad.mit.edu 37 13 36383154 36383154 + Splice_Site SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr13:36383154C>G ENST00000255448.4 - 13 1978 c.e13+1 DCLK1_ENST00000360631.3_Splice_Site|DCLK1_ENST00000379893.1_Splice_Site NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) GTTGCCCATACCCACGGAATG 0.478000 5 20 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544696 82544696 + Missense_Mutation SNP T T G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr7:82544696T>G ENST00000333891.9 - 7 12943 c.12606A>C c.(12604-12606)aaA>aaC p.K4202N PCLO_ENST00000423517.2_Missense_Mutation_p.K4202N|PCLO_ENST00000437081.1_Missense_Mutation_p.K922N NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TAGGTGAAAATTTTGACATTT 0.383000 13 21 0 0 1 0 0 TLK1 9874 broad.mit.edu 37 2 171916477 171916477 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:171916477G>A ENST00000360843.3 - 5 830 c.426C>T c.(424-426)gtC>gtT p.V142V TLK1_ENST00000521943.1_Intron|TLK1_ENST00000431350.2_Intron|TLK1_ENST00000486857.1_Intron|TLK1_ENST00000434911.2_Intron|TLK1_ENST00000442919.2_Intron Q9UKI8 TLK1_HUMAN tousled-like kinase 1 136 cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 aggactggaagaccgggaggt 0.547000 25 34 0 0 1 0 0 ODF3L2 284451 broad.mit.edu 37 19 463920 463920 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr19:463920G>A ENST00000315489.4 - 4 1029 c.794C>T c.(793-795)tCg>tTg p.S265L ODF3L2_ENST00000382696.3_Missense_Mutation_p.S229L NM_182577.2 NP_872383.1 Q3SX64 OD3L2_HUMAN outer dense fiber of sperm tails 3-like 2 265 large_intestine(1)|lung(2) 3 GGCCCGTTTCGAGTGGCGGAT 0.706000 6 13 0 0 1 0 0 ITGB6 3694 broad.mit.edu 37 2 161025759 161025759 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:161025759G>C ENST00000283249.2 - 7 1218 c.981C>G c.(979-981)atC>atG p.I327M ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.I327M|ITGB6_ENST00000428609.2_Missense_Mutation_p.I285M|ITGB6_ENST00000409967.2_Missense_Mutation_p.I327M NM_001282353.1|NM_001282354.1|NM_001282388.1 NP_001269282.1|NP_001269283.1|NP_001269317.1 P18564 ITB6_HUMAN integrin, beta 6 327 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 TTACAGCGAAGATCAATAACA 0.294000 90 90 0 0 1 0 0 RXRB 6257 broad.mit.edu 37 6 33163152 33163152 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr6:33163152G>C ENST00000374680.3 - 8 1547 c.1336C>G c.(1336-1338)Ctg>Gtg p.L446V RXRB_ENST00000374685.4_Missense_Mutation_p.L450V|RXRB_ENST00000544186.1_Missense_Mutation_p.L260V NM_001270401.1|NM_021976.4 NP_001257330.1|NP_068811.1 P28702 RXRB_HUMAN retinoid X receptor, beta 446 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2) 15 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) GGATTAAACAGAATGATTGCC 0.527000 36 37 0 0 1 0 0 SNRPA 6626 broad.mit.edu 37 19 41265447 41265447 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr19:41265447G>A ENST00000243563.3 + 3 908 c.358G>A c.(358-360)Gcc>Acc p.A120T SNRPA_ENST00000599570.1_3'UTR NM_004596.4 NP_004587.1 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A 120 nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GGAGACCCCGGCCACCAAGAA 0.652000 10 120 0 0 1 0 0 XPR1 9213 broad.mit.edu 37 1 180772532 180772532 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:180772532G>A ENST00000367590.4 + 4 430 c.232G>A c.(232-234)Gca>Aca p.A78T XPR1_ENST00000367589.3_Missense_Mutation_p.A78T NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 78 SPX. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 AGAGAAGCTCGCAGAGGCTCA 0.423000 8 62 0 0 1 0 0 ZUFSP 221302 broad.mit.edu 37 6 116966910 116966910 + Silent SNP T T A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr6:116966910T>A ENST00000368576.3 - 9 1899 c.1656A>T c.(1654-1656)gcA>gcT p.A552A NM_145062.2 NP_659499.2 Q96AP4 ZUFSP_HUMAN zinc finger with UFM1-specific peptidase domain 552 intracellular zinc ion binding NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186) CACCCTCTACTGCCAATATCT 0.318000 19 65 0 0 1 0 0 IMPAD1 54928 broad.mit.edu 37 8 57876521 57876521 + Missense_Mutation SNP C C A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr8:57876521C>A ENST00000262644.4 - 5 1169 c.911G>T c.(910-912)gGt>gTt p.G304V NM_017813.4 NP_060283.3 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 304 Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) GATGGCATTACCAGCACATAT 0.418000 17 17 1.5739e-10 1.66675e-10 1 1 0 ZNF513 130557 broad.mit.edu 37 2 27600966 27600966 + Missense_Mutation SNP T T C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:27600966T>C ENST00000323703.6 - 4 1270 c.1072A>G c.(1072-1074)Aaa>Gaa p.K358E ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_Missense_Mutation_p.K296E NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 358 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCAAAGCCTTTGTCACTGGGG 0.657000 15 64 0 0 1 0 0 OR5T3 390154 broad.mit.edu 37 11 56019877 56019877 + Missense_Mutation SNP A A C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr11:56019877A>C ENST00000303059.3 + 1 202 c.202A>C c.(202-204)Acc>Ccc p.T68P NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) CTATCTCTTTACCTTGATAGG 0.378000 8 87 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3598711 3598711 + RNA SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr16:3598711G>A ENST00000301749.7 - 0 3051 NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTGCCACTGCGATGGCCCGGG 0.652000 6 6 0 0 1 0 0 LYG1 129530 broad.mit.edu 37 2 99901258 99901258 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:99901258G>A ENST00000409448.1 - 7 675 c.359C>T c.(358-360)tCc>tTc p.S120F LYG1_ENST00000308528.4_Missense_Mutation_p.S120F Q8N1E2 LYG1_HUMAN lysozyme G-like 1 120 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity endometrium(2)|kidney(1)|large_intestine(3)|lung(1) 7 ACTAATCCAGGATGTGGGAGC 0.542000 11 16 0 0 1 0 0 BORA 79866 broad.mit.edu 37 13 73327873 73327873 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr13:73327873G>A ENST00000390667.5 + 11 1625 c.1528G>A c.(1528-1530)Gat>Aat p.D510N BORA_ENST00000377815.3_Missense_Mutation_p.D440N NM_024808.2 NP_079084.2 Q6PGQ7 BORA_HUMAN bora, aurora kinase A activator 510 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding CAATATTATGGATACAGTTGG 0.333000 8 71 0 0 1 0 0 XRCC4 7518 broad.mit.edu 37 5 82500669 82500669 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr5:82500669G>A ENST00000282268.3 + 6 849 c.674G>A c.(673-675)cGa>cAa p.R225Q XRCC4_ENST00000396027.4_Missense_Mutation_p.R225Q|XRCC4_ENST00000338635.6_Missense_Mutation_p.R225Q|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000511817.1_Missense_Mutation_p.R225Q NM_003401.3|NM_022406.2|NM_022550.2 NP_003392.1|NP_071801.1|NP_072044.1 Q13426 XRCC4_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 4 225 DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm DNA binding|protein C-terminus binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3) 17 Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034) OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28) ACTGCTGACCGAGATCCAGTC 0.423000 Non-homologous end-joining 6 35 0 0 1 0 0 XYLB 9942 broad.mit.edu 37 3 38414169 38414169 + Silent SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:38414169C>G ENST00000207870.3 + 10 879 c.789C>G c.(787-789)gtC>gtG p.V263V XYLB_ENST00000542835.1_Silent_p.V126V NM_005108.3 NP_005099.2 O75191 XYLB_HUMAN xylulokinase homolog (H. influenzae) 263 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) CCTACTACGTCCAGCGCTACG 0.577000 25 52 0 0 1 0 0 MIR181A1 406995 broad.mit.edu 37 1 198828274 198828274 + RNA SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:198828274C>G ENST00000385026.1 - 0 8 NR_029626.1 GAAGCAACCTCAAAACTCAGA 0.383000 37 57 0 0 1 0 0 SSX3 10214 broad.mit.edu 37 X 48214673 48214673 + Silent SNP A A G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chrX:48214673A>G ENST00000298396.2 - 2 64 c.12T>C c.(10-12)gaT>gaC p.D4D SSX3_ENST00000376893.3_Silent_p.D4D NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 CAAAGGTGTCATCTCCGTTCA 0.517000 5 76 0 0 1 0 0 IL17RE 132014 broad.mit.edu 37 3 9957397 9957397 + Nonsense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:9957397G>A ENST00000295980.3 + 17 2027 c.1910G>A c.(1909-1911)tGg>tAg p.W637* IL17RE_ENST00000421412.1_Nonsense_Mutation_p.W670*|IL17RE_ENST00000383814.3_Nonsense_Mutation_p.W637*|IL17RE_ENST00000454190.2_3'UTR NM_153483.2 NP_705616.2 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E 637 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) GCCACCAGCTGGGGCCGCCTT 0.751000 6 13 0 0 1 0 0 NECAP2 55707 broad.mit.edu 37 1 16767292 16767292 + Silent SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:16767292C>G ENST00000337132.5 + 1 126 c.36C>G c.(34-36)gtC>gtG p.V12V NECAP2_ENST00000443980.2_Silent_p.V12V|NECAP2_ENST00000504551.2_Silent_p.V12V|NECAP2_ENST00000406746.1_Silent_p.V12V|NECAP2_ENST00000486390.1_3'UTR|NECAP2_ENST00000457722.2_Intron NM_001145278.1|NM_018090.4 NP_001138750.1|NP_060560.1 Q9NVZ3 NECP2_HUMAN NECAP endocytosis associated 2 12 endocytosis|protein transport clathrin vesicle coat|coated pit|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649) TGCTCTGTGTCAAGCCTGACG 0.627000 OREG0013136 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 28 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717989 142717989 + Silent SNP G G T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chrX:142717989G>T ENST00000381779.4 - 2 1161 c.936C>A c.(934-936)atC>atA p.I312I SLITRK4_ENST00000356928.1_Silent_p.I312I|SLITRK4_ENST00000338017.4_Silent_p.I312I NM_001184749.2|NM_001184750.1|NM_173078.4 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 312 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) CGATTCCAGAGATCTTGGAAG 0.468000 21 38 1.96292e-10 2.07262e-10 1 1 0 STXBP5L 9515 broad.mit.edu 37 3 121100143 121100143 + Missense_Mutation SNP A A C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:121100143A>C ENST00000273666.6 + 23 2694 c.2423A>C c.(2422-2424)aAc>aCc p.N808T STXBP5L_ENST00000472879.1_Missense_Mutation_p.N784T|STXBP5L_ENST00000497029.1_Missense_Mutation_p.N782T|STXBP5L_ENST00000492541.1_Missense_Mutation_p.N808T|STXBP5L_ENST00000471454.1_Missense_Mutation_p.N784T NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 808 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) TCCATAGAAAACCGAGAAAAT 0.289000 19 64 0 0 1 0 0 OLFML1 283298 broad.mit.edu 37 11 7530939 7530939 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr11:7530939G>A ENST00000329293.3 + 3 1123 c.729G>A c.(727-729)aaG>aaA p.K243K OLFML1_ENST00000530135.1_Silent_p.K243K|OLFML1_ENST00000528758.1_3'UTR|CTD-2516F10.2_ENST00000530201.1_RNA NM_198474.3 NP_940876.2 Q6UWY5 OLFL1_HUMAN olfactomedin-like 1 243 Olfactomedin-like. extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2) 24 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) ACCTGCAGAAGAGGACTGTGG 0.468000 6 26 0 0 1 0 0 MKLN1 4289 broad.mit.edu 37 7 131148049 131148049 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr7:131148049C>T ENST00000352689.6 + 13 1639 c.1599C>T c.(1597-1599)ctC>ctT p.L533L MKLN1_ENST00000421797.2_Silent_p.L441L|MKLN1_ENST00000498778.1_3'UTR NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs 533 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) TATCTGGACTCAGCAAAGATA 0.348000 65 116 0 0 1 0 0 AVPR1A 552 broad.mit.edu 37 12 63544456 63544456 + Missense_Mutation SNP T T C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr12:63544456T>C ENST00000299178.2 - 1 266 c.161A>G c.(160-162)gAg>gGg p.E54G NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 54 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) CACGGCGATCTCCAGTTTGGC 0.701000 7 38 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139876704 139876704 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr5:139876704C>T ENST00000297183.6 + 15 2969 c.2845C>T c.(2845-2847)Ctt>Ttt p.L949F ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L949F|ANKHD1_ENST00000462121.1_3'UTR|ANKHD1_ENST00000360839.2_Missense_Mutation_p.L949F 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) GACAAATTCTCTTGAACTTCA 0.433000 53 67 0 0 1 0 0 APPL2 55198 broad.mit.edu 37 12 105601821 105601821 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr12:105601821G>A ENST00000551662.1 - 7 490 c.420C>T c.(418-420)gtC>gtT p.V140V APPL2_ENST00000539978.2_Intron|APPL2_ENST00000258530.3_Intron Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 138 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 AAAATAAACAGACATCTGAAC 0.463000 28 62 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579591 7579591 + Splice_Site SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr17:7579591C>T ENST00000420246.2 - 4 229 c.e4-1 TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.?(8)|p.0?(8)|p.L35fs*10(3)|p.S33fs*10(1)|p.P13fs*18(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) GCAAGGGGGACTGTAGATGGG 0.592000 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) 103 41 0 0 1 0 0 THAP7 80764 broad.mit.edu 37 22 21354421 21354421 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr22:21354421G>A ENST00000215742.4 - 4 852 c.678C>T c.(676-678)atC>atT p.I226I THAP7_ENST00000399133.2_Silent_p.I226I NM_030573.2 NP_085050.2 Q9BT49 THAP7_HUMAN THAP domain containing 7 226 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1) 8 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GTTCATTCTGGATGTAGGCTC 0.667000 3 5 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89347738 89347738 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr16:89347738C>G ENST00000301030.4 - 9 5672 c.5212G>C c.(5212-5214)Gac>Cac p.D1738H ANKRD11_ENST00000378330.2_Missense_Mutation_p.D1738H NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1738 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TCGGCGCAGTCGAACACGAGG 0.667000 5 86 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114193678 114193678 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:114193678G>C ENST00000369615.1 + 14 2352 c.2290G>C c.(2290-2292)Gat>Cat p.D764H MAGI3_ENST00000369611.4_Missense_Mutation_p.D764H|MAGI3_ENST00000369617.4_Missense_Mutation_p.D789H|MAGI3_ENST00000307546.9_Missense_Mutation_p.D764H NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 789 Interaction with BAI1.|PDZ 4. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGCTGAGAAAGATGGTCGGCT 0.428000 21 30 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91726209 91726209 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr7:91726209G>A ENST00000359028.2 + 41 10173 c.9948G>A c.(9946-9948)atG>atA p.M3316I AKAP9_ENST00000358100.2_Missense_Mutation_p.M3262I|AKAP9_ENST00000356239.3_Missense_Mutation_p.M3312I Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3316 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTCGGGAAATGAGTAGTACCC 0.493000 T BRAF papillary thyroid 21 39 0 0 1 0 0 MAPK4 5596 broad.mit.edu 37 18 48248440 48248440 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr18:48248440G>A ENST00000400384.2 + 4 1860 c.824G>A c.(823-825)cGc>cAc p.R275H MAPK4_ENST00000540640.1_Missense_Mutation_p.R64H|MAPK4_ENST00000592595.1_Intron NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 275 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) AGGCCTCTGCGCAAGCTGCTC 0.607000 4 9 0 0 1 0 0 MORC3 23515 broad.mit.edu 37 21 37747543 37747543 + Silent SNP T T C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr21:37747543T>C ENST00000400485.1 + 17 2845 c.2769T>C c.(2767-2769)gaT>gaC p.D923D MORC3_ENST00000487909.1_3'UTR NM_015358.2 NP_056173.1 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 923 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 ATGTAGTTGATGAGATTTTAG 0.348000 11 148 0 0 1 0 0 NUDT22 84304 broad.mit.edu 37 11 63994387 63994387 + Missense_Mutation SNP G G T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr11:63994387G>T ENST00000279206.3 + 2 419 c.263G>T c.(262-264)cGa>cTa p.R88L NUDT22_ENST00000441250.2_Missense_Mutation_p.R88L NM_001128612.2|NM_032344.2 NP_001122084.1|NP_115720 Q9BRQ3 NUD22_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 22 88 hydrolase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 ACTTCCTACCGAGACTTCCTG 0.667000 17 25 3.41278e-10 3.58242e-10 1 1 0 WDR6 11180 broad.mit.edu 37 3 49051434 49051434 + Missense_Mutation SNP A A G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:49051434A>G ENST00000395474.3 + 2 2837 c.2557A>G c.(2557-2559)Agc>Ggc p.S853G WDR6_ENST00000608424.1_Missense_Mutation_p.S823G|WDR6_ENST00000448293.1_Missense_Mutation_p.S772G|WDR6_ENST00000415265.2_Missense_Mutation_p.S271G NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 823 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) TCCGGACCCCAGCACCCCAAG 0.622000 OREG0015565 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 60 0 0 1 0 0 GH2 2689 broad.mit.edu 37 17 61958104 61958104 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr17:61958104G>A ENST00000332800.7 - 4 617 c.484C>T c.(484-486)Cct>Tct p.P162S GH2_ENST00000449787.2_Intron|GH2_ENST00000423893.2_Intron|GH2_ENST00000456543.2_Intron NM_002059.4|NM_022557.3|NM_022558.3 NP_002050.1|NP_072051.1|NP_072052.1 P01242 SOM2_HUMAN growth hormone 2 161 extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 GGGGCCCCAGGATTGGGGATC 0.577000 17 76 0 0 1 0 0 ZNF222 7673 broad.mit.edu 37 19 44536546 44536546 + Missense_Mutation SNP A A G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr19:44536546A>G ENST00000187879.8 + 4 881 c.719A>G c.(718-720)cAc>cGc p.H240R ZNF222_ENST00000391960.3_Missense_Mutation_p.H280R|ZNF223_ENST00000591793.1_Intron NM_013360.2 NP_037492.2 Q9UK12 ZN222_HUMAN zinc finger protein 222 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Prostate(69;0.0435) GCTTTCATGCACAATTTCCAG 0.383000 11 358 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56712042 56712042 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr12:56712042C>T ENST00000425394.2 - 25 3929 c.3553G>A c.(3553-3555)Gag>Aag p.E1185K PAN2_ENST00000440411.3_Missense_Mutation_p.E1181K|PAN2_ENST00000257931.5_Missense_Mutation_p.E1184K|PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000548043.1_Missense_Mutation_p.E1185K NM_001127460.2 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 1185 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 GTTTGGCCCTCAGGCTCAGGC 0.498000 13 69 0 0 1 0 0 TRIM13 10206 broad.mit.edu 37 13 50586119 50586119 + Missense_Mutation SNP A A G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr13:50586119A>G ENST00000378182.3 + 2 781 c.43A>G c.(43-45)Agt>Ggt p.S15G TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000356017.4_Missense_Mutation_p.S18G|TRIM13_ENST00000298772.5_Missense_Mutation_p.S18G|TRIM13_ENST00000457662.2_Missense_Mutation_p.S15G|TRIM13_ENST00000420995.2_Missense_Mutation_p.S15G NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1 NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1 O60858 TRI13_HUMAN tripartite motif containing 13 15 anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination cytoplasm|endoplasmic reticulum membrane|integral to membrane protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205) TATTTGTTGTAGTCTGTTTGA 0.418000 28 91 0 0 1 0 0 USP36 57602 broad.mit.edu 37 17 76803502 76803502 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr17:76803502G>A ENST00000542802.3 - 14 2067 c.1624C>T c.(1624-1626)Cca>Tca p.P542S USP36_ENST00000449938.2_Missense_Mutation_p.P242S|USP36_ENST00000312010.6_Missense_Mutation_p.P542S Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) AAGTGCTGTGGAGGAGCTGGC 0.607000 10 25 0 0 1 0 0 OR8B4 283162 broad.mit.edu 37 11 124294259 124294259 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr11:124294259G>C ENST00000356130.3 - 1 530 c.509C>G c.(508-510)tCc>tGc p.S170C NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 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;0.0279) AATGACGTTGGAATCACAGAA 0.517000 14 10 0 0 1 0 0 SLFN13 146857 broad.mit.edu 37 17 33768282 33768282 + Nonsense_Mutation SNP C C A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr17:33768282C>A ENST00000285013.6 - 6 2301 c.2026G>T c.(2026-2028)Gaa>Taa p.E676* SLFN13_ENST00000542635.1_Nonsense_Mutation_p.E676*|SLFN13_ENST00000526861.1_Nonsense_Mutation_p.E676*|SLFN13_ENST00000534689.1_Nonsense_Mutation_p.E358*|SLFN13_ENST00000360502.2_Nonsense_Mutation_p.E358*|SLFN13_ENST00000533791.1_Nonsense_Mutation_p.E676* NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 676 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TCCCCATCTTCAGTACGGAAA 0.433000 45 84 6.68952e-21 7.34415e-21 1 1 0 RHOB 388 broad.mit.edu 37 2 20647740 20647740 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:20647740G>A ENST00000272233.4 + 1 906 c.514G>A c.(514-516)Gag>Aag p.E172K NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 172 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) CGAGGTCTTCGAGACGGCCAC 0.687000 19 46 0 0 1 0 0 BAP1 8314 broad.mit.edu 37 3 52442080 52442080 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:52442080G>C ENST00000460680.1 - 5 740 c.269C>G c.(268-270)tCt>tGt p.S90C BAP1_ENST00000296288.5_Missense_Mutation_p.S90C NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 90 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) AGTTGCACAAGAGTTGGGTAT 0.542000 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 9 10 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73225652 73225652 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr9:73225652C>T ENST00000377110.3 - 18 2747 c.2504G>A c.(2503-2505)cGa>cAa p.R835Q TRPM3_ENST00000357533.2_Missense_Mutation_p.R839Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.R682Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.R862Q|TRPM3_ENST00000360823.2_Missense_Mutation_p.R697Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.R707Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.R707Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.R694Q|TRPM3_ENST00000377111.2_Missense_Mutation_p.R835Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.R684Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.R694Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.R697Q Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 CCCGTTGTTTCGTCCCAACAT 0.458000 29 58 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56567542 56567542 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr12:56567542G>C ENST00000394023.3 - 17 1693 c.1588C>G c.(1588-1590)Cac>Gac p.H530D SMARCC2_ENST00000550164.1_Missense_Mutation_p.H530D|SMARCC2_ENST00000267064.4_Missense_Mutation_p.H530D|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.H530D NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 530 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) ACATGGAAGTGAGAGGTAGGC 0.582000 22 79 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39801024 39801024 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:39801024C>G ENST00000564288.1 + 37 9541 c.8764C>G c.(8764-8766)Cat>Gat p.H2922D MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.H1362D|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.H2959D|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.H2927D Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2927 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) AATTATTTCTCATATGAAGCA 0.328000 8 17 0 0 1 0 0 ALS2CL 259173 broad.mit.edu 37 3 46713517 46713517 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:46713517C>T ENST00000318962.4 - 24 2624 c.2541G>A c.(2539-2541)acG>acA p.T847T ALS2CL_ENST00000415953.1_Silent_p.T847T|ALS2CL_ENST00000383742.3_Silent_p.T194T NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 847 VPS9. endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) GTGGGTCCACCGTGGTCCTGC 0.637000 25 46 0 0 1 0 0 NKAIN2 154215 broad.mit.edu 37 6 125139570 125139570 + Missense_Mutation SNP A A C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr6:125139570A>C ENST00000368417.1 + 6 633 c.573A>C c.(571-573)caA>caC p.Q191H NKAIN2_ENST00000546092.1_Missense_Mutation_p.Q124H|NKAIN2_ENST00000545433.1_Missense_Mutation_p.Q176H NM_001040214.1 NP_001035304.1 Q5VXU1 NKAI2_HUMAN Na+/K+ transporting ATPase interacting 2 191 integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) ATGGCTATCAAGGGCCTCAGA 0.373000 11 35 0 0 1 0 0 NRG3 10718 broad.mit.edu 37 10 83635727 83635727 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr10:83635727C>T ENST00000404547.1 + 1 631 c.631C>T c.(631-633)Ccg>Tcg p.P211S NRG3_ENST00000372141.2_Missense_Mutation_p.P211S P56975 NRG3_HUMAN neuregulin 3 211 Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) CTCCCGACCCCCGGTGCCAGG 0.662000 4 14 0 0 1 0 0 G3BP2 9908 broad.mit.edu 37 4 76582810 76582810 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr4:76582810G>A ENST00000359707.4 - 4 1067 c.282C>T c.(280-282)gtC>gtT p.V94V G3BP2_ENST00000395719.3_Silent_p.V94V|G3BP2_ENST00000357854.3_Silent_p.V94V|G3BP2_ENST00000502654.1_5'UTR NM_203505.2 NP_987101.1 Q9UN86 G3BP2_HUMAN GTPase activating protein (SH3 domain) binding protein 2 94 NTF2. cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GCAAACCCATGACCTGGACAA 0.388000 40 58 0 0 1 0 0 PLEKHG7 440107 broad.mit.edu 37 12 93157832 93157832 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr12:93157832G>C ENST00000344636.3 + 10 980 c.796G>C c.(796-798)Gac>Cac p.D266H NM_001004330.2 NP_001004330.1 Q6ZR37 PKHG7_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 7 266 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1) 17 TGGAGGCTCAGACCCTGGTTT 0.368000 15 47 0 0 1 0 0 GLDC 2731 broad.mit.edu 37 9 6602111 6602111 + Nonsense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr9:6602111G>A ENST00000321612.6 - 8 1303 c.1153C>T c.(1153-1155)Cag>Tag p.Q385* NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 385 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TGATTTACCTGAGCTGTACAG 0.443000 113 145 0 0 1 0 0 ZNF662 389114 broad.mit.edu 37 3 42956049 42956049 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:42956049G>C ENST00000541208.1 + 5 853 c.484G>C c.(484-486)Gag>Cag p.E162Q ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.E162Q|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.E188Q Q6ZS27 ZN662_HUMAN zinc finger protein 662 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) TGTCAAGGATGAGATGATCTC 0.378000 23 30 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226446847 226446847 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:226446847C>T ENST00000272907.6 + 4 1127 c.714C>T c.(712-714)ccC>ccT p.P238P NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 238 p.P238P(1) CGGGAGACCCCGAGGAAGAGG 0.592000 20 47 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20057559 20057559 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr11:20057559C>T ENST00000396085.1 + 12 3184 c.2823C>T c.(2821-2823)ctC>ctT p.L941L NAV2_ENST00000396087.3_Silent_p.L964L|NAV2_ENST00000527559.2_Silent_p.L893L|NAV2_ENST00000533917.1_Silent_p.L27L|NAV2_ENST00000311043.8_Silent_p.L27L|NAV2_ENST00000540292.1_Silent_p.L895L|NAV2_ENST00000349880.4_Silent_p.L941L|NAV2_ENST00000360655.4_Silent_p.L877L NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 964 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TAGACAACCTCAGCACTGATG 0.547000 17 17 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146269463 146269463 + Nonsense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr6:146269463G>A ENST00000367503.3 - 5 1404 c.1006C>T c.(1006-1008)Cga>Tga p.R336* SHPRH_ENST00000275233.7_Nonsense_Mutation_p.R336*|SHPRH_ENST00000438092.2_Nonsense_Mutation_p.R336*|SHPRH_ENST00000367505.2_Nonsense_Mutation_p.R336* NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 336 Helicase ATP-binding; first part. 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) ACAATCTCTCGCCATAAGAAG 0.294000 16 45 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 3 35 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33545249 33545249 + Missense_Mutation SNP C C A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr7:33545249C>A ENST00000242067.6 + 20 2811 c.2290C>A c.(2290-2292)Caa>Aaa p.Q764K BBS9_ENST00000355070.2_Missense_Mutation_p.Q759K|BBS9_ENST00000354265.4_Missense_Mutation_p.Q729K|BBS9_ENST00000396127.2_Missense_Mutation_p.Q729K|BBS9_ENST00000350941.3_Missense_Mutation_p.Q724K NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 764 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) AGAAGACACTCAAGAATTGGT 0.478000 Bardet-Biedl syndrome 8 26 5.18039e-06 5.26844e-06 1 1 0 CNTN4 152330 broad.mit.edu 37 3 3097891 3097891 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:3097891G>C ENST00000397461.1 + 24 3452 c.3068G>C c.(3067-3069)aGg>aCg p.R1023T CNTN4_ENST00000427331.1_Missense_Mutation_p.R1023T|CNTN4_ENST00000448906.2_Missense_Mutation_p.R695T|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000358480.3_Missense_Mutation_p.R804T|CNTN4_ENST00000418658.1_Missense_Mutation_p.R1023T|CNTN4_ENST00000397459.2_Missense_Mutation_p.R695T NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 1023 axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CTCACAGCTAGGTCCAGTTTA 0.403000 14 28 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200972881 200972881 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:200972881G>A ENST00000332129.2 - 8 1361 c.1045C>T c.(1045-1047)Ccc>Tcc p.P349S KIF21B_ENST00000461742.2_Missense_Mutation_p.P349S|KIF21B_ENST00000360529.5_Missense_Mutation_p.P349S|KIF21B_ENST00000422435.2_Missense_Mutation_p.P349S NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 349 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CGGTCTGAGGGGCTCACACAG 0.557000 10 41 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27537382 27537382 + RNA SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr10:27537382C>G ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA AGAATGTTCTCAATTGTTGTA 0.408000 169 90 0 0 1 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105420777 105420777 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr10:105420777C>T ENST00000369774.4 - 8 844 c.568G>A c.(568-570)Ggg>Agg p.G190R SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.G57R|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.G25R|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.G190R|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.G52R Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 190 SH3 1. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) ACCACCTCCCCGGCCTGGAGG 0.642000 17 69 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70643044 70643044 + Missense_Mutation SNP C C A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chrX:70643044C>A ENST00000449580.1 + 30 4578 c.4527C>A c.(4525-4527)ttC>ttA p.F1509L TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000276072.3_Missense_Mutation_p.F1530L|TAF1_ENST00000373790.4_Missense_Mutation_p.F1509L|TAF1_ENST00000423759.1_Missense_Mutation_p.F1530L P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 1509 Interaction with ASF1A and ASF1B.|Protein kinase 2. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) CGTTTTCTTTCATTCTGGACA 0.428000 42 11 3.38236e-24 3.7362e-24 1 1 0 MUC16 94025 broad.mit.edu 37 19 9047186 9047186 + Missense_Mutation SNP G G T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr19:9047186G>T ENST00000397910.4 - 5 34648 c.34445C>A c.(34444-34446)cCa>cAa p.P11482Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11484 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGTTCATATGGGGTCTCCGT 0.502000 17 72 6.33239e-15 6.86806e-15 1 1 0 C17orf66 256957 broad.mit.edu 37 17 34182150 34182150 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr17:34182150G>C ENST00000311880.2 - 15 1778 c.1630C>G c.(1630-1632)Cga>Gga p.R544G C17orf66_ENST00000592980.1_Missense_Mutation_p.R504G NM_152781.2 NP_689994.2 A2RTY3 CQ066_HUMAN chromosome 17 open reading frame 66 544 binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4) 38 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) CTATGTTTTCGTGGTTTCGAG 0.493000 5 120 0 0 1 0 0 ARMCX6 54470 broad.mit.edu 37 X 100871235 100871235 + Missense_Mutation SNP C C A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chrX:100871235C>A ENST00000539247.1 - 4 808 c.376G>T c.(376-378)Gac>Tac p.D126Y ARMCX6_ENST00000538627.1_Missense_Mutation_p.D126Y|ARMCX6_ENST00000361910.4_Missense_Mutation_p.D126Y|ARMCX6_ENST00000497931.1_Intron NM_001184768.1 NP_001171697.1 Q7L4S7 ARMX6_HUMAN armadillo repeat containing, X-linked 6 126 integral to membrane endometrium(3)|kidney(1)|liver(2)|lung(3) 9 TTGGAGAGGTCCAGAACACAA 0.458000 7 77 5.18039e-06 5.26844e-06 1 1 0 USP34 9736 broad.mit.edu 37 2 61456758 61456758 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:61456758C>T ENST00000398571.2 - 59 7200 c.7124G>A c.(7123-7125)cGt>cAt p.R2375H NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 2375 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) GATACACAAACGCTGAAACAT 0.383000 31 106 0 0 1 0 0 SIRT7 51547 broad.mit.edu 37 17 79872379 79872379 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr17:79872379C>T ENST00000328666.6 - 7 669 c.607G>A c.(607-609)Gag>Aag p.E203K NM_016538.2 NP_057622.1 Q9NRC8 SIRT7_HUMAN sirtuin 7 203 Deacetylase sirtuin-type. chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription cytoplasm|nucleolus organizer region hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CGCACGTACTCCCTGTTGGGA 0.642000 23 48 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70905850 70905850 + Nonsense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:70905850G>A ENST00000264436.4 - 11 1813 c.1369C>T c.(1369-1371)Cga>Tga p.R457* ADD2_ENST00000430656.1_Nonsense_Mutation_p.R473*|ADD2_ENST00000355733.3_Nonsense_Mutation_p.R457*|ADD2_ENST00000407644.2_Nonsense_Mutation_p.R457*|ADD2_ENST00000413157.2_Nonsense_Mutation_p.R457* NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 GTCTTGGGTCGGGGGCTGCCC 0.597000 270 101 0 0 1 0 0 MRPS7 51081 broad.mit.edu 37 17 73258010 73258010 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr17:73258010G>A ENST00000579761.1 + 1 256 c.29G>A c.(28-30)cGa>cAa p.R10Q GGA3_ENST00000578348.1_Intron|MRPS7_ENST00000579002.1_5'UTR|GGA3_ENST00000582486.1_Intron|GGA3_ENST00000582717.1_Intron|MRPS7_ENST00000245539.6_Missense_Mutation_p.R10Q|GGA3_ENST00000579743.1_Intron Q9Y2R9 RT07_HUMAN mitochondrial ribosomal protein S7 10 translation cytosolic small ribosomal subunit|mitochondrion protein binding|RNA binding|structural constituent of ribosome breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2) 6 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) AAGGTTGCCCGAGGATGGTCG 0.697000 8 10 0 0 1 0 0 PDSS1 23590 broad.mit.edu 37 10 26998639 26998639 + Nonsense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr10:26998639C>T ENST00000376215.5 + 5 462 c.409C>T c.(409-411)Cga>Tga p.R137* PDSS1_ENST00000376203.5_Nonsense_Mutation_p.R137* NM_014317.3 NP_055132.2 Q5T2R2 DPS1_HUMAN prenyl (decaprenyl) diphosphate synthase, subunit 1 137 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion metal ion binding|protein heterodimerization activity autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1) 21 GAAAGCCTTTCGACCAATTAT 0.383000 26 407 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178937518 178937518 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:178937518G>C ENST00000263967.3 + 12 2063 c.1906G>C c.(1906-1908)Gta>Cta p.V636L NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 636 PI3K helical. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATTCAGCTAGTACAGGtaaa 0.299000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 4 29 0 0 1 0 0 USP47 55031 broad.mit.edu 37 11 11941735 11941735 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr11:11941735G>C ENST00000339865.5 + 8 1561 c.798G>C c.(796-798)gaG>gaC p.E266D USP47_ENST00000399455.2_Missense_Mutation_p.E354D|USP47_ENST00000527733.1_Missense_Mutation_p.E334D|USP47_ENST00000539466.1_5'UTR NM_017944.3 NP_060414.3 Q96K76 UBP47_HUMAN ubiquitin specific peptidase 47 354 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 Epithelial(150;0.000339) TTCAGCCAGAGATTCTGGATG 0.308000 11 41 0 0 1 0 0 ADD1 118 broad.mit.edu 37 4 2896391 2896391 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr4:2896391C>G ENST00000355842.3 + 7 1537 c.674C>G c.(673-675)tCt>tGt p.S225C ADD1_ENST00000398123.2_Missense_Mutation_p.S225C|ADD1_ENST00000503455.2_Missense_Mutation_p.S225C|ADD1_ENST00000264758.7_Missense_Mutation_p.S225C|ADD1_ENST00000398129.1_Missense_Mutation_p.S225C|ADD1_ENST00000513328.2_Missense_Mutation_p.S225C|ADD1_ENST00000398125.1_Missense_Mutation_p.S225C|ADD1_ENST00000446856.1_Missense_Mutation_p.S225C P35611 ADDA_HUMAN adducin 1 (alpha) 225 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACCTTACACTCTGCAATTTAT 0.493000 22 22 0 0 1 0 0 KRTAP4-12 83755 broad.mit.edu 37 17 39280060 39280060 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr17:39280060G>C ENST00000394014.1 - 1 359 c.315C>G c.(313-315)tgC>tgG p.C105W NM_031854.2 NP_114060.1 Q9BQ66 KR412_HUMAN keratin associated protein 4-12 105 31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC]. Missing (in allele KAP4.12-v1). keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGTCTGACAGCAGCTGGGGC 0.677000 19 61 0 0 1 0 0 KHNYN 23351 broad.mit.edu 37 14 24901328 24901328 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr14:24901328C>T ENST00000251343.5 + 3 1000 c.861C>T c.(859-861)ctC>ctT p.L287L KHNYN_ENST00000556842.1_Silent_p.L287L|KHNYN_ENST00000553935.1_Silent_p.L287L O15037 KHNYN_HUMAN KH and NYN domain containing 287 kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3) 24 AAGTGGCCCTCAGGCCACAGT 0.627000 OREG0022627 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 LRGUK 136332 broad.mit.edu 37 7 133812133 133812133 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr7:133812133G>C ENST00000285928.2 + 1 82 c.13G>C c.(13-15)Gag>Cag p.E5Q LRGUK_ENST00000473068.1_3'UTR NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 5 ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 GGCGACCTCCGAGAGGGCTCT 0.612000 37 96 0 0 1 0 0 HNRNPLL 92906 broad.mit.edu 37 2 38791380 38791380 + Splice_Site SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:38791380C>G ENST00000449105.3 - 13 1913 c.e13-1 HNRNPLL_ENST00000608859.1_Splice_Site|HNRNPLL_ENST00000409328.1_Splice_Site|HNRNPLL_ENST00000409636.1_Splice_Site|HNRNPLL_ENST00000378915.3_Splice_Site heterogeneous nuclear ribonucleoprotein L-like TTGGAACCATCTGTAAAAAGT 0.284000 16 59 0 0 1 0 0 PGAP1 80055 broad.mit.edu 37 2 197763065 197763065 + Nonsense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:197763065G>C ENST00000354764.4 - 6 950 c.836C>G c.(835-837)tCa>tGa p.S279* PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409475.1_Nonsense_Mutation_p.S279*|PGAP1_ENST00000409188.1_Nonsense_Mutation_p.S237* NM_024989.3 NP_079265.2 Q75T13 PGAP1_HUMAN post-GPI attachment to proteins 1 attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 GTGGTCTGTTGAGACCCAGGT 0.348000 11 19 0 0 1 0 0 SYDE1 85360 broad.mit.edu 37 19 15224742 15224742 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr19:15224742G>C ENST00000600252.1 + 5 2789 c.1147G>C c.(1147-1149)Gag>Cag p.E383Q SYDE1_ENST00000600440.1_Missense_Mutation_p.E659Q|SYDE1_ENST00000342784.2_Missense_Mutation_p.E726Q Q6ZW31 SYDE1_HUMAN synapse defective 1, Rho GTPase, homolog 1 (C. elegans) 726 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1) 17 TCTGGAGAGAGAGCTCTCCAA 0.607000 22 94 0 0 1 0 0 SH3D19 152503 broad.mit.edu 37 4 152069243 152069243 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr4:152069243G>C ENST00000409598.4 - 11 2240 c.1073C>G c.(1072-1074)tCt>tGt p.S358C SH3D19_ENST00000427414.2_Missense_Mutation_p.S322C|SH3D19_ENST00000514152.1_Missense_Mutation_p.S358C|SH3D19_ENST00000409252.2_Missense_Mutation_p.S358C|SH3D19_ENST00000455740.1_Missense_Mutation_p.S358C|SH3D19_ENST00000304527.4_Missense_Mutation_p.S358C|SH3D19_ENST00000424281.1_Missense_Mutation_p.S322C Q5HYK7 SH319_HUMAN SH3 domain containing 19 358 Interaction with SH3GL1. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) TTTCTTATTAGATCTTCTGGT 0.443000 30 42 0 0 1 0 0 MESDC2 23184 broad.mit.edu 37 15 81274463 81274463 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr15:81274463C>G ENST00000261758.4 - 2 360 c.274G>C c.(274-276)Gac>Cac p.D92H NM_015154.1 NP_055969.1 Q14696 MESD_HUMAN mesoderm development candidate 2 92 Chaperone domain (By similarity). mesoderm development|protein folding|Wnt receptor signaling pathway endoplasmic reticulum cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1) 8 TTTGAGAAGTCGACAGGTGCT 0.418000 21 128 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39010000 39010000 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr19:39010000G>C ENST00000355481.4 + 67 10296 c.10165G>C c.(10165-10167)Gag>Cag p.E3389Q RYR1_ENST00000360985.3_Missense_Mutation_p.E3389Q|RYR1_ENST00000359596.3_Missense_Mutation_p.E3389Q NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3389 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGAGGCCCAGGAGGGCGAGCT 0.657000 3 25 0 0 1 0 0 MMP24 10893 broad.mit.edu 37 20 33862349 33862349 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr20:33862349C>T ENST00000246186.6 + 9 1960 c.1875C>T c.(1873-1875)ttC>ttT p.F625F MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|EDEM2_ENST00000540582.1_Intron|RP4-614O4.11_ENST00000444717.1_RNA NM_006690.3 NP_006681.1 Q9Y5R2 MMP24_HUMAN matrix metallopeptidase 24 (membrane-inserted) 625 proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5) 14 BRCA - Breast invasive adenocarcinoma(18;0.00252) TCTTCCAGTTCAAGAACAAGA 0.592000 9 20 0 0 1 0 0 NR1H3 10062 broad.mit.edu 37 11 47281380 47281380 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr11:47281380G>A ENST00000467728.1 + 2 1320 c.82G>A c.(82-84)Gca>Aca p.A28T NR1H3_ENST00000481889.2_5'UTR|NR1H3_ENST00000407404.1_Missense_Mutation_p.A28T|NR1H3_ENST00000405576.1_5'UTR|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.A28T|NR1H3_ENST00000405853.3_Missense_Mutation_p.A28T|NR1H3_ENST00000395397.3_5'UTR Q13133 NR1H3_HUMAN nuclear receptor subfamily 1, group H, member 3 28 apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis nuclear chromatin|nucleoplasm cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5) 20 CGCACAGGATGCAAGCAGCCA 0.672000 OREG0020956 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 26 0 0 1 0 0 DNM1P46 196968 broad.mit.edu 37 15 100340031 100340031 + RNA SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr15:100340031G>A ENST00000341853.1 - 0 895 NR_003260.1 CAGCAGCTCTGAGAAGATGAA 0.612000 11 23 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1559174 1559174 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr20:1559174C>G ENST00000381605.4 - 2 307 c.243G>C c.(241-243)caG>caC p.Q81H SIRPB1_ENST00000381603.3_Missense_Mutation_p.Q81H|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.Q81H|SIRPB1_ENST00000262929.5_Missense_Mutation_p.Q80H NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 81 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GGCCTTCTTTCTGATTGTAGA 0.517000 13 108 0 0 1 0 0 MEIS2 4212 broad.mit.edu 37 15 37390328 37390328 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr15:37390328C>T ENST00000338564.5 - 3 531 c.85G>A c.(85-87)Gcg>Acg p.A29T MEIS2_ENST00000559561.1_Missense_Mutation_p.A29T|MEIS2_ENST00000561208.1_Missense_Mutation_p.A29T|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000340545.5_Missense_Mutation_p.A16T|MEIS2_ENST00000559085.1_Missense_Mutation_p.A16T|MEIS2_ENST00000424352.2_Missense_Mutation_p.A29T|MEIS2_ENST00000444725.1_Missense_Mutation_p.A29T|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000557796.2_Missense_Mutation_p.A16T|MEIS2_ENST00000382766.2_Missense_Mutation_p.A29T NM_001220482.1 NP_001207411.1 O14770 MEIS2_HUMAN Meis homeobox 2 29 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) GGCCGCGGCGCGTGAGGGTCT 0.692000 7 16 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 8 8 0 0 1 0 0 DAGLB 221955 broad.mit.edu 37 7 6456353 6456353 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr7:6456353G>A ENST00000297056.6 - 11 1501 c.1332C>T c.(1330-1332)ctC>ctT p.L444L DAGLB_ENST00000425398.2_Silent_p.L315L|DAGLB_ENST00000436575.1_Silent_p.L403L|DAGLB_ENST00000421761.2_Silent_p.L188L|DAGLB_ENST00000428902.2_Silent_p.L317L NM_139179.3 NP_631918.3 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta 444 lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2) 26 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) CCCCGCCCCCGAGGCTGTGGC 0.627000 8 31 0 0 1 0 0 CATSPER4 378807 broad.mit.edu 37 1 26524494 26524494 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:26524494C>T ENST00000456354.2 + 5 671 c.604C>T c.(604-606)Cgg>Tgg p.R202W NM_198137.1 NP_937770.1 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 202 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) GCCCCTCGCCCGGATCATCCG 0.652000 20 71 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170019075 170019075 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:170019075C>T ENST00000263816.3 - 63 12079 c.11794G>A c.(11794-11796)Gaa>Aaa p.E3932K NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3932 LDL-receptor class A 36. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CACTTATATTCATATTCTGTA 0.388000 9 50 0 0 1 0 0 RPL8 6132 broad.mit.edu 37 8 146015295 146015295 + Missense_Mutation SNP G G T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr8:146015295G>T ENST00000262584.3 - 6 900 c.668C>A c.(667-669)tCc>tAc p.S223Y RPL8_ENST00000529163.1_5'UTR|RPL8_ENST00000394920.2_Missense_Mutation_p.S223Y|RPL8_ENST00000528957.1_Missense_Mutation_p.S223Y|RPL8_ENST00000527914.1_Missense_Mutation_p.S114Y NM_000973.3 NP_000964.1 P62917 RL8_HUMAN ribosomal protein L8 223 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit rRNA binding|structural constituent of ribosome kidney(12)|lung(7)|prostate(1) 20 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.191) GCGGATGGTGGAGGGCTTGCC 0.607000 24 88 1.68575e-08 1.74909e-08 1 1 0 FGF9 2254 broad.mit.edu 37 13 22275368 22275368 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr13:22275368G>A ENST00000382353.5 + 3 951 c.421G>A c.(421-423)Gaa>Aaa p.E141K FGF9_ENST00000478546.1_3'UTR NM_002010.2 NP_002001.1 P31371 FGF9_HUMAN fibroblast growth factor 9 141 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division extracellular space growth factor activity|heparin binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2) 9 all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106) all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163) AGAACAGTTCGAAGAAAACTG 0.388000 9 25 0 0 1 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138764623 138764623 + Nonsense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr7:138764623G>C ENST00000242351.5 - 4 1380 c.1064C>G c.(1063-1065)tCa>tGa p.S355* ZC3HAV1_ENST00000471652.1_Nonsense_Mutation_p.S355*|ZC3HAV1_ENST00000464606.1_Nonsense_Mutation_p.S355* NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 355 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 GTTGGGGGCTGATGTTGAATT 0.542000 35 92 0 0 1 0 0 AQP5 362 broad.mit.edu 37 12 50355910 50355910 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr12:50355910C>T ENST00000293599.6 + 1 258 c.110C>T c.(109-111)tCg>tTg p.S37L RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA NM_001651.2 NP_001642.1 P55064 AQP5_HUMAN aquaporin 5 37 carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion apical plasma membrane|integral to plasma membrane protein binding|water channel activity large_intestine(1)|lung(3) 4 AAGTGGCCGTCGGCGCTGCCT 0.667000 12 25 0 0 1 0 0 FAM83D 81610 broad.mit.edu 37 20 37580732 37580732 + Nonsense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr20:37580732C>T ENST00000217429.4 + 4 1458 c.1417C>T c.(1417-1419)Cag>Tag p.Q473* NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 443 Ser-rich. cell division|mitosis cytoplasm|spindle pole p.Q473*(1) endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) GACCACTACTCAGACTGACAT 0.468000 21 52 0 0 1 0 0 ZNF680 340252 broad.mit.edu 37 7 63981739 63981739 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr7:63981739C>T ENST00000309683.6 - 4 1544 c.1393G>A c.(1393-1395)Gat>Aat p.D465N NM_178558.4 NP_848653.2 Q8NEM1 ZN680_HUMAN zinc finger protein 680 465 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 27 Lung NSC(55;0.118)|all_lung(88;0.243) CCACATTCATCACATTTGTAG 0.363000 20 39 0 0 1 0 0 RHCG 51458 broad.mit.edu 37 15 90026313 90026313 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr15:90026313G>A ENST00000268122.4 - 3 575 c.507C>T c.(505-507)ctC>ctT p.L169L RHCG_ENST00000544600.1_Silent_p.L169L NM_016321.1 NP_057405.1 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 169 amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(78;0.0237)|all_lung(78;0.0478) GCAGGTTAAGGAGAATGAACT 0.537000 31 74 0 0 1 0 0 SGPL1 8879 broad.mit.edu 37 10 72633176 72633176 + Missense_Mutation SNP C C A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr10:72633176C>A ENST00000373202.3 + 12 1328 c.1128C>A c.(1126-1128)ttC>ttA p.F376L NM_003901.3 NP_003892.2 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 376 apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity large_intestine(4) 4 Pyridoxal Phosphate(DB00114) ACTATCAGTTCTTCGTCGATA 0.507000 30 65 1.13719e-10 1.20784e-10 1 1 0 ZNF423 23090 broad.mit.edu 37 16 49672370 49672370 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr16:49672370G>A ENST00000561648.1 - 4 746 c.693C>T c.(691-693)ttC>ttT p.F231F ZNF423_ENST00000562871.1_Silent_p.F171F|ZNF423_ENST00000535559.1_Silent_p.F114F|ZNF423_ENST00000562520.1_Silent_p.F171F|ZNF423_ENST00000262383.2_Silent_p.F231F|ZNF423_ENST00000563137.2_Silent_p.F171F|ZNF423_ENST00000567169.1_Silent_p.F114F NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 231 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) TGGTGGAGGAGAAGCCGCGCT 0.582000 18 24 0 0 1 0 0 POLA2 23649 broad.mit.edu 37 11 65036196 65036196 + Nonsense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr11:65036196C>G ENST00000265465.3 + 4 881 c.350C>G c.(349-351)tCa>tGa p.S117* POLA2_ENST00000541089.1_5'UTR NM_002689.2 NP_002680.2 Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 117 Pro/Ser/Thr-rich. DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) ACCACACCTTCAAAGGTAAGT 0.363000 31 65 0 0 1 0 0 DEAF1 10522 broad.mit.edu 37 11 688404 688404 + Silent SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr11:688404C>G ENST00000382409.3 - 3 928 c.444G>C c.(442-444)ctG>ctC p.L148L DEAF1_ENST00000338675.6_Silent_p.L148L NM_021008.2 NP_066288.2 O75398 DEAF1_HUMAN DEAF1 transcription factor 148 embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|extracellular region|nucleus protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) GGACGACAATCAGTGTCGCTT 0.612000 7 21 0 0 1 0 0 ACAP2 23527 broad.mit.edu 37 3 195063206 195063206 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:195063206C>T ENST00000326793.6 - 6 752 c.522G>A c.(520-522)gtG>gtA p.V174V NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 174 BAR. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 ATACCTGAAGCACATAATCGA 0.368000 37 39 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73678167 73678167 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:73678167G>A ENST00000264448.6 + 8 4621 c.4510G>A c.(4510-4512)Gct>Act p.A1504T ALMS1_ENST00000377715.1_Missense_Mutation_p.A1504T|ALMS1_ENST00000409009.1_Missense_Mutation_p.A1462T NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1504 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 AGTTTCAGTTGCTCCTGGACC 0.483000 102 40 0 0 1 0 0 SLC19A2 10560 broad.mit.edu 37 1 169435106 169435106 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:169435106G>C ENST00000236137.5 - 6 1711 c.1475C>G c.(1474-1476)tCt>tGt p.S492C SLC19A2_ENST00000367804.4_Missense_Mutation_p.S291C NM_006996.2 NP_008927.1 O60779 S19A2_HUMAN solute carrier family 19 (thiamine transporter), member 2 492 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.208) GGTTACTTGAGAACTTGATTG 0.413000 56 65 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22804440 22804440 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr18:22804440C>G ENST00000361524.3 - 4 3590 c.3442G>C c.(3442-3444)Gag>Cag p.E1148Q ZNF521_ENST00000538137.2_Missense_Mutation_p.E1148Q|ZNF521_ENST00000584787.1_Missense_Mutation_p.E928Q NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1148 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CTTTCAGACTCAAACTTAACG 0.517000 T PAX5 ALL 33 24 0 0 1 0 0 ERAP1 51752 broad.mit.edu 37 5 96127784 96127784 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr5:96127784C>G ENST00000296754.3 - 8 1557 c.1300G>C c.(1300-1302)Gat>Cat p.D434H ERAP1_ENST00000443439.2_Missense_Mutation_p.D434H NM_016442.3 NP_057526.3 Q9NZ08 ERAP1_HUMAN endoplasmic reticulum aminopeptidase 1 434 angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2) 19 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) GAAACATCATCAAACATCTCC 0.388000 10 34 0 0 1 0 0 GMCL1 64395 broad.mit.edu 37 2 70064691 70064691 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:70064691G>C ENST00000282570.3 + 2 524 c.273G>C c.(271-273)aaG>aaC p.K91N GMCL1_ENST00000468386.2_3'UTR NM_178439.3 NP_848526.1 Q96IK5 GMCL1_HUMAN germ cell-less, spermatogenesis associated 1 91 cell differentiation|multicellular organismal development|spermatogenesis nuclear matrix endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 15 AAAAATTAAAGAGTACATCTA 0.244000 8 5 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33643548 33643548 + Missense_Mutation SNP C C A rs138321976 TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr5:33643548C>A ENST00000504830.1 - 10 1842 c.1507G>T c.(1507-1509)Gtg>Ttg p.V503L ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V503L|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 503 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.V503L(2) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 AAGCCCTTCACGGAGCACCAC 0.468000 HNSCC(64;0.19) 14 44 4.93089e-13 5.29997e-13 1 1 0 DMP1 1758 broad.mit.edu 37 4 88583927 88583927 + Missense_Mutation SNP G G A rs147275271 byFrequency TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr4:88583927G>A ENST00000339673.6 + 6 1096 c.997G>A c.(997-999)Gta>Ata p.V333I RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.V317I NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 333 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) GAGCCAAAACGTAGATGGTCC 0.547000 18 30 0 0 1 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143577 61143577 + RNA SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr20:61143577G>A ENST00000475015.1 - 0 761 C20orf166-AS1_ENST00000412495.1_RNA AGGGGATTGGGATGCCGCCTG 0.652000 5 27 0 0 1 0 0 TNPO3 23534 broad.mit.edu 37 7 128640615 128640615 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr7:128640615C>T ENST00000393245.1 - 7 1252 c.879G>A c.(877-879)ctG>ctA p.L293L TNPO3_ENST00000265388.5_Silent_p.L293L|TNPO3_ENST00000471166.1_Silent_p.L293L|TNPO3_ENST00000471234.1_Silent_p.L293L|TNPO3_ENST00000482320.1_Silent_p.L227L NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 293 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 GGCAGTAATTCAGAACTCTGT 0.383000 18 37 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 3 27 0.000602214 0.000605588 1 1 0 IRGQ 126298 broad.mit.edu 37 19 44097129 44097129 + Silent SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr19:44097129G>C ENST00000422989.1 - 3 1076 c.921C>G c.(919-921)gcC>gcG p.A307A IRGQ_ENST00000602269.1_Silent_p.A307A|IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Silent_p.A20A NM_001007561.2 NP_001007562.1 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 307 protein binding endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3) 18 Prostate(69;0.0199) TCTCAGTGGGGGCCCCAGGGG 0.692000 4 78 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113448262 113448262 + Silent SNP G G T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr12:113448262G>T ENST00000342315.4 + 11 2347 c.2133G>T c.(2131-2133)ctG>ctT p.L711L OAS2_ENST00000392583.2_3'UTR|RP1-71H24.1_ENST00000552784.1_RNA NM_016817.2 NP_058197.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 711 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 ATAGAATCCTGAATAATAATT 0.398000 69 90 1.1794e-34 1.30681e-34 1 1 0 TAF3 83860 broad.mit.edu 37 10 8055784 8055784 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr10:8055784G>A ENST00000344293.5 + 6 2865 c.2659G>A c.(2659-2661)Gat>Aat p.D887N NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 887 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 TGACGACTGCGATGACTGGTA 0.567000 12 337 0 0 1 0 0 ACAD9 28976 broad.mit.edu 37 3 128618238 128618238 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:128618238G>C ENST00000308982.7 + 7 823 c.742G>C c.(742-744)Gaa>Caa p.E248Q ACAD9_ENST00000511526.1_3'UTR NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 248 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 ATTCATAGTAGAAAGAGACTT 0.453000 21 68 0 0 1 0 0 DYM 54808 broad.mit.edu 37 18 46889544 46889544 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr18:46889544C>T ENST00000269445.6 - 6 938 c.481G>A c.(481-483)Gat>Aat p.D161N DYM_ENST00000578396.1_Missense_Mutation_p.D6N|DYM_ENST00000442713.2_Intron NM_017653.3 NP_060123.3 Q7RTS9 DYM_HUMAN dymeclin 161 Golgi apparatus NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 AGTGGAATATCAGTGATCAAC 0.358000 42 31 0 0 1 0 0 STAT5B 6777 broad.mit.edu 37 17 40369467 40369467 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr17:40369467C>G ENST00000293328.3 - 10 1353 c.1185G>C c.(1183-1185)gaG>gaC p.E395D NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 395 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) TGTTCAAGATCTCGCCACTGT 0.493000 13 52 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4716886 4716886 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:4716886G>A ENST00000302640.8 + 22 3038 c.2688G>A c.(2686-2688)gcG>gcA p.A896A ITPR1_ENST00000456211.2_Silent_p.A896A|ITPR1_ENST00000357086.4_Silent_p.A911A|ITPR1_ENST00000443694.2_Silent_p.A896A|ITPR1_ENST00000423119.2_Silent_p.A911A|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Silent_p.A911A NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 911 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GCAAGATGGCGAAAGGAGAAG 0.443000 12 139 0 0 1 0 0 KRTAP13-4 284827 broad.mit.edu 37 21 31803072 31803072 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr21:31803072G>A ENST00000334068.2 + 1 501 c.479G>A c.(478-480)tGc>tAc p.C160Y NM_181600.1 NP_853631.1 Q3LI77 KR134_HUMAN keratin associated protein 13-4 160 intermediate filament NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 15 CAATTCACCTGCTAAATTTCT 0.408000 10 96 0 0 1 0 0 ZNF44 51710 broad.mit.edu 37 19 12383989 12383989 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr19:12383989G>C ENST00000356109.5 - 5 1343 c.1225C>G c.(1225-1227)Cta>Gta p.L409V ZNF44_ENST00000355684.5_Missense_Mutation_p.L361V NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) GGTTTCTCTAGAGTGTGAGTT 0.423000 41 53 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39881454 39881454 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr15:39881454G>C ENST00000260356.5 + 12 1990 c.1825G>C c.(1825-1827)Gag>Cag p.E609Q NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 609 EGF-like 2; calcium-binding (Potential). activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) GCACCGGTGTGAGAACACGGA 0.562000 28 40 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24993329 24993329 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:24993329C>T ENST00000323848.9 + 13 1967 c.1652C>T c.(1651-1653)tCc>tTc p.S551F SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.S563F|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.S560F NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 551 Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding p.S551F(1) breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) AGAAGTCCATCCCCACCACCC 0.522000 12 32 0 0 1 0 0 FGF8 2253 broad.mit.edu 37 10 103530308 103530308 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr10:103530308C>G ENST00000347978.2 - 5 595 c.426G>C c.(424-426)caG>caC p.Q142H FGF8_ENST00000346714.3_Missense_Mutation_p.Q131H|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000344255.3_Missense_Mutation_p.Q160H|FGF8_ENST00000320185.2_Missense_Mutation_p.Q171H NM_006119.4 NP_006110.1 P55075 FGF8_HUMAN fibroblast growth factor 8 (androgen-induced) 160 bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation extracellular region|extracellular space growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2) 5 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) ACTTGGCATTCTGCAGCGCTG 0.602000 8 33 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36595452 36595452 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr11:36595452G>A ENST00000299440.5 + 2 710 c.598G>A c.(598-600)Gtg>Atg p.V200M NM_000448.2 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 200 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) CCCGAGGAACGTGACCATGGA 0.547000 Familial Hemophagocytic Lymphohistiocytosis 12 32 0 0 1 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629156 1629156 + Missense_Mutation SNP T T A rs75371407 TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr11:1629156T>A ENST00000399685.1 - 1 537 c.460A>T c.(460-462)Agc>Tgc p.S154C NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 154 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) TGGGAGCAGCTGGGCTTGCAG 0.627000 5 176 0 0 1 0 0 ZC3H3 23144 broad.mit.edu 37 8 144557733 144557733 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr8:144557733G>A ENST00000262577.5 - 5 1769 c.1738C>T c.(1738-1740)Cgt>Tgt p.R580C NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 580 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) GCAACTGGACGCAGGCGGTTC 0.637000 5 6 0 0 1 0 0 GRIP1 23426 broad.mit.edu 37 12 66909536 66909536 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr12:66909536G>A ENST00000359742.4 - 7 827 c.587C>T c.(586-588)aCg>aTg p.T196M GRIP1_ENST00000398016.3_Missense_Mutation_p.T196M|GRIP1_ENST00000286445.7_Missense_Mutation_p.T196M Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 196 PDZ 2. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) GGGTTTGATCGTGCCCTCTCT 0.413000 22 42 0 0 1 0 0 USP10 9100 broad.mit.edu 37 16 84778898 84778898 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr16:84778898C>G ENST00000219473.7 + 4 924 c.811C>G c.(811-813)Cag>Gag p.Q271E USP10_ENST00000570191.1_Missense_Mutation_p.Q275E NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 271 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 AGCTGGGGCTCAGCCCTGCGT 0.587000 12 11 0 0 1 0 0 SLC28A2 9153 broad.mit.edu 37 15 45561681 45561681 + Missense_Mutation SNP A A T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr15:45561681A>T ENST00000347644.3 + 14 1579 c.1514A>T c.(1513-1515)aAa>aTa p.K505I CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA NM_004212.3 NP_004203.2 O43868 S28A2_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 2 505 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) TACAAGAACAAACGTCTCTCT 0.448000 14 25 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92170918 92170918 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr14:92170918G>C ENST00000256343.3 - 7 750 c.594C>G c.(592-594)ttC>ttG p.F198L NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 198 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) TATCCACAATGAAGCCTAGTA 0.363000 88 18 0 0 1 0 0 OXTR 5021 broad.mit.edu 37 3 8809244 8809244 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:8809244G>A ENST00000316793.3 - 3 1254 c.630C>T c.(628-630)atC>atT p.I210I CAV3_ENST00000472766.1_Intron NM_000916.3 NP_000907.2 P30559 OXYR_HUMAN oxytocin receptor 210 female pregnancy|lactation|muscle contraction integral to plasma membrane oxytocin receptor activity|vasopressin receptor activity NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(96;0.15) Carbetocin(DB01282) TGACCGGCACGATGTAGACAG 0.637000 15 51 0 0 1 0 0 WNT1 7471 broad.mit.edu 37 12 49374388 49374388 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr12:49374388C>T ENST00000293549.3 + 3 576 c.540C>T c.(538-540)ttC>ttT p.F180F NM_005430.3 NP_005421.1 P04628 WNT1_HUMAN wingless-type MMTV integration site family, member 1 180 brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(357;0.244) GCCGCCTCTTCGGCCGGGAGT 0.672000 3 2 0 0 1 0 0 ZNF702P 79986 broad.mit.edu 37 19 53473928 53473928 + RNA SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr19:53473928C>G ENST00000600068.1 - 0 437 ZNF702P_ENST00000270443.4_RNA TTTCTTTCATCTTCTTGCCAC 0.388000 6 48 0 0 1 0 0 MAGOH 4116 broad.mit.edu 37 1 53692748 53692748 + Missense_Mutation SNP A A G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:53692748A>G ENST00000371470.3 - 5 571 c.410T>C c.(409-411)aTt>aCt p.I137T MAGOH_ENST00000371466.4_Missense_Mutation_p.I100T NM_002370.3 NP_002361.1 P61326 MGN_HUMAN mago-nashi homolog, proliferation-associated (Drosophila) 137 mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck protein binding|RNA binding p.I137T(1) haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1) 6 GTGTAATCCAATAAGACTGAA 0.378000 3 52 0 0 1 0 0 STK10 6793 broad.mit.edu 37 5 171509467 171509467 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr5:171509467G>A ENST00000176763.5 - 12 2195 c.1852C>T c.(1852-1854)Cgt>Tgt p.R618C NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 618 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTTTGCTGACGCTCCAGGTTC 0.547000 26 31 0 0 1 0 0 NXPE3 91775 broad.mit.edu 37 3 101520629 101520629 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:101520629G>A ENST00000422132.1 + 2 841 c.644G>A c.(643-645)cGt>cAt p.R215H NXPE3_ENST00000477909.1_Missense_Mutation_p.R215H|NXPE3_ENST00000273347.5_Missense_Mutation_p.R215H|NXPE3_ENST00000491511.2_Missense_Mutation_p.R215H neurexophilin and PC-esterase domain family, member 3 AGTCTCTTCCGTTCAGGAAGA 0.483000 3 53 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126741616 126741616 + Missense_Mutation SNP G G T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:126741616G>T ENST00000251772.4 + 22 4317 c.4248G>T c.(4246-4248)aaG>aaT p.K1416N PLXNA1_ENST00000393409.2_Missense_Mutation_p.K1439N Q9UIW2 PLXA1_HUMAN plexin A1 1439 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) TGGCAGAGAAGATGCTAACTA 0.572000 55 59 4.10029e-35 4.55729e-35 1 1 0 KMT2E 55904 broad.mit.edu 37 7 104752477 104752477 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr7:104752477C>T ENST00000334877.4 + 26 4682 c.4148C>T c.(4147-4149)tCt>tTt p.S1383F KMT2E_ENST00000311117.3_Missense_Mutation_p.S1425F|KMT2E_ENST00000257745.4_Missense_Mutation_p.S1425F|KMT2E_ENST00000334914.7_Missense_Mutation_p.S480F|SRPK2_ENST00000493638.1_Intron lysine (K)-specific methyltransferase 2E CGTAATTCATCTGAGCAACTT 0.438000 20 76 0 0 1 0 0 XKR7 343702 broad.mit.edu 37 20 30585204 30585204 + Nonsense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr20:30585204C>T ENST00000562532.2 + 3 1858 c.1684C>T c.(1684-1686)Cag>Tag p.Q562* NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GCCCCGGTTGCAGTACCGGAG 0.592000 8 65 0 0 1 0 0 GTSE1 51512 broad.mit.edu 37 22 46722393 46722393 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr22:46722393G>A ENST00000454366.1 + 9 1778 c.1566G>A c.(1564-1566)ctG>ctA p.L522L NM_016426.6 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 503 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) AAAGCCTGCTGAGCGCATGGC 0.627000 22 18 0 0 1 0 0 RBP4 5950 broad.mit.edu 37 10 95353738 95353738 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr10:95353738G>A ENST00000371467.1 - 5 729 c.410C>T c.(409-411)tCc>tTc p.S137F RBP4_ENST00000371469.2_Missense_Mutation_p.S135F|FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Missense_Mutation_p.S137F P02753 RET4_HUMAN retinol binding protein 4, plasma 137 cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development extracellular space protein binding|retinal binding|retinol binding large_intestine(1)|lung(3)|skin(1) 5 Colorectal(252;0.122) Vitamin A(DB00162) GAGGCGGCAGGAGTACTGCAC 0.572000 27 38 0 0 1 0 0 DUSP5 1847 broad.mit.edu 37 10 112258061 112258061 + Nonsense_Mutation SNP C C A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr10:112258061C>A ENST00000369583.3 + 1 466 c.182C>A c.(181-183)tCg>tAg p.S61* NM_004419.3 NP_004410.3 Q16690 DUS5_HUMAN dual specificity phosphatase 5 61 Rhodanese. endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 13 Breast(234;0.0848) Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12) ggcgcggTGTCGGCGCGCTAC 0.771000 3 7 0.004672 0.00468505 1 1 0 DCDC1 341019 broad.mit.edu 37 11 30937068 30937068 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr11:30937068C>G ENST00000597505.1 - 25 3642 c.3643G>C c.(3643-3645)Gaa>Caa p.E1215Q DCDC1_ENST00000339794.5_Missense_Mutation_p.E294Q|DCDC1_ENST00000406071.2_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CTGCTGTCTTCCTGGTGTATC 0.448000 17 35 0 0 1 0 0 ZNF697 90874 broad.mit.edu 37 1 120166626 120166626 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:120166626G>A ENST00000421812.2 - 3 459 c.340C>T c.(340-342)Cgg>Tgg p.R114W NM_001080470.1 NP_001073939.1 Q5TEC3 ZN697_HUMAN zinc finger protein 697 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) CGGAGGCTCCGGGATATGCTG 0.612000 14 11 0 0 1 0 0 OPTC 26254 broad.mit.edu 37 1 203465232 203465232 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:203465232G>C ENST00000367222.2 + 2 215 c.99G>C c.(97-99)caG>caC p.Q33H NM_014359.3 NP_055174.1 Q9UBM4 OPT_HUMAN opticin 33 proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.109) GAGAGGAGCAGATGCCCAGGG 0.547000 5 30 0 0 1 0 0 VPS33A 65082 broad.mit.edu 37 12 122717471 122717471 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr12:122717471G>A ENST00000267199.4 - 12 1597 c.1485C>T c.(1483-1485)ctC>ctT p.L495L RP11-512M8.5_ENST00000535844.1_Silent_p.L456L NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 495 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) GCCGCACACTGAGCGGGGCAT 0.572000 4 14 0 0 1 0 0 PER2 8864 broad.mit.edu 37 2 239167177 239167177 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:239167177C>T ENST00000254657.3 - 15 2015 c.1736G>A c.(1735-1737)tGc>tAc p.C579Y PER2_ENST00000254658.3_3'UTR NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 579 CSNK1E binding domain (By similarity). circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) CTGGTAGGAGCAGGTGGGCTG 0.577000 5 24 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501700 140501700 + Missense_Mutation SNP C C A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr5:140501700C>A ENST00000194152.1 + 1 120 c.120C>A c.(118-120)agC>agA p.S40R NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 40 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAACAGAGAGCGGCTCCTTTG 0.537000 16 35 6.72482e-11 7.16383e-11 1 1 0 ACP1 52 broad.mit.edu 37 2 272114 272114 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:272114G>A ENST00000272065.5 + 3 288 c.195G>A c.(193-195)aaG>aaA p.K65K ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000439645.2_Intron|ACP1_ENST00000405233.1_Intron|ACP1_ENST00000407983.3_Silent_p.K65K|ACP1_ENST00000272067.6_Intron NM_004300.3 NP_004291.1 P24666 PPAC_HUMAN acid phosphatase 1, soluble 65 cytoplasm|internal side of plasma membrane|nucleus|soluble fraction acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236) all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127) GCTGCATGAAGAGGCACGGCA 0.562000 18 14 0 0 1 0 0 BORA 79866 broad.mit.edu 37 13 73309140 73309140 + Silent SNP A A G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr13:73309140A>G ENST00000390667.5 + 4 400 c.303A>G c.(301-303)gaA>gaG p.E101E BORA_ENST00000377815.3_Silent_p.E31E|BORA_ENST00000464754.1_Intron NM_024808.2 NP_079084.2 Q6PGQ7 BORA_HUMAN bora, aurora kinase A activator 101 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding AAGCCATTGAAGAGGTAACTT 0.303000 9 119 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101092411 101092411 + Missense_Mutation SNP A A G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr8:101092411A>G ENST00000360863.6 - 4 484 c.290T>C c.(289-291)aTg>aCg p.M97T RGS22_ENST00000523287.1_Start_Codon_SNP_p.M1T|RGS22_ENST00000523437.1_Missense_Mutation_p.M97T NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 97 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) GGGGGCATTCATTTGAACAGG 0.333000 27 360 0 0 1 0 0 ZNF732 654254 broad.mit.edu 37 4 265774 265774 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr4:265774G>A ENST00000419098.1 - 4 882 c.872C>T c.(871-873)tCa>tTa p.S291L NM_001137608.1 NP_001131080.1 B4DXR9 ZN732_HUMAN zinc finger protein 732 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(2) 3 GGCAACATTTGAGGATGAGGT 0.383000 5 14 0 0 1 0 0 C4orf45 152940 broad.mit.edu 37 4 159881465 159881465 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr4:159881465G>A ENST00000434826.2 - 3 413 c.329C>T c.(328-330)tCa>tTa p.S110L C4orf45_ENST00000508011.1_Intron NM_152543.2 NP_689756.2 Q96LM5 CD045_HUMAN chromosome 4 open reading frame 45 110 large_intestine(2)|lung(3) 5 GTGGGTTATTGAATCAAGAGA 0.308000 5 23 0 0 1 0 0 SLC5A5 6528 broad.mit.edu 37 19 17988547 17988547 + Silent SNP G G A rs145029822 byFrequency TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr19:17988547G>A ENST00000222248.3 + 6 1061 c.714G>A c.(712-714)ccG>ccA p.P238P NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 238 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 ACCCTGACCCGAGGAGCCGCT 0.602000 14 13 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156632274 156632274 + Missense_Mutation SNP T T G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr4:156632274T>G ENST00000296518.7 + 6 1166 c.957T>G c.(955-957)aaT>aaG p.N319K GUCY1A3_ENST00000513574.1_Missense_Mutation_p.N319K|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.N319K|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.N319K|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.N61K|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.N319K|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.N319K Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 319 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GAAAGCCTAATTTTGAAGAAT 0.378000 12 50 0 0 1 0 0 DYM 54808 broad.mit.edu 37 18 46889551 46889551 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr18:46889551C>T ENST00000269445.6 - 6 931 c.474G>A c.(472-474)ttG>ttA p.L158L DYM_ENST00000578396.1_Silent_p.L3L|DYM_ENST00000442713.2_Intron NM_017653.3 NP_060123.3 Q7RTS9 DYM_HUMAN dymeclin 158 Golgi apparatus NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 TATCAGTGATCAACTGCATCA 0.353000 43 33 0 0 1 0 0 PDE4B 5142 broad.mit.edu 37 1 66798288 66798288 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:66798288G>A ENST00000423207.2 + 6 1172 c.687G>A c.(685-687)gaG>gaA p.E229E PDE4B_ENST00000329654.4_Silent_p.E244E|PDE4B_ENST00000371045.5_Silent_p.E72E|PDE4B_ENST00000371049.3_Silent_p.E244E NM_001037340.1 NP_001032417.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific 244 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) CTGTCAGTGAGATGGCTTCTA 0.458000 9 30 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 3 27 0 0 1 0 0 TELO2 9894 broad.mit.edu 37 16 1557609 1557609 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr16:1557609C>G ENST00000262319.6 + 20 2578 c.2299C>G c.(2299-2301)Cgc>Ggc p.R767G NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 767 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) CAGCTACGTGCGCCAGGGGCT 0.706000 3 6 0 0 1 0 0 PALLD 23022 broad.mit.edu 37 4 169812207 169812207 + Splice_Site SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr4:169812207C>T ENST00000335742.7 + 12 2982 c.1625C>T c.(1624-1626)cCg>cTg p.P542L CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Splice_Site_p.P700L|PALLD_ENST00000505667.1_Splice_Site_p.P700L|PALLD_ENST00000507735.1_Splice_Site_p.P213L|PALLD_ENST00000512127.1_Splice_Site_p.P318L Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 924 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) AATGGCCAGCCGGTACTGATA 0.448000 Pancreatic Cancer, Familial Clustering of 5 41 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8609262 8609262 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr19:8609262C>G ENST00000338257.8 - 14 1710 c.1443G>C c.(1441-1443)caG>caC p.Q481H NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 481 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CCTGCAGCTTCTGCAGCAGTG 0.682000 6 26 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10467432 10467432 + Missense_Mutation SNP C C A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr8:10467432C>A ENST00000382483.3 - 4 4399 c.4176G>T c.(4174-4176)gaG>gaT p.E1392D NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1392 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CTTTGAGACCCTCTTCAAGAG 0.542000 77 190 7.7321e-48 8.62057e-48 1 1 0 NLRP5 126206 broad.mit.edu 37 19 56552371 56552371 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr19:56552371G>C ENST00000390649.3 + 11 2870 c.2870G>C c.(2869-2871)tGc>tCc p.C957S NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 957 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) ACACACCTGTGCCTATCCAAC 0.567000 21 99 0 0 1 0 0 KIAA1614 57710 broad.mit.edu 37 1 180905028 180905028 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:180905028G>A ENST00000367588.4 + 5 2038 c.1983G>A c.(1981-1983)aaG>aaA p.K661K KIAA1614_ENST00000367587.1_Silent_p.K282K NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 661 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GGTGGTCCAAGAAGGCTGAGG 0.667000 12 33 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48201215 48201215 + Silent SNP G G T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr16:48201215G>T ENST00000394747.1 - 29 4468 c.4119C>A c.(4117-4119)ctC>ctA p.L1373L ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Silent_p.L1373L|ABCC11_ENST00000356608.2_Silent_p.L1373L|ABCC11_ENST00000353782.5_Silent_p.L1335L NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 1373 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CTGTGGCCATGAGGGCTGCGA 0.577000 35 72 3.62531e-18 3.95588e-18 1 1 0 BHLHE41 79365 broad.mit.edu 37 12 26277501 26277501 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr12:26277501G>A ENST00000242728.4 - 2 424 c.77C>T c.(76-78)tCt>tTt p.S26F NM_030762.2 NP_110389.1 Q9C0J9 BHE41_HUMAN basic helix-loop-helix family, member e41 26 cell differentiation|cell proliferation|organ morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1) 5 CATATACAAAGAGGAATAGTC 0.463000 10 381 0 0 1 0 0 FAM120B 84498 broad.mit.edu 37 6 170627293 170627293 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr6:170627293C>T ENST00000476287.1 + 2 923 c.815C>T c.(814-816)tCg>tTg p.S272L FAM120B_ENST00000540480.1_Missense_Mutation_p.S284L|FAM120B_ENST00000537664.1_Missense_Mutation_p.S295L|FAM120B_ENST00000252510.9_Intron NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 272 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) GACCATATATCGAAAGTTCTT 0.333000 12 67 0 0 1 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140811700 140811700 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr5:140811700C>T ENST00000252085.3 + 1 1516 c.1374C>T c.(1372-1374)tcC>tcT p.S458S PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTCCTATTCCGCTTATATCC 0.582000 11 40 0 0 1 0 0 MT1A 4489 broad.mit.edu 37 16 56672671 56672671 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr16:56672671C>T ENST00000290705.8 + 1 94 c.21C>T c.(19-21)tgC>tgT p.C7C NM_005946.2 NP_005937.2 P04731 MT1A_HUMAN metallothionein 1A 7 Beta. cytoplasm cadmium ion binding|copper ion binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(1) 3 ACTGCTCCTGCGCCACTGGTA 0.542000 16 102 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6709148 6709148 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr12:6709148C>G ENST00000309577.6 - 10 1436 c.1273G>C c.(1273-1275)Gag>Cag p.E425Q CHD4_ENST00000357008.2_Missense_Mutation_p.E425Q|CHD4_ENST00000544040.1_Missense_Mutation_p.E418Q|CHD4_ENST00000544484.1_Missense_Mutation_p.E422Q Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 425 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GAATTGTCCTCTTTAGCTTCC 0.547000 35 127 0 0 1 0 0 ADC 113451 broad.mit.edu 37 1 33562402 33562402 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:33562402C>T ENST00000294517.6 + 9 1435 c.848C>T c.(847-849)tCg>tTg p.S283L ADC_ENST00000398167.1_Missense_Mutation_p.S283L|ADC_ENST00000373441.1_Missense_Mutation_p.S283L|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373440.1_Missense_Mutation_p.S125L|ADC_ENST00000373443.3_Missense_Mutation_p.S283L|ADC_ENST00000358680.3_Missense_Mutation_p.S125L NM_052998.2 NP_443724.1 Q96A70 ADC_HUMAN arginine decarboxylase 283 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) TACGTGACCTCGGCCTTCACT 0.587000 12 35 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65194275 65194275 + Splice_Site SNP C C A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr4:65194275C>A ENST00000381210.3 - 3 397 c.e3-1 TECRL_ENST00000507440.1_Splice_Site NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 CACTTTGGACCTATTCAATGA 0.318000 17 52 8.00594e-06 8.11902e-06 1 1 0 PDIA3 2923 broad.mit.edu 37 15 44057707 44057707 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr15:44057707C>T ENST00000300289.5 + 6 810 c.662C>T c.(661-663)gCa>gTa p.A221V PDIA3_ENST00000538521.1_Missense_Mutation_p.A201V NM_005313.4 NP_005304.3 P30101 PDIA3_HUMAN protein disulfide isomerase family A, member 3 221 cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction endoplasmic reticulum lumen|melanosome cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1) 17 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) AAGACTGTGGCATATACAGAG 0.353000 42 65 0 0 1 0 0 PHF2 5253 broad.mit.edu 37 9 96415636 96415636 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr9:96415636C>T ENST00000359246.4 + 6 1145 c.778C>T c.(778-780)Cac>Tac p.H260Y PHF2_ENST00000375376.4_Intron NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 260 JmjC. liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) TGCCTGGTACCACGTGCTCAA 0.597000 6 20 0 0 1 0 0 NTSR1 4923 broad.mit.edu 37 20 61386081 61386081 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr20:61386081G>A ENST00000370501.3 + 2 1130 c.759G>A c.(757-759)tcG>tcA p.S253S NM_002531.2 NP_002522.2 P30989 NTR1_HUMAN neurotensin receptor 1 (high affinity) 253 endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled p.S253S(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3) 27 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) TGGTCATCTCGGTCCTGAACA 0.607000 63 48 0 0 1 0 0 UBR2 23304 broad.mit.edu 37 6 42641914 42641914 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr6:42641914G>A ENST00000372899.1 + 38 4492 c.4234G>A c.(4234-4236)Gac>Aac p.D1412N UBR2_ENST00000372901.1_Missense_Mutation_p.D1412N|UBR2_ENST00000372883.3_3'UTR NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1412 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) ATTAGATATTGACATGTTTCA 0.378000 37 57 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 88048267 88048267 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr4:88048267C>T ENST00000307808.6 + 14 3300 c.2880C>T c.(2878-2880)gaC>gaT p.D960D AFF1_ENST00000544085.1_Silent_p.D598D|AFF1_ENST00000395146.4_Silent_p.D967D NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 960 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) TGAAGTTTGACAAGTAAGACT 0.443000 30 91 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161071421 161071421 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr6:161071421G>A ENST00000447678.1 - 3 278 c.158C>T c.(157-159)tCa>tTa p.S53L LPA_ENST00000316300.5_Missense_Mutation_p.S53L NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 2561 Kringle 1. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TGTCATAGATGACCAAGCTTG 0.448000 51 183 0 0 1 0 0 TAF3 83860 broad.mit.edu 37 10 8055748 8055748 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr10:8055748G>C ENST00000344293.5 + 6 2829 c.2623G>C c.(2623-2625)Gac>Cac p.D875H NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 875 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 TAACAAGCCTGACGATGGGAG 0.562000 11 347 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26310532 26310532 + Missense_Mutation SNP C C A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr10:26310532C>A ENST00000265944.5 + 8 852 c.686C>A c.(685-687)cCa>cAa p.P229Q MYO3A_ENST00000376302.1_Missense_Mutation_p.P229Q|MYO3A_ENST00000543632.1_Missense_Mutation_p.P229Q NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 229 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GGAGATCCTCCACTAGCTGAC 0.498000 13 508 7.03913e-09 7.34607e-09 1 1 0 SPTAN1 6709 broad.mit.edu 37 9 131345392 131345392 + Nonsense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr9:131345392C>T ENST00000372739.3 + 15 1953 c.1843C>T c.(1843-1845)Cag>Tag p.Q615* SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.Q615*|SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.Q615* NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 615 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 ACAGAAGCATCAGGCTTTTGA 0.458000 25 4 0 0 1 0 0 DNA2 1763 broad.mit.edu 37 10 70191724 70191724 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr10:70191724C>G ENST00000399180.2 - 13 2135 c.2136G>C c.(2134-2136)ttG>ttC p.L712F DNA2_ENST00000399179.2_Missense_Mutation_p.L626F|DNA2_ENST00000358410.3_Missense_Mutation_p.L626F P51530 DNA2L_HUMAN DNA replication helicase/nuclease 2 626 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 GAGGCTTATTCAAACCTACAT 0.343000 27 79 0 0 1 0 0 HOXC6 3223 broad.mit.edu 37 12 54422457 54422457 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr12:54422457C>G ENST00000243108.4 + 1 316 c.152C>G c.(151-153)tCg>tGg p.S51W RP11-834C11.14_ENST00000512206.1_RNA|HOXC6_ENST00000394331.3_5'UTR|RP11-834C11.12_ENST00000513209.1_Intron|HOXC4_ENST00000303406.4_Intron NM_004503.3 NP_004494.1 P09630 HXC6_HUMAN homeobox C6 51 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CGGATCTACTCGACTCCCTTT 0.542000 10 29 0 0 1 0 0 FAM133B 257415 broad.mit.edu 37 7 92208708 92208708 + Splice_Site SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr7:92208708C>T ENST00000438306.1 - 4 324 c.94G>A c.(94-96)Gaa>Aaa p.E32K FAM133B_ENST00000445716.1_Splice_Site_p.E42K|FAM133B_ENST00000427372.1_Splice_Site_p.E32K NM_001040057.1 NP_001035146.1 Q5BKY9 F133B_HUMAN family with sequence similarity 133, member B 42 endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1) 4 all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TTTACTTCTTCCCTTAAAAAA 0.274000 8 9 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347365 71347365 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr4:71347365G>C ENST00000413702.1 + 4 1192 c.904G>C c.(904-906)Gag>Cag p.E302Q MUC7_ENST00000304887.5_Missense_Mutation_p.E302Q|MUC7_ENST00000456088.1_Missense_Mutation_p.E302Q NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 302 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) AGCTCCACAAGAGACCACAGC 0.557000 52 52 0 0 1 0 0 FTMT 94033 broad.mit.edu 37 5 121187858 121187858 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr5:121187858G>A ENST00000321339.1 + 1 209 c.200G>A c.(199-201)cGg>cAg p.R67Q NM_177478.1 NP_803431.1 Q8N4E7 FTMT_HUMAN ferritin mitochondrial 67 cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity p.R67Q(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) GGCCCCTCTCGGGTGCGCCAG 0.711000 5 5 0 0 1 0 0 KIAA1468 57614 broad.mit.edu 37 18 59941275 59941275 + Silent SNP T T G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr18:59941275T>G ENST00000256858.6 + 22 3173 c.2925T>G c.(2923-2925)tcT>tcG p.S975S KIAA1468_ENST00000398130.2_Silent_p.S941S Q9P260 K1468_HUMAN KIAA1468 941 binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) TTTCATTATCTCATGCTCCTC 0.353000 27 46 0 0 1 0 0 HBS1L 10767 broad.mit.edu 37 6 135308785 135308785 + Nonsense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr6:135308785G>A ENST00000367837.5 - 9 1434 c.1228C>T c.(1228-1230)Cag>Tag p.Q410* HBS1L_ENST00000527578.1_Nonsense_Mutation_p.Q246*|HBS1L_ENST00000415177.2_Nonsense_Mutation_p.Q345*|HBS1L_ENST00000445176.2_Nonsense_Mutation_p.Q134*|HBS1L_ENST00000367824.4_Nonsense_Mutation_p.Q246*|HBS1L_ENST00000367826.2_Nonsense_Mutation_p.Q368* NM_001145158.1|NM_006620.3 NP_001138630.1|NP_006611.1 Q9Y450 HBS1L_HUMAN HBS1-like (S. cerevisiae) 410 signal transduction GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 20 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) TTAAATACCTGATCCATTTTA 0.398000 6 70 0 0 1 0 0 ZIC5 85416 broad.mit.edu 37 13 100617664 100617664 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr13:100617664G>A ENST00000267294.4 - 2 2192 c.1959C>T c.(1957-1959)taC>taT p.Y653Y NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 653 cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAGGGTTCCCGTAAATTTCCT 0.468000 42 57 0 0 1 0 0 CRIM1 51232 broad.mit.edu 37 2 36623930 36623930 + Splice_Site SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:36623930G>A ENST00000280527.2 + 2 872 c.505G>A c.(505-507)Gaa>Aaa p.E169K NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 169 nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) GAGAATTGAAGGTAAGCATTA 0.368000 22 54 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558592 113558592 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr7:113558592C>G ENST00000284601.3 - 1 528 c.460G>C c.(460-462)Gag>Cag p.E154Q NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 154 CBM21. 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 ACTAACTTCTCAAAAGAAACA 0.358000 21 71 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160125918 160125918 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:160125918C>G ENST00000368081.4 + 4 966 c.495C>G c.(493-495)atC>atG p.I165M NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 165 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCTCCAAGATCATGGAGTCTT 0.517000 81 58 0 0 1 0 0 TBL1X 6907 broad.mit.edu 37 X 9622274 9622274 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chrX:9622274C>G ENST00000217964.7 + 5 763 c.123C>G c.(121-123)atC>atG p.I41M TBL1X_ENST00000407597.2_Missense_Mutation_p.I41M|TBL1X_ENST00000424279.1_5'UTR|TBL1X_ENST00000380961.1_5'UTR|TBL1X_ENST00000536365.1_5'UTR NM_005647.3 NP_005638.1 O60907 TBL1X_HUMAN transducin (beta)-like 1X-linked 41 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2) 20 Hepatocellular(5;0.000888) CCCACTTCATCAACACCTCAT 0.418000 17 4 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237756797 237756797 + Missense_Mutation SNP T T C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:237756797T>C ENST00000366574.2 + 33 4614 c.4297T>C c.(4297-4299)Ttt>Ctt p.F1433L RYR2_ENST00000360064.6_Missense_Mutation_p.F1431L|RYR2_ENST00000542537.1_Missense_Mutation_p.F1417L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1433 4 X approximate repeats.|B30.2/SPRY 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGTGAGAATCTTTCCTGGACA 0.403000 5 23 0 0 1 0 0 IQGAP3 128239 broad.mit.edu 37 1 156498839 156498839 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:156498839C>T ENST00000361170.2 - 35 4450 c.4440G>A c.(4438-4440)cgG>cgA p.R1480R NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1480 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCTCTGCCTTCCGCCTGTGCC 0.592000 82 52 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99642429 99642429 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr14:99642429G>C ENST00000345514.2 - 3 797 c.531C>G c.(529-531)atC>atG p.I177M BCL11B_ENST00000443726.2_Missense_Mutation_p.I54M|BCL11B_ENST00000357195.3_Missense_Mutation_p.I248M NM_001282238.1|NM_022898.1 NP_001269167.1|NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 248 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) GCTCCAGGTAGATGCGGAAGC 0.662000 T TLX3 T-ALL 23 9 0 0 1 0 0 C8orf59 401466 broad.mit.edu 37 8 86126847 86126847 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr8:86126847C>G ENST00000417663.2 - 4 316 c.245G>C c.(244-246)cGt>cCt p.R82P C8orf59_ENST00000458398.2_Missense_Mutation_p.R82P|C8orf59_ENST00000524353.1_Missense_Mutation_p.R82P|E2F5_ENST00000519128.1_3'UTR|C8orf59_ENST00000518091.1_Missense_Mutation_p.R82P|C8orf59_ENST00000518562.1_Missense_Mutation_p.R43P|C8orf59_ENST00000421308.2_Missense_Mutation_p.R82P|C8orf59_ENST00000431163.2_Missense_Mutation_p.R43P NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1 NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143 Q8N0T1 CH059_HUMAN chromosome 8 open reading frame 59 82 GCTTTCATGACGCTGCTGAGG 0.323000 6 53 0 0 1 0 0 SNRPA 6626 broad.mit.edu 37 19 41268862 41268862 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr19:41268862G>A ENST00000243563.3 + 4 1033 c.483G>A c.(481-483)ccG>ccA p.P161P NM_004596.4 NP_004587.1 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A 161 Pro-rich. nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CGGGCCAGCCGCCCTACATGC 0.677000 8 66 0 0 1 0 0 NKX2-2 4821 broad.mit.edu 37 20 21492970 21492970 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr20:21492970G>A ENST00000377142.4 - 2 769 c.413C>T c.(412-414)gCg>gTg p.A138V NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 138 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 GTAGGTCTGCGCCTTGGAGAA 0.697000 3 11 0 0 1 0 0 ATN1 1822 broad.mit.edu 37 12 7047065 7047065 + Missense_Mutation SNP C C A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr12:7047065C>A ENST00000356654.4 + 6 2589 c.2352C>A c.(2350-2352)ttC>ttA p.F784L ATN1_ENST00000396684.2_Missense_Mutation_p.F784L NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 784 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 ACCTGTACTTCGTGCCACTGG 0.687000 4 6 2.56e-06 2.62583e-06 1 1 0 ACSF3 197322 broad.mit.edu 37 16 89220540 89220540 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr16:89220540G>A ENST00000317447.4 + 11 2033 c.1656G>A c.(1654-1656)ctG>ctA p.L552L ACSF3_ENST00000537116.1_3'UTR|ACSF3_ENST00000378345.4_Silent_p.L287L|ACSF3_ENST00000406948.3_Silent_p.L552L NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3 NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 552 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(80;0.0281) AGCTGGTGCTGGTGGAGGAGA 0.632000 4 12 0 0 1 0 0 CENPI 2491 broad.mit.edu 37 X 100417903 100417903 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chrX:100417903C>T ENST00000372927.1 + 21 2495 c.2218C>T c.(2218-2220)Cat>Tat p.H740Y CENPI_ENST00000218507.5_Missense_Mutation_p.H726Y|CENPI_ENST00000423383.1_Missense_Mutation_p.H740Y NM_006733.2 NP_006724.2 Q92674 CENPI_HUMAN centromere protein I 740 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding p.H740Y(1) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30 AAGTAGTGTTCATCATTCTTC 0.383000 40 14 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 598454 598454 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr11:598454C>G ENST00000264555.5 + 9 1104 c.976C>G c.(976-978)Cag>Gag p.Q326E PHRF1_ENST00000413872.2_Missense_Mutation_p.Q325E|PHRF1_ENST00000416188.2_Missense_Mutation_p.Q326E|PHRF1_ENST00000533464.1_Missense_Mutation_p.Q322E NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 326 Arg-rich. RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 TGCCGTGTATCAGCGCCCCCT 0.662000 3 19 0 0 1 0 0 C10orf137 26098 broad.mit.edu 37 10 127431657 127431657 + Missense_Mutation SNP A A T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr10:127431657A>T ENST00000337623.3 + 17 2405 c.2300A>T c.(2299-2301)gAc>gTc p.D767V C10orf137_ENST00000356792.4_Missense_Mutation_p.D801V NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 801 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TTGTCTACAGACTTAGAAAGT 0.368000 7 36 0 0 1 0 0 BTN3A1 11119 broad.mit.edu 37 6 26406292 26406292 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr6:26406292G>C ENST00000289361.6 + 3 609 c.241G>C c.(241-243)Gat>Cat p.D81H BTN3A1_ENST00000425234.2_Missense_Mutation_p.D81H|BTN3A1_ENST00000476549.2_Missense_Mutation_p.D81H|BTN3A1_ENST00000414912.2_Missense_Mutation_p.D81H NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 81 Ig-like V-type 1. lipid metabolic process integral to membrane breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 CGTGTATGCAGATGGAAAGGA 0.557000 39 61 0 0 1 0 0 DPEP3 64180 broad.mit.edu 37 16 68014178 68014178 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr16:68014178C>T ENST00000268793.4 - 1 554 c.181G>A c.(181-183)Gcg>Acg p.A61T DPEP3_ENST00000574342.1_5'UTR NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 36 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) GTGGTCTCCGCGCGGGTTACG 0.746000 5 7 0 0 1 0 0 RHBDD1 84236 broad.mit.edu 37 2 227729646 227729646 + Missense_Mutation SNP G G T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:227729646G>T ENST00000392062.2 + 4 761 c.237G>T c.(235-237)tgG>tgT p.W79C RHBDD1_ENST00000341329.3_Missense_Mutation_p.W79C NM_001167608.1 NP_001161080.1 Q8TEB9 RHBD1_HUMAN rhomboid domain containing 1 79 integral to membrane serine-type endopeptidase activity breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175) CTGATGATTGGCATTTGTATT 0.438000 22 42 3.5997e-14 3.88076e-14 1 1 0 MUSK 4593 broad.mit.edu 37 9 113547876 113547876 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr9:113547876C>T ENST00000416899.2 + 11 1758 c.1632C>T c.(1630-1632)ccC>ccT p.P544P MUSK_ENST00000374438.1_Silent_p.P68P|MUSK_ENST00000189978.5_Silent_p.P552P|MUSK_ENST00000374448.4_Silent_p.P552P O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 552 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 ATCCCAACCCCATGTACCAGA 0.498000 28 123 0 0 1 0 0 C6orf201 404220 broad.mit.edu 37 6 4087897 4087897 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr6:4087897C>T ENST00000380175.4 + 2 787 c.22C>T c.(22-24)Ctg>Ttg p.L8L C6orf201_ENST00000430835.2_Silent_p.L8L|C6orf201_ENST00000360378.6_3'UTR|C6orf201_ENST00000333388.5_Intron NM_001085401.2 NP_001078870.1 Q7Z4U5 CF201_HUMAN chromosome 6 open reading frame 201 8 central_nervous_system(1)|endometrium(3)|lung(2) 6 Ovarian(93;0.0925) all_hematologic(90;0.0895) CCTCCACGAGCTGCTTCCGAA 0.483000 43 208 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107408602 107408602 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chrX:107408602C>T ENST00000334504.7 - 38 4039 c.3806G>A c.(3805-3807)cGa>cAa p.R1269Q COL4A6_ENST00000545689.1_Missense_Mutation_p.R1245Q|COL4A6_ENST00000372216.4_Missense_Mutation_p.R1270Q|COL4A6_ENST00000394872.2_Missense_Mutation_p.R1270Q|COL4A6_ENST00000538570.1_Missense_Mutation_p.R1245Q NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 1270 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 GTCTTTACCTCGTTCTCCATC 0.592000 Alport syndrome with Diffuse Leiomyomatosis 21 13 0 0 1 0 0 COL4A3BP 10087 broad.mit.edu 37 5 74685495 74685495 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr5:74685495C>T ENST00000380494.5 - 13 1883 c.1590G>A c.(1588-1590)caG>caA p.Q530Q COL4A3BP_ENST00000405807.4_Silent_p.Q402Q|COL4A3BP_ENST00000261415.7_Silent_p.Q376Q NM_001130105.1 NP_001123577.1 Q9Y5P4 C43BP_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) binding protein 402 START. ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1) 16 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) TCATGTGGTTCTGCACCATCT 0.408000 8 29 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6552958 6552958 + Splice_Site SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr10:6552958C>T ENST00000263125.5 - 3 416 c.317G>A c.(316-318)tGg>tAg p.W106* PRKCQ_ENST00000397176.2_Splice_Site_p.W106*|PRKCQ_ENST00000539722.1_Splice_Site_p.M1I NM_001282644.1|NM_006257.3 NP_001269573.1|NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 106 C2. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 CAACGTTACCCATATTTCTGT 0.478000 14 267 0 0 1 0 0 PUS7L 83448 broad.mit.edu 37 12 44148851 44148851 + Silent SNP A A G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr12:44148851A>G ENST00000416848.2 - 2 686 c.198T>C c.(196-198)aaT>aaC p.N66N PUS7L_ENST00000551923.1_Silent_p.N66N|PUS7L_ENST00000553166.1_Silent_p.N66N|PUS7L_ENST00000344862.5_Silent_p.N66N|PUS7L_ENST00000431332.3_Intron NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 66 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) TTTTGGGAAAATTATTTGGCT 0.323000 3 43 0 0 1 0 0 TMEM8A 58986 broad.mit.edu 37 16 422243 422243 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr16:422243G>A ENST00000431232.2 - 13 2220 c.2060C>T c.(2059-2061)tCg>tTg p.S687L TMEM8A_ENST00000250930.3_Missense_Mutation_p.S494L NM_021259.2 NP_067082.2 Q9HCN3 TMM8A_HUMAN transmembrane protein 8A 687 S -> L (in Ref. 6; BAB14975). cell adhesion integral to plasma membrane central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 14 GCGCTGCCACGAGGTGGGGTA 0.642000 4 17 0 0 1 0 0 SLC31A1 1317 broad.mit.edu 37 9 116022660 116022660 + Silent SNP C C A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr9:116022660C>A ENST00000374212.4 + 5 632 c.480C>A c.(478-480)ctC>ctA p.L160L SLC31A1_ENST00000374210.6_Intron|CDC26_ENST00000490408.1_Intron NM_001859.3 NP_001850.1 O15431 COPT1_HUMAN solute carrier family 31 (copper transporter), member 1 160 integral to plasma membrane copper ion transmembrane transporter activity breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 7 ACGGGTACCTCTGCATTGCAG 0.502000 17 72 3.41278e-10 3.58242e-10 1 1 0 UNC5D 137970 broad.mit.edu 37 8 35402018 35402018 + Missense_Mutation SNP G G T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr8:35402018G>T ENST00000453357.2 + 1 109 c.53G>T c.(52-54)gGg>gTg p.G18V UNC5D_ENST00000404895.2_Intron|UNC5D_ENST00000416672.1_Intron|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000420357.1_Intron Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 0 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GGGACTTCCGGGTTCCTGTTG 0.428000 6 40 5.18039e-06 5.26844e-06 1 1 0 RHBDF2 79651 broad.mit.edu 37 17 74469921 74469921 + Splice_Site SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr17:74469921C>T ENST00000591885.1 - 14 2188 c.1638G>A c.(1636-1638)ccG>ccA p.P546P RHBDF2_ENST00000389760.4_Splice_Site_p.P546P|RHBDF2_ENST00000313080.4_Splice_Site_p.P575P Q6PJF5 RHDF2_HUMAN rhomboid 5 homolog 2 (Drosophila) 575 negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1) 27 GGACACTCACCGGCCACTTAG 0.657000 4 27 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100542245 100542245 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr4:100542245C>T ENST00000457717.1 + 18 2626 c.2370C>T c.(2368-2370)atC>atT p.I790I MTTP_ENST00000265517.5_Silent_p.I790I|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Silent_p.I817I NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 790 lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) CCACTGACATCACAGTGGACT 0.388000 13 46 0 0 1 0 0 RFC1 5981 broad.mit.edu 37 4 39304431 39304431 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr4:39304431G>A ENST00000381897.1 - 17 2402 c.2269C>T c.(2269-2271)Cat>Tat p.H757Y RFC1_ENST00000349703.2_Missense_Mutation_p.H756Y NM_001204747.1|NM_002913.4 NP_001191676.1|NP_002904.3 P35251 RFC1_HUMAN replication factor C (activator 1) 1, 145kDa 757 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 ATCTTGGGATGATTTCTATCA 0.313000 18 62 0 0 1 0 0 PDHA1 5160 broad.mit.edu 37 X 19377094 19377094 + Silent SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chrX:19377094C>G ENST00000379806.5 + 11 1219 c.1074C>G c.(1072-1074)ctC>ctG p.L358L PDHA1_ENST00000422285.2_Silent_p.L320L|PDHA1_ENST00000379804.1_Silent_p.L39L|PDHA1_ENST00000478795.1_3'UTR|PDHA1_ENST00000545074.1_Silent_p.L327L|PDHA1_ENST00000540249.1_Silent_p.L289L NM_001173454.1 NP_001166925.1 P08559 ODPA_HUMAN pyruvate dehydrogenase (lipoamide) alpha 1 320 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1) 18 Hepatocellular(33;0.183) NADH(DB00157) TTATGCTTCTCAAGGACAGGA 0.433000 23 11 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47276474 47276474 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr20:47276474G>C ENST00000396220.1 - 16 1886 c.1864C>G c.(1864-1866)Ctg>Gtg p.L622V PREX1_ENST00000371941.3_Missense_Mutation_p.L622V Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 622 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CGCTTGGCCAGAATGTTCTCC 0.582000 9 47 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30937078 30937078 + Nonsense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr11:30937078C>T ENST00000597505.1 - 25 3632 c.3633G>A c.(3631-3633)tgG>tgA p.W1211* DCDC1_ENST00000339794.5_Nonsense_Mutation_p.W290*|DCDC1_ENST00000406071.2_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CCTGGTGTATCCAGCGCTGAT 0.463000 20 36 0 0 1 0 0 MCEE 84693 broad.mit.edu 37 2 71351592 71351592 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:71351592G>C ENST00000244217.5 - 2 139 c.122C>G c.(121-123)tCt>tGt p.S41C NM_032601.3 NP_115990.3 Q96PE7 MCEE_HUMAN methylmalonyl CoA epimerase 41 fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process mitochondrial matrix methylmalonyl-CoA epimerase activity p.S41Y(1) kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 GTTCCACACAGAACCTGTCAC 0.468000 204 54 0 0 1 0 0 GH2 2689 broad.mit.edu 37 17 61958193 61958193 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr17:61958193G>C ENST00000332800.7 - 4 528 c.395C>G c.(394-396)tCg>tGg p.S132W GH2_ENST00000449787.2_Missense_Mutation_p.S117W|GH2_ENST00000423893.2_Missense_Mutation_p.S132W|GH2_ENST00000456543.2_Missense_Mutation_p.S132W NM_002059.4|NM_022557.3|NM_022558.3 NP_002050.1|NP_072051.1|NP_072052.1 P01242 SOM2_HUMAN growth hormone 2 132 extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 GTTGCTGTCCGAGGCGCCATA 0.622000 11 56 0 0 1 0 0 AIFM1 9131 broad.mit.edu 37 X 129270626 129270626 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chrX:129270626C>T ENST00000287295.3 - 11 1386 c.1156G>A c.(1156-1158)Ggc>Agc p.G386S AIFM1_ENST00000440263.1_Missense_Mutation_p.G34S|AIFM1_ENST00000346424.2_Missense_Mutation_p.G99S|AIFM1_ENST00000319908.3_Missense_Mutation_p.G382S|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000460436.2_Missense_Mutation_p.G47S NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 386 FAD-dependent oxidoreductase (By similarity). activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 ACCTTCCTGCCGTCTTTCAGC 0.468000 5 26 0 0 1 0 0 SLFN13 146857 broad.mit.edu 37 17 33768312 33768312 + Missense_Mutation SNP C C A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr17:33768312C>A ENST00000285013.6 - 6 2271 c.1996G>T c.(1996-1998)Gtc>Ttc p.V666F SLFN13_ENST00000542635.1_Missense_Mutation_p.V666F|SLFN13_ENST00000526861.1_Missense_Mutation_p.V666F|SLFN13_ENST00000534689.1_Missense_Mutation_p.V348F|SLFN13_ENST00000360502.2_Missense_Mutation_p.V348F|SLFN13_ENST00000533791.1_Missense_Mutation_p.V666F NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 666 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TCGTCAATGACGATGTGTTGA 0.408000 15 89 5.35267e-07 5.53777e-07 1 1 0 PPP1R16B 26051 broad.mit.edu 37 20 37524319 37524319 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr20:37524319G>C ENST00000299824.1 + 4 622 c.433G>C c.(433-435)Ggc>Cgc p.G145R PPP1R16B_ENST00000373331.2_Missense_Mutation_p.G145R NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 145 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) AGCCACCTGCGGCCACATCAA 0.552000 4 23 0 0 1 0 0 TTLL13 440307 broad.mit.edu 37 15 90799029 90799029 + Missense_Mutation SNP G G T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr15:90799029G>T ENST00000438251.1 + 5 750 c.460G>T c.(460-462)Gat>Tat p.D154Y TTLL13_ENST00000339615.5_Missense_Mutation_p.D154Y|RP11-697E2.6_ENST00000561573.1_Intron A6NNM8 TTL13_HUMAN tubulin tyrosine ligase-like family, member 13 154 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 16 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) CTGCCGCAAAGATCTGCTGGC 0.532000 48 251 2.31418e-15 2.51755e-15 1 1 0 PURB 5814 broad.mit.edu 37 7 44924166 44924166 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr7:44924166G>C ENST00000395699.2 - 1 794 c.782C>G c.(781-783)cCc>cGc p.P261R NM_033224.3 NP_150093.1 Q96QR8 PURB_HUMAN purine-rich element binding protein B 261 regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding large_intestine(2)|lung(3)|prostate(1)|skin(1) 7 GGCTTTGAAGGGTACGGTGAT 0.542000 40 59 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 3 24 0 0 1 0 0 SLMO2 51012 broad.mit.edu 37 20 57611559 57611559 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr20:57611559C>T ENST00000355937.4 - 5 610 c.432G>A c.(430-432)ctG>ctA p.L144L SLMO2_ENST00000371033.5_Silent_p.L114L NM_016045.2 NP_057129.2 Q9Y3B1 SLMO2_HUMAN slowmo homolog 2 (Drosophila) 144 PRELI/MSF1. endometrium(1)|lung(2)|skin(2) 5 all_lung(29;0.00711) Colorectal(105;0.109) TACTTGCCATCAGTCCTTCAA 0.428000 44 48 0 0 1 0 0 C15orf59 388135 broad.mit.edu 37 15 74032576 74032576 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr15:74032576G>A ENST00000569673.1 - 3 1768 c.564C>T c.(562-564)ttC>ttT p.F188F C15orf59_ENST00000379822.4_Silent_p.F188F|C15orf59_ENST00000558834.1_5'UTR Q2T9L4 CO059_HUMAN chromosome 15 open reading frame 59 188 breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CTTTGTCACTGAACCGCACCC 0.642000 8 31 0 0 1 0 0 ZNF3 7551 broad.mit.edu 37 7 99673192 99673192 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr7:99673192C>T ENST00000303915.6 - 3 1084 c.117G>A c.(115-117)gcG>gcA p.A39A ZNF3_ENST00000424697.1_Silent_p.A39A|ZNF3_ENST00000413658.2_Silent_p.A39A|ZNF3_ENST00000299667.4_Silent_p.A39A P17036 ZNF3_HUMAN zinc finger protein 3 39 cell differentiation|leukocyte activation|multicellular organismal development nucleus DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 25 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029) STAD - Stomach adenocarcinoma(171;0.129) GGAGCGCAGCCGCCAACATCT 0.502000 7 35 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18847849 18847849 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr16:18847849G>A ENST00000446231.2 - 47 8022 c.7610C>T c.(7609-7611)tCt>tTt p.S2537F SMG1_ENST00000389467.3_Missense_Mutation_p.S2537F Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 2537 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 GGTGTGCTCAGAATACCTAAT 0.423000 10 62 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10030376 10030376 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr20:10030376G>A ENST00000378380.3 + 6 1488 c.1159G>A c.(1159-1161)Gga>Aga p.G387R SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.G387R NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 GAAAACCCGGGGAGGAGGGGT 0.433000 10 70 0 0 1 0 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812804 31812804 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr21:31812804G>A ENST00000334067.3 + 1 208 c.159G>A c.(157-159)gaG>gaA p.E53E NM_181623.1 NP_853654.1 Q3LI76 KR151_HUMAN keratin associated protein 15-1 53 intermediate filament kidney(1)|large_intestine(3)|lung(6)|skin(1) 11 GCTGTCAGGAGACCTACTGTG 0.498000 12 54 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144946932 144946932 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr8:144946932C>T ENST00000525985.1 - 2 561 c.490G>A c.(490-492)Gcc>Acc p.A164T P58107 EPIPL_HUMAN epiplakin 1 164 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACTCCCTGGGCGGGGTCCACC 0.682000 14 11 0 0 1 0 0 ARHGEF3 50650 broad.mit.edu 37 3 56789118 56789118 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:56789118C>G ENST00000413728.2 - 3 827 c.284G>C c.(283-285)aGa>aCa p.R95T ARHGEF3_ENST00000296315.3_Missense_Mutation_p.R89T|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.R121T|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.R89T|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.R95T|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.R60T NM_001128616.1 NP_001122088.1 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor (GEF) 3 89 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) GGCGGCATTTCTGGACCAGGG 0.552000 61 51 0 0 1 0 0 RFC1 5981 broad.mit.edu 37 4 39304383 39304383 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr4:39304383G>C ENST00000381897.1 - 17 2450 c.2317C>G c.(2317-2319)Caa>Gaa p.Q773E RFC1_ENST00000349703.2_Missense_Mutation_p.Q772E NM_001204747.1|NM_002913.4 NP_001191676.1|NP_002904.3 P35251 RFC1_HUMAN replication factor C (activator 1) 1, 145kDa 773 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 CGAGGTCTTTGAAAACGAAGA 0.318000 17 51 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152281716 152281716 + Silent SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:152281716C>T ENST00000368799.1 - 3 5681 c.5646G>A c.(5644-5646)ggG>ggA p.G1882G FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1882 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGTGACGCGACCCTGAGTGCC 0.572000 Ichthyosis 45 276 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42224903 42224903 + Silent SNP C C A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr19:42224903C>A ENST00000221992.6 + 8 1947 c.1833C>A c.(1831-1833)ctC>ctA p.L611L CEACAM5_ENST00000405816.1_Silent_p.L611L|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.L610L NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 611 Ig-like 7. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) GAGCGAACCTCAACCTCTCCT 0.532000 33 314 1.21669e-08 1.26606e-08 1 1 0 SLC35G3 146861 broad.mit.edu 37 17 33521267 33521267 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr17:33521267G>A ENST00000297307.5 - 1 145 c.60C>T c.(58-60)tcC>tcT p.S20S NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 20 integral to membrane TGGGTGGAGCGGAGGGCGGCG 0.662000 4 88 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124732495 124732495 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:124732495G>A ENST00000311127.4 - 6 1995 c.1928C>T c.(1927-1929)cCg>cTg p.P643L HEG1_ENST00000477536.1_5'UTR NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 643 Ser-rich. extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 CGAAGTGTTCGGCATATTAAT 0.498000 6 11 0 0 1 0 0 DNAJC16 23341 broad.mit.edu 37 1 15870928 15870928 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:15870928G>A ENST00000375847.3 + 5 773 c.609G>A c.(607-609)gaG>gaA p.E203E DNAJC16_ENST00000375849.1_Silent_p.E203E|DNAJC16_ENST00000375838.1_Silent_p.E203E NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 203 Thioredoxin. cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) CTGGGTATGAGAGACGCCTGG 0.483000 8 32 0 0 1 0 0 DTNBP1 84062 broad.mit.edu 37 6 15523372 15523372 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr6:15523372G>C ENST00000344537.5 - 10 1062 c.890C>G c.(889-891)tCt>tGt p.S297C DTNBP1_ENST00000462989.2_Missense_Mutation_p.S141C|DTNBP1_ENST00000355917.3_Missense_Mutation_p.S298C NM_032122.4 NP_115498.2 Q96EV8 DTBP1_HUMAN dystrobrevin binding protein 1 297 Dysbindin. actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 14 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) GGAGGAAGAAGAAGGTGGCTT 0.542000 Hermansky-Pudlak syndrome 21 87 0 0 1 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16822525 16822525 + Missense_Mutation SNP A A G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr11:16822525A>G ENST00000355661.3 - 17 2415 c.2405T>C c.(2404-2406)tTc>tCc p.F802S PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.F802S|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.F802S Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 802 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 GGTCACCTGGAAAAAAAAGGC 0.443000 18 69 0 0 1 0 0 ZBTB21 49854 broad.mit.edu 37 21 43414218 43414218 + Splice_Site SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr21:43414218C>G ENST00000310826.5 - 3 171 c.e3-1 ZBTB21_ENST00000398511.3_Splice_Site|ZBTB21_ENST00000398499.1_Splice_Site|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Splice_Site NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 TTGAGTTTATCTAAAAGACAA 0.443000 43 23 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30702144 30702144 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr8:30702144C>G ENST00000256246.2 - 1 4464 c.4390G>C c.(4390-4392)Gtt>Ctt p.V1464L NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1464 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GCTTGTTTAACTTTCCACGTT 0.343000 10 50 0 0 1 0 0 ATP5A1 498 broad.mit.edu 37 18 43664504 43664504 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr18:43664504C>G ENST00000593152.2 - 11 1935 c.1396G>C c.(1396-1398)Gtc>Ctc p.V466L ATP5A1_ENST00000398752.6_Missense_Mutation_p.V516L|ATP5A1_ENST00000590665.1_Missense_Mutation_p.V494L|ATP5A1_ENST00000282050.2_Missense_Mutation_p.V516L NM_001257335.1 NP_001244264.1 P25705 ATPA_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle 516 ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain mitochondrial matrix|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1) 22 TGCTGGCTGACGACATGAGAC 0.378000 6 68 0 0 1 0 0 CD19 930 broad.mit.edu 37 16 28946784 28946784 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr16:28946784G>A ENST00000538922.1 + 5 917 c.855G>A c.(853-855)ctG>ctA p.L285L CD19_ENST00000567541.1_Silent_p.L285L|CD19_ENST00000324662.3_Silent_p.L285L NM_001178098.1|NM_001770.5 NP_001171569.1|NP_001761.3 P15391 CD19_HUMAN CD19 molecule 285 cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 ACTGGCTGCTGAGGACTGGTG 0.532000 12 32 0 0 1 0 0 KLHL41 10324 broad.mit.edu 37 2 170367360 170367360 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:170367360G>C ENST00000284669.1 + 1 1149 c.1072G>C c.(1072-1074)Gaa>Caa p.E358Q BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron NM_006063.2 NP_006054.2 kelch-like family member 41 TGTGGATGAAGAAAATAAGGA 0.408000 27 27 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82387994 82387994 + Missense_Mutation SNP T T C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr7:82387994T>C ENST00000333891.9 - 25 15663 c.15326A>G c.(15325-15327)aAg>aGg p.K5109R NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AATCAAGGTCTTTTTCATAAA 0.333000 17 72 0 0 1 0 0 TMF1 7110 broad.mit.edu 37 3 69093692 69093692 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:69093692G>C ENST00000543976.1 - 3 1657 c.1411C>G c.(1411-1413)Ctt>Gtt p.L471V CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.L468V|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA NM_007114.2 NP_009045.2 P82094 TMF1_HUMAN TATA element modulatory factor 1 468 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) TCCTTACTAAGAGATAATAAC 0.338000 27 63 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24389718 24389718 + Missense_Mutation SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:24389718G>C ENST00000330966.7 - 32 3839 c.3677C>G c.(3676-3678)tCt>tGt p.S1226C RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.S1223C|MYOM3_ENST00000338909.5_Missense_Mutation_p.S116C Q5VTT5 MYOM3_HUMAN myomesin 3 1223 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TGGAGTTGCAGAGAGGGCTGG 0.557000 30 27 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133541104 133541104 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:133541104C>T ENST00000409261.1 - 14 3653 c.3280G>A c.(3280-3282)Gat>Aat p.D1094N NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D1094N NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1094 Ser-rich. protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GAGGCGCTATCATTCAATTGT 0.498000 44 90 0 0 1 0 0 ATHL1 80162 broad.mit.edu 37 11 294638 294638 + Missense_Mutation SNP C C A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr11:294638C>A ENST00000409548.2 + 14 2218 c.2103C>A c.(2101-2103)ttC>ttA p.F701L ATHL1_ENST00000409479.1_Missense_Mutation_p.F728L|ATHL1_ENST00000409655.1_Missense_Mutation_p.F453L NM_025092.4 NP_079368.3 Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 (yeast) 701 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3) 17 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) GCTCCGAGTTCCCTGGGAGGA 0.622000 33 118 9.04072e-19 9.89517e-19 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25427356 25427356 + RNA SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr15:25427356G>C ENST00000424208.1 + 0 153 NR_003305.1 GTTGAGCCCAGAGGAAGACTT 0.612000 3 0 0 0 1 0 0 REPIN1 29803 broad.mit.edu 37 7 150069065 150069065 + Missense_Mutation SNP C C A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr7:150069065C>A ENST00000397281.2 + 4 1224 c.735C>A c.(733-735)ttC>ttA p.F245L REPIN1_ENST00000540729.1_Missense_Mutation_p.F245L|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000425389.2_Missense_Mutation_p.F245L|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.F302L|REPIN1_ENST00000444957.1_Missense_Mutation_p.F245L NM_013400.3 NP_037532.2 Q9BWE0 REPI1_HUMAN replication initiator 1 245 DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) GCAAGCGCTTCCGGCACAAGC 0.716000 28 33 6.38683e-12 6.8444e-12 1 1 0 ITPR2 3709 broad.mit.edu 37 12 26812147 26812147 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr12:26812147G>A ENST00000381340.3 - 16 2201 c.1785C>T c.(1783-1785)atC>atT p.I595I NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 595 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) ACAAAGCTGTGATAGTATCTT 0.378000 23 449 0 0 1 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186790697 186790697 + Missense_Mutation SNP G G T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:186790697G>T ENST00000169298.3 + 6 1440 c.766G>T c.(766-768)Gta>Tta p.V256L ST6GAL1_ENST00000448044.1_Missense_Mutation_p.V256L|ST6GAL1_ENST00000457772.2_Missense_Mutation_p.V25L NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 256 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) AATCCTAATTGTATGGGACCC 0.438000 40 140 6.68952e-21 7.34415e-21 1 1 0 TNRC6A 27327 broad.mit.edu 37 16 24788436 24788436 + Nonsense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr16:24788436C>T ENST00000395799.3 + 5 475 c.346C>T c.(346-348)Cag>Tag p.Q116* TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.Q116* NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 116 Gln-rich. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) gccacagccgcagccgcagca 0.597000 11 20 0 0 1 0 0 ST8SIA1 6489 broad.mit.edu 37 12 22440139 22440139 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr12:22440139C>T ENST00000396037.4 - 2 806 c.325G>A c.(325-327)Ggg>Agg p.G109R ST8SIA1_ENST00000539510.1_Silent_p.T2T NM_003034.3 NP_003025.1 Q92185 SIA8A_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 109 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 AAAAACTCCCCGTCATACCAC 0.418000 4 103 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130360553 130360553 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:130360553C>T ENST00000358511.6 + 28 5180 c.5149C>T c.(5149-5151)Cgt>Tgt p.R1717C COL6A6_ENST00000453409.2_Missense_Mutation_p.R1717C NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1717 Triple-helical region. 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 ACCTCCTGGACGTAAGGTAAG 0.383000 9 7 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207644344 207644344 + Missense_Mutation SNP G G T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:207644344G>T ENST00000367057.3 + 8 1594 c.1405G>T c.(1405-1407)Gca>Tca p.A469S CR2_ENST00000367059.3_Missense_Mutation_p.A469S|CR2_ENST00000458541.2_Missense_Mutation_p.A469S|CR2_ENST00000367058.3_Missense_Mutation_p.A469S NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 469 Sushi 8. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TTTCTTAGTGGCAGCGTGTGA 0.438000 19 51 1.55795e-14 1.68465e-14 1 1 0 SIRT7 51547 broad.mit.edu 37 17 79872317 79872317 + Silent SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr17:79872317C>G ENST00000328666.6 - 7 731 c.669G>C c.(667-669)cgG>cgC p.R223R NM_016538.2 NP_057622.1 Q9NRC8 SIRT7_HUMAN sirtuin 7 223 Deacetylase sirtuin-type. chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription cytoplasm|nucleolus organizer region hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) TGTGGCAGGTCCGGCCTGTCT 0.632000 7 14 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45871896 45871896 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr19:45871896G>A ENST00000391945.4 - 5 429 c.352C>T c.(352-354)Cac>Tac p.H118Y ERCC2_ENST00000221481.6_Missense_Mutation_p.H118Y|ERCC2_ENST00000485403.2_Missense_Mutation_p.H94Y|ERCC2_ENST00000391940.4_Missense_Mutation_p.H94Y|ERCC2_ENST00000391944.3_Missense_Mutation_p.H118Y NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 118 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) ACCTCAGGGTGAATACACAAG 0.522000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 18 14 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62778440 62778440 + Nonsense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr4:62778440C>T ENST00000512091.2 + 12 2620 c.1873C>T c.(1873-1875)Cag>Tag p.Q625* LPHN3_ENST00000506746.1_Nonsense_Mutation_p.Q693*|LPHN3_ENST00000545650.1_Nonsense_Mutation_p.Q625*|LPHN3_ENST00000507164.1_Nonsense_Mutation_p.Q693*|LPHN3_ENST00000514591.1_Nonsense_Mutation_p.Q625*|LPHN3_ENST00000509896.1_Nonsense_Mutation_p.Q693*|LPHN3_ENST00000508946.1_Nonsense_Mutation_p.Q625*|LPHN3_ENST00000504896.1_Nonsense_Mutation_p.Q625*|LPHN3_ENST00000511324.1_Nonsense_Mutation_p.Q693*|LPHN3_ENST00000514157.1_Nonsense_Mutation_p.Q625*|LPHN3_ENST00000506700.1_Nonsense_Mutation_p.Q625*|LPHN3_ENST00000508693.1_Nonsense_Mutation_p.Q693*|LPHN3_ENST00000506720.1_Nonsense_Mutation_p.Q693*|LPHN3_ENST00000514996.1_Nonsense_Mutation_p.Q625*|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.Q693* Q9HAR2 LPHN3_HUMAN latrophilin 3 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 GATTCAGCTTCAGAAAAGAGA 0.358000 55 40 0 0 1 0 0 ERMP1 79956 broad.mit.edu 37 9 5810173 5810173 + Silent SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr9:5810173G>A ENST00000339450.5 - 8 1475 c.1386C>T c.(1384-1386)ttC>ttT p.F462F ERMP1_ENST00000543230.1_Silent_p.F40F|ERMP1_ENST00000381506.3_Silent_p.F238F|ERMP1_ENST00000214893.5_5'UTR NM_024896.2 NP_079172.2 Q7Z2K6 ERMP1_HUMAN endoplasmic reticulum metallopeptidase 1 462 proteolysis endoplasmic reticulum membrane|integral to membrane metal ion binding|metallopeptidase activity endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1) 20 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111) CAAGGCTAGTGAACCAGCTGA 0.403000 87 95 0 0 1 0 0 TXNDC16 57544 broad.mit.edu 37 14 52899095 52899095 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr14:52899095C>G ENST00000281741.4 - 21 2776 c.2405G>C c.(2404-2406)aGa>aCa p.R802T NM_001160047.1|NM_020784.2 NP_001153519.1|NP_065835.2 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 802 cell redox homeostasis extracellular region breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1) 21 Breast(41;0.0716) CCAATTACTTCTATTCCAATG 0.338000 14 28 0 0 1 0 0 RAD54L 8438 broad.mit.edu 37 1 46725664 46725664 + Silent SNP G G C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:46725664G>C ENST00000371975.4 + 5 974 c.300G>C c.(298-300)ctG>ctC p.L100L RAD54L_ENST00000442598.1_Silent_p.L100L NM_003579.3 NP_003570.2 Q92698 RAD54_HUMAN RAD54-like (S. cerevisiae) 100 meiosis nucleus ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 25 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) CATTGGGCCTGAAAAGGGCTG 0.557000 Direct reversal of damage;Homologous recombination 65 42 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124390511 124390511 + Silent SNP C C A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr10:124390511C>A ENST00000368909.3 + 46 5779 c.5673C>A c.(5671-5673)tcC>tcA p.S1891S DMBT1_ENST00000359586.6_Silent_p.S611S|DMBT1_ENST00000368955.3_Silent_p.S1881S|DMBT1_ENST00000368956.2_Silent_p.S1263S|DMBT1_ENST00000338354.3_Silent_p.S1891S|DMBT1_ENST00000344338.3_Silent_p.S1881S|DMBT1_ENST00000330163.4_Silent_p.S1263S NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1891 SRCR 14. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TAAATTCATCCTATGGTCTAT 0.478000 4 61 4.096e-09 4.28707e-09 1 1 0 ZNF236 7776 broad.mit.edu 37 18 74622751 74622751 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr18:74622751C>G ENST00000253159.8 + 16 2981 c.2783C>G c.(2782-2784)tCt>tGt p.S928C ZNF236_ENST00000320610.9_Missense_Mutation_p.S930C NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 928 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GCTCCCAGCTCTGATGGGATG 0.478000 22 34 0 0 1 0 0 HNRNPUL2 221092 broad.mit.edu 37 11 62489717 62489717 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr11:62489717C>G ENST00000301785.5 - 7 1423 c.1231G>C c.(1231-1233)Gaa>Caa p.E411Q HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.E411Q NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 411 B30.2/SPRY. cell killing nucleus ATP binding|nucleic acid binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 AAGTTTAATTCTACAACACAA 0.507000 37 52 0 0 1 0 0 SYT16 83851 broad.mit.edu 37 14 62542005 62542005 + Missense_Mutation SNP A A G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr14:62542005A>G ENST00000430451.2 + 3 1086 c.889A>G c.(889-891)Agg>Ggg p.R297G SYT16_ENST00000446982.2_Missense_Mutation_p.R297G|RP11-355I22.5_ENST00000553990.1_lincRNA NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 297 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) CCAAAGCCTCAGGCGCCAATC 0.542000 10 32 0 0 1 0 0 TFRC 7037 broad.mit.edu 37 3 195778965 195778965 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:195778965C>T ENST00000360110.4 - 19 2300 c.2131G>A c.(2131-2133)Gct>Act p.A711T TFRC_ENST00000392396.3_Missense_Mutation_p.A711T|TFRC_ENST00000420415.1_Missense_Mutation_p.A630T|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.A429T NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 711 Ligand-binding. cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) TCCAGTAAAGCTGGCAGCGTG 0.473000 T BCL6 NHL 6 32 0 0 1 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46057503 46057503 + Missense_Mutation SNP T T C TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr21:46057503T>C ENST00000380095.1 + 1 231 c.169T>C c.(169-171)Tgt>Cgt p.C57R TSPEAR_ENST00000323084.4_Intron NM_181688.1 NP_859016.1 P60014 KR10A_HUMAN keratin associated protein 10-10 57 15 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 CCAGACGGCCTGTGAGCCCAG 0.662000 15 51 0 0 1 0 0 RNF207 388591 broad.mit.edu 37 1 6279322 6279323 + Frame_Shift_Del DEL AG AG - TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:6279322_6279323delAG ENST00000377939.4 + 18 1887_1888 c.1760_1761delAG c.(1759-1761)aagfs p.K587fs RNF207_ENST00000483336.1_3'UTR|RNF207_ENST00000377948.2_3'UTR NM_207396.2 NP_997279.2 Q6ZRF8 RN207_HUMAN ring finger protein 207 587 intracellular zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2) 16 Ovarian(185;0.0634) all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|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;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) GTCCCGGAAAAGAGAGAGAAGA 0.495 20 43 --- --- --- --- PRAMEF4 400735 broad.mit.edu 37 1 12939700 12939700 + Frame_Shift_Del DEL G G - TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:12939700delG ENST00000235349.5 - 4 1172 c.1102delC c.(1102-1104)caafs p.Q368fs NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 368 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCGTTGACTTGGGAGTCTATG 0.507 13 504 --- --- --- --- MAGOH 4116 broad.mit.edu 37 1 53694617 53694617 + Frame_Shift_Del DEL T T - TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:53694617delT ENST00000371470.3 - 4 429 c.268delA c.(268-270)atcfs p.I90fs MAGOH_ENST00000371466.4_Frame_Shift_Del_p.I53fs NM_002370.3 NP_002361.1 P61326 MGN_HUMAN mago-nashi homolog, proliferation-associated (Drosophila) 90 mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1) 6 CCAATGACGATTTCAAGCTCC 0.338 8 36 --- --- --- --- RBMXL1 494115 broad.mit.edu 37 1 89448500 89448501 + In_Frame_Ins INS - - CAT TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr1:89448500_89448501insCAT ENST00000399794.2 - 3 1724_1725 c.1009_1010insATG c.(1009-1011)agt>aATGgt p.337_337S>NG CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_In_Frame_Ins_p.337_337S>NG|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron NM_001162536.2 NP_001156008.1 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 337 Ser-rich. nucleotide binding|RNA binding CCTGTCACAACTTGAGTAGAGA 0.500 8 159 --- --- --- --- EPC2 26122 broad.mit.edu 37 2 149526762 149526762 + Frame_Shift_Del DEL G G - TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr2:149526762delG ENST00000258484.6 + 8 1217 c.1183delG c.(1183-1185)gatfs p.D395fs NM_015630.3 NP_056445.3 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 (Drosophila) 395 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) AAATGATCCTGATGGTCCCTG 0.403 3 5 --- --- --- --- BRPF1 7862 broad.mit.edu 37 3 9783053 9783062 + Frame_Shift_Del DEL GGCATGACTT GGCATGACTT - TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr3:9783053_9783062delGGCATGACTT ENST00000383829.2 + 5 2188_2197 c.1784_1793delGGCATGACTT c.(1783-1794)cggcatgacttgfs p.RHDL595fs BRPF1_ENST00000433861.2_Frame_Shift_Del_p.RHDL595fs|BRPF1_ENST00000457855.1_Frame_Shift_Del_p.RHDL595fs|BRPF1_ENST00000302054.3_Frame_Shift_Del_p.RHDL595fs|BRPF1_ENST00000424362.1_Frame_Shift_Del_p.RHDL595fs NM_001003694.1 NP_001003694.1 P55201 BRPF1_HUMAN bromodomain and PHD finger containing, 1 595 Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation. 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) CAGCGGCTCCGGCATGACTTGGAGCGAGCT 0.500 7 199 --- --- --- --- AP3B1 8546 broad.mit.edu 37 5 77406046 77406046 + Frame_Shift_Del DEL G G - TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr5:77406046delG ENST00000255194.6 - 20 2557 c.2382delC c.(2380-2382)tccfs p.S794fs AP3B1_ENST00000519295.1_Frame_Shift_Del_p.S745fs NM_001271769.1 NP_001258698.1 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit 794 Glu/Ser-rich. endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) TGACTCTTCTGGATTCAGATT 0.338 Hermansky-Pudlak syndrome 11 21 --- --- --- --- TNRC18 84629 broad.mit.edu 37 7 5353113 5353114 + Frame_Shift_Ins INS - - T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr7:5353113_5353114insT ENST00000399537.4 - 27 7756_7757 c.7408_7409insA c.(7408-7410)acgfs p.T2470fs TNRC18_ENST00000430969.1_Frame_Shift_Ins_p.T2470fs O15417 TNC18_HUMAN trinucleotide repeat containing 18 2470 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) TTTGGGTGACGTGACACCCTCG 0.693 12 9 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61822997 61822997 + Frame_Shift_Del DEL G G - TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr10:61822997delG ENST00000280772.2 - 40 12658 c.12467delC c.(12466-12468)tcgfs p.S4156fs ANK3_ENST00000373827.2_Frame_Shift_Del_p.S1537fs|ANK3_ENST00000503366.1_Frame_Shift_Del_p.S1544fs|ANK3_ENST00000355288.2_Frame_Shift_Del_p.S677fs NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) Death. 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 TGTCAAGACCGAAGTTAAGGC 0.353 12 19 --- --- --- --- LDHB 3945 broad.mit.edu 37 12 21790006 21790007 + Splice_Site DEL TT TT - TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr12:21790006_21790007delTT ENST00000396076.1 - 7 1167_1168 c.835_836delAA c.(835-837)aag>g p.K279fs LDHB_ENST00000350669.1_Splice_Site_p.K279fs NM_001174097.1 NP_001167568.1 P07195 LDHB_HUMAN lactate dehydrogenase B 279 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 26 NADH(DB00157) TTGTCTTACCTTTACCATTGTT 0.342 29 50 --- --- --- --- PIBF1 10464 broad.mit.edu 37 13 73395994 73395997 + Frame_Shift_Del DEL AGGA AGGA - TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr13:73395994_73395997delAGGA ENST00000326291.6 + 6 1018_1021 c.680_683delAGGA c.(679-684)gaggaafs p.EE227fs NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 227 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) TAGACATATGAGGAAGATCGAAAA 0.348 10 54 --- --- --- --- TBC1D3P1-DHX40P1 653645 broad.mit.edu 37 17 58090681 58090681 + RNA DEL T T - TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr17:58090681delT ENST00000407042.3 - 0 609 CTCTGAATGATTTTTTTTTTT 0.458 2 4 --- --- --- --- EPG5 57724 broad.mit.edu 37 18 43467788 43467788 + Frame_Shift_Del DEL G G - TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr18:43467788delG ENST00000282041.5 - 29 5071 c.5037delC c.(5035-5037)tacfs p.Y1679fs EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1679 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 CATCGCTGACGTAATCCACAA 0.463 17 179 --- --- --- --- CELSR1 9620 broad.mit.edu 37 22 46929858 46929859 + Frame_Shift_Del DEL AT AT - TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chr22:46929858_46929859delAT ENST00000262738.3 - 1 3208_3209 c.3209_3210delAT c.(3208-3210)tatfs p.Y1070fs CELSR1_ENST00000395964.1_Frame_Shift_Del_p.Y1070fs|CELSR1_ENST00000497509.1_5'UTR NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1070 Cadherin 8. 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) CCACCAGCACATACTCCCGCCG 0.629 8 35 --- --- --- --- PQBP1 10084 broad.mit.edu 37 X 48760019 48760019 + Frame_Shift_Del DEL A A - TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chrX:48760019delA ENST00000218224.4 + 5 842 c.588delA c.(586-588)cgafs p.R196fs PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000396763.1_Frame_Shift_Del_p.R196fs|PQBP1_ENST00000376563.1_Frame_Shift_Del_p.R196fs|PQBP1_ENST00000376566.4_Frame_Shift_Del_p.R101fs|PQBP1_ENST00000247140.4_Frame_Shift_Del_p.R101fs|PQBP1_ENST00000447146.2_Frame_Shift_Del_p.R196fs NM_005710.2 NP_005701.1 O60828 PQBP1_HUMAN polyglutamine binding protein 1 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|transcription coactivator activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2) 11 CAGTAAGCCGAAAGGATGAAG 0.562 2 4 --- --- --- --- IKBKG 8517 broad.mit.edu 37 X 153770605 153770605 + Frame_Shift_Del DEL G G - TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc19a22-4906-4c0d-a0f2-75bc48b3f25f d5d442ad-6a73-4e28-acdc-e12a8919b814 g.chrX:153770605delG ENST00000369609.5 + 1 147 c.127delG c.(127-129)gggfs p.G43fs G6PD_ENST00000497281.1_Intron|G6PD_ENST00000393562.2_Intron|G6PD_ENST00000369620.2_Intron|IKBKG_ENST00000369607.1_Intron|G6PD_ENST00000393564.2_Intron NM_001099856.2 NP_001093326.2 Q9Y6K9 NEMO_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0 activation of MAPK activity|induction of apoptosis|innate immune response|interspecies interaction between organisms|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleus metal ion binding|protein domain specific binding|signal transducer activity endometrium(1)|lung(1) 2 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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) CCCATCAGGTGGGGAAAGATG 0.567 2 4 --- --- --- ---