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 TARBP1 6894 broad.mit.edu 37 1 234565942 234565942 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:234565942G>A ENST00000040877.1 - 15 2499 c.2500C>T c.(2500-2502)Cat>Tat p.H834Y NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 834 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) GGCCCAGCATGGAGAGAGTCC 0.557000 40 64 0 0 0.000191422 0 0 DSCAM 1826 broad.mit.edu 37 21 41465790 41465790 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr21:41465790C>T ENST00000400454.1 - 21 4185 c.3708G>A c.(3706-3708)gaG>gaA p.E1236E NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1236 Fibronectin type-III 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AGGCCTCAAACTCGCTGATCA 0.458000 12 31 0 0 0.000219431 0 0 LILRA2 11027 broad.mit.edu 37 19 55086450 55086450 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:55086450C>T ENST00000251377.3 + 5 738 c.605C>T c.(604-606)tCt>tTt p.S202F LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S202F|LILRA2_ENST00000391737.1_Missense_Mutation_p.S190F|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.S202F leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) GACTCGAACTCTCCCTATGTG 0.577000 20 115 0 0 0.000295444 0 0 FBXO46 23403 broad.mit.edu 37 19 46215078 46215078 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:46215078C>T ENST00000317683.3 - 2 1809 c.1676G>A c.(1675-1677)gGa>gAa p.G559E NM_001080469.1 NP_001073938.1 Q6PJ61 FBX46_HUMAN F-box protein 46 559 protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) GTAGGAACGTCCGTAAGGCAG 0.642000 17 15 0 0 0.000132079 0 0 ENOX1 55068 broad.mit.edu 37 13 43843642 43843642 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr13:43843642G>A ENST00000261488.6 - 13 2095 c.1518C>T c.(1516-1518)tcC>tcT p.S506S ENOX1_ENST00000412891.1_Silent_p.S506S NM_001242863.1|NM_017993.3 NP_001229792.1|NP_060463.2 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 506 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1) 34 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) CTTGTGTATGGGACTGCTCTT 0.398000 49 116 0 0 0.000781405 0 0 IGHV3-43 28426 broad.mit.edu 37 14 106926190 106926190 + RNA SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr14:106926190C>T ENST00000434710.1 - 0 431 CACTGTGTATCTTTTGCACAG 0.532000 11 122 0 0 0.000586117 0 0 TXNDC2 84203 broad.mit.edu 37 18 9886650 9886650 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:9886650C>T ENST00000306084.6 + 2 373 c.174C>T c.(172-174)gcC>gcT p.A58A TXNDC2_ENST00000536353.2_5'UTR|TXNDC2_ENST00000357775.4_5'UTR|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000584255.1_3'UTR NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 58 cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 TGGAAATAGCCCAGGCCAAAG 0.478000 22 41 0 0 0.000227799 0 0 NAALAD2 10003 broad.mit.edu 37 11 89891372 89891372 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:89891372C>T ENST00000534061.1 + 7 1086 c.856C>T c.(856-858)Ccc>Tcc p.P286S NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.P286S NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 286 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) ACCTGTACATCCCATTGGATA 0.299000 33 112 0 0 0.000814825 0 0 PLXNB3 5365 broad.mit.edu 37 X 153043033 153043033 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chrX:153043033G>A ENST00000538966.1 + 32 5491 c.5220G>A c.(5218-5220)gtG>gtA p.V1740V PLXNB3_ENST00000485980.1_3'UTR|SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000538776.1_Silent_p.V1370V|PLXNB3_ENST00000361971.5_Silent_p.V1717V NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 1717 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) TTCTCAGCGTGAACCGGCCCA 0.612000 6 53 0 0 3.59834e-05 0 0 GPC2 221914 broad.mit.edu 37 7 99769797 99769797 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:99769797G>A ENST00000292377.2 - 6 1103 c.936C>T c.(934-936)tcC>tcT p.S312S GPC2_ENST00000471050.1_5'UTR NM_152742.1 NP_689955.1 Q8N158 GPC2_HUMAN glypican 2 312 anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3) 18 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCAGCTCAAAGGAAAAGGGGC 0.537000 8 52 0 0 0.000274275 0 0 POMGNT1 55624 broad.mit.edu 37 1 46657986 46657986 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:46657986C>T ENST00000371992.1 - 16 2057 c.1407G>A c.(1405-1407)ccG>ccA p.P469P POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371984.3_Silent_p.P469P|POMGNT1_ENST00000371986.3_Silent_p.P469P|POMGNT1_ENST00000535522.1_Silent_p.P447P NM_001243766.1 NP_001230695.1 Q8WZA1 PMGT1_HUMAN protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 469 protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(166;0.155) TTACCTTTTCCGGTGTAGGCC 0.572000 23 42 0 0 0.00047179 0 0 ACSF2 80221 broad.mit.edu 37 17 48539911 48539911 + Missense_Mutation SNP T T C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:48539911T>C ENST00000427954.2 + 7 875 c.832T>C c.(832-834)Tcc>Ccc p.S278P ACSF2_ENST00000541920.1_Missense_Mutation_p.S93P|ACSF2_ENST00000502667.1_Missense_Mutation_p.S240P|ACSF2_ENST00000300441.4_Missense_Mutation_p.S253P|ACSF2_ENST00000504392.1_Missense_Mutation_p.S210P Q96CM8 ACSF2_HUMAN acyl-CoA synthetase family member 2 253 fatty acid metabolic process mitochondrion ATP binding|ligase activity endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1) 13 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) GCAGTTCCTGTCCTGCCATGA 0.617000 7 48 0 0 0.000157383 0 0 NT5E 4907 broad.mit.edu 37 6 86180955 86180955 + Splice_Site SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:86180955G>A ENST00000257770.3 + 3 612 c.562_splice c.e3-1 p.G188_splice NT5E_ENST00000369651.3_Splice_Site_p.G188_splice|NT5E_ENST00000369646.3_Splice_Site_p.G188_splice NM_002526.3 NP_002517.1 P21589 5NTD_HUMAN 5'-nucleotidase, ecto (CD73) 188 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) tGTTCCTTAGGGACAAATTTA 0.254000 4 10 0 0 0.00024832 0 0 GPC5 2262 broad.mit.edu 37 13 92345598 92345598 + Missense_Mutation SNP A A T rs144683011 byFrequency TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr13:92345598A>T ENST00000377067.3 + 3 855 c.483A>T c.(481-483)gaA>gaT p.E161D NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 161 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) ATCCTGAAGAATTTGTAAACA 0.453000 26 76 0 0 0.000184323 0 0 GBP1 2633 broad.mit.edu 37 1 89522681 89522681 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:89522681C>T ENST00000370473.4 - 7 1230 c.1011G>A c.(1009-1011)caG>caA p.Q337Q NM_002053.2 NP_002044.2 P32455 GBP1_HUMAN guanylate binding protein 1, interferon-inducible 337 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 30 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) GGCCCATCTGCTGTTCATAGT 0.567000 5 71 0 0 3.59834e-05 0 0 RNF40 9810 broad.mit.edu 37 16 30783229 30783229 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr16:30783229C>T ENST00000324685.6 + 18 3097 c.2662C>T c.(2662-2664)Cag>Tag p.Q888* RNF40_ENST00000567365.1_3'UTR|RNF40_ENST00000563683.1_Nonsense_Mutation_p.Q848*|RNF40_ENST00000402121.3_Nonsense_Mutation_p.Q580*|RNF40_ENST00000357890.5_Nonsense_Mutation_p.Q788* NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586.1 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 888 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) GCGGGAGATCCAGCCCTGCCT 0.647000 16 27 0 0 0.000308642 0 0 CABP2 51475 broad.mit.edu 37 11 67287292 67287292 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:67287292G>A ENST00000294288.4 - 6 678 c.609C>T c.(607-609)ctC>ctT p.L203L CABP2_ENST00000353903.5_Silent_p.L146L NM_016366.2 NP_057450.2 Q9NPB3 CABP2_HUMAN calcium binding protein 2 203 EF-hand 4. signal transduction Golgi apparatus|perinuclear region of cytoplasm|plasma membrane calcium ion binding endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 9 CGTCCCCATTGAGGTCCACGT 0.652000 21 20 0 0 0.000720815 0 0 RNASE10 338879 broad.mit.edu 37 14 20979015 20979015 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr14:20979015G>A ENST00000430083.1 + 2 873 c.469G>A c.(469-471)Gag>Aag p.E157K RNASE10_ENST00000328444.5_Missense_Mutation_p.E129K Q5GAN6 RNS10_HUMAN ribonuclease, RNase A family, 10 (non-active) 129 extracellular region nucleic acid binding|pancreatic ribonuclease activity p.E129*(1) endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1) 12 all_cancers(95;0.00123) Epithelial(56;1.81e-07)|all cancers(55;1.86e-06) GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191) CAAGATGAAGGAGCCCAGTCA 0.458000 11 13 0 0 0.00010058 0 0 DIP2A 23181 broad.mit.edu 37 21 47971610 47971610 + Missense_Mutation SNP C C G TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr21:47971610C>G ENST00000318711.7 + 24 3089 c.2906C>G c.(2905-2907)tCc>tGc p.S969C DIP2A_ENST00000427143.2_Missense_Mutation_p.S904C|DIP2A_ENST00000417564.2_Missense_Mutation_p.S968C|DIP2A_ENST00000400274.1_Missense_Mutation_p.S964C NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 968 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GCTCAGGCTTCCGGGAGAGAG 0.627000 8 23 0 0 0.000673444 0 0 WDR72 256764 broad.mit.edu 37 15 53908382 53908382 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr15:53908382C>T ENST00000396328.1 - 15 2260 c.2021G>A c.(2020-2022)tGg>tAg p.W674* WDR72_ENST00000557913.1_Nonsense_Mutation_p.W671*|WDR72_ENST00000559418.1_Nonsense_Mutation_p.W684*|WDR72_ENST00000360509.5_Nonsense_Mutation_p.W674* NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 674 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) AACGTTACTCCATTTTGTCTT 0.368000 14 26 0 0 0.000422831 0 0 ALDH7A1 501 broad.mit.edu 37 5 125891679 125891679 + Missense_Mutation SNP A A G TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:125891679A>G ENST00000409134.3 - 12 1256 c.1037T>C c.(1036-1038)gTt>gCt p.V346A ALDH7A1_ENST00000447989.2_Intron|ALDH7A1_ENST00000553117.1_Intron NM_001182.4|NM_001201377.1 NP_001173.2|NP_001188306.1 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 346 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) TCTGTTTACAACCTCATCATG 0.378000 5 38 0 0 3.59834e-05 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 5 69 0 0 3.59834e-05 0 0 GFRAL 389400 broad.mit.edu 37 6 55223697 55223697 + Missense_Mutation SNP G G T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:55223697G>T ENST00000340465.2 + 6 799 c.713G>T c.(712-714)aGa>aTa p.R238I NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 238 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AGGCACTATAGAACATTTCAG 0.388000 9 78 1.76689e-08 2.20938e-07 0.000442599 1 0 SVEP1 79987 broad.mit.edu 37 9 113221255 113221255 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr9:113221255G>A ENST00000401783.2 - 19 3797 c.3461C>T c.(3460-3462)tCc>tTc p.S1154F SVEP1_ENST00000302728.8_Missense_Mutation_p.S1154F|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.S1131F NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1154 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GATGGATCTGGAACCAGCGAA 0.448000 14 56 0 0 0.000566183 0 0 EIF4A3 9775 broad.mit.edu 37 17 78113496 78113496 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:78113496C>T ENST00000269349.3 - 6 780 c.559G>A c.(559-561)Gat>Aat p.D187N NM_014740.3 NP_055555.1 P38919 IF4A3_HUMAN eukaryotic translation initiation factor 4A3 187 Helicase ATP-binding. mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 10 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) TCAGCTTCATCCAAAACCAAC 0.323000 30 59 0 0 0.000279167 0 0 SERPINB7 8710 broad.mit.edu 37 18 61460426 61460426 + Missense_Mutation SNP T T G TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:61460426T>G ENST00000398019.2 + 4 576 c.251T>G c.(250-252)tTt>tGt p.F84C SERPINB7_ENST00000336429.2_Missense_Mutation_p.F84C|SERPINB7_ENST00000546027.1_Missense_Mutation_p.F84C|SERPINB7_ENST00000540675.1_Missense_Mutation_p.F67C NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 84 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) AAAAGAGTTTTTTCTGATATA 0.343000 17 49 0 0 0.000566183 0 0 ZNF611 81856 broad.mit.edu 37 19 53209661 53209661 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:53209661G>A ENST00000543227.1 - 6 921 c.647C>T c.(646-648)tCa>tTa p.S216L ZNF611_ENST00000602162.1_Missense_Mutation_p.S147L|ZNF611_ENST00000319783.1_Missense_Mutation_p.S216L|ZNF611_ENST00000540744.1_Missense_Mutation_p.S216L|ZNF611_ENST00000453741.2_Missense_Mutation_p.S147L|ZNF611_ENST00000595798.1_Missense_Mutation_p.S147L NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 216 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TGGGAGTAATGAAGAATTCAG 0.378000 40 152 0 0 0.000680045 0 0 RP1 6101 broad.mit.edu 37 8 55533756 55533756 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:55533756C>T ENST00000220676.1 + 2 378 c.230C>T c.(229-231)cCt>cTt p.P77L NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 77 Doublecortin 1. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GTGCCCCTCCCTTTTGGAGTG 0.612000 29 66 0 0 0.000814825 0 0 LPIN3 64900 broad.mit.edu 37 20 39978454 39978454 + Nonsense_Mutation SNP G G T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:39978454G>T ENST00000373257.3 + 6 770 c.679G>T c.(679-681)Gag>Tag p.E227* NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 227 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) GAGCGACTCGGAGCTGGAGGT 0.632000 10 27 5.50884e-06 6.75222e-05 0.00010058 1 0 CD5L 922 broad.mit.edu 37 1 157803299 157803299 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:157803299G>A ENST00000368174.4 - 5 818 c.722C>T c.(721-723)cCc>cTc p.P241L NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 241 apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CAAGTCAAAGGGATCTGCAGG 0.458000 14 72 0 0 0.000219431 0 0 CDH17 1015 broad.mit.edu 37 8 95183182 95183182 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:95183182G>A ENST00000027335.3 - 8 939 c.815C>T c.(814-816)tCc>tTc p.S272F CDH17_ENST00000450165.2_Missense_Mutation_p.S272F|CDH17_ENST00000441892.2_Intron NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 272 Cadherin 3. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) GTCAACTAAGGAATATTGTGC 0.448000 36 46 0 0 0.000692331 0 0 LOXL2 4017 broad.mit.edu 37 8 23225594 23225594 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:23225594G>A ENST00000389131.3 - 2 640 c.271C>T c.(271-273)Cac>Tac p.H91Y NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 91 SRCR 1. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) TGGGCAGCGTGGATGGAGAAG 0.642000 16 49 0 0 0.000422831 0 0 MYH1 4619 broad.mit.edu 37 17 10418201 10418201 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:10418201G>A ENST00000226207.5 - 6 611 c.517C>T c.(517-519)Cag>Tag p.Q173* CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 173 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 AAGATAGACTGATTCTCCCGA 0.323000 55 170 0 0 0.000781405 0 0 BTNL3 10917 broad.mit.edu 37 5 180424410 180424410 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:180424410G>A ENST00000342868.6 + 3 779 c.595G>A c.(595-597)Gaa>Aaa p.E199K NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 199 Ig-like V-type. lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) TATAGTCCAGGAAAATGCTGG 0.488000 14 19 0 0 0.000151284 0 0 AGBL1 123624 broad.mit.edu 37 15 86790961 86790961 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr15:86790961C>T ENST00000441037.2 + 6 543 c.448C>T c.(448-450)Cag>Tag p.Q150* AGBL1_ENST00000421325.2_Nonsense_Mutation_p.Q150* NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 150 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 CGGGCTGCACCAGGACTGGCA 0.632000 9 13 0 0 0.000442599 0 0 RBM11 54033 broad.mit.edu 37 21 15599221 15599221 + Silent SNP A A T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr21:15599221A>T ENST00000400577.3 + 5 462 c.453A>T c.(451-453)ccA>ccT p.P151P RBM11_ENST00000468643.1_3'UTR NM_144770.3 NP_658983.3 P57052 RBM11_HUMAN RNA binding motif protein 11 151 nucleotide binding|RNA binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) TGTATAATCCAGTGCTGCAGC 0.393000 35 97 0 0 0.000228196 0 0 NHSL2 340527 broad.mit.edu 37 X 71359490 71359490 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chrX:71359490G>A ENST00000373677.1 + 2 2256 c.994G>A c.(994-996)Gag>Aag p.E332K NHSL2_ENST00000540800.1_Missense_Mutation_p.E698K|NHSL2_ENST00000510661.1_Missense_Mutation_p.E467K|NHSL2_ENST00000535692.1_Missense_Mutation_p.E332K F5H593 F5H593_HUMAN NHS-like 2 698 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) GGAGGCCAGGGAGATATCATC 0.577000 15 7 0 0 0.000566183 0 0 SLC39A12 221074 broad.mit.edu 37 10 18276511 18276511 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr10:18276511C>T ENST00000377369.2 + 7 1473 c.1200C>T c.(1198-1200)atC>atT p.I400I SLC39A12_ENST00000539911.1_Silent_p.I266I|SLC39A12_ENST00000377371.3_Silent_p.I400I|SLC39A12_ENST00000377374.4_Silent_p.I400I NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 400 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 ACAGGCTTATCTTACAGCTGT 0.542000 22 63 0 0 0.000375601 0 0 SYT7 9066 broad.mit.edu 37 11 61291401 61291401 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:61291401C>T ENST00000263846.4 - 7 1132 c.805G>A c.(805-807)Gag>Aag p.E269K SYT7_ENST00000535826.1_Missense_Mutation_p.E388K|SYT7_ENST00000539008.1_Missense_Mutation_p.E552K|SYT7_ENST00000540677.1_Missense_Mutation_p.E344K|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542670.1_Missense_Mutation_p.E477K|SYT7_ENST00000542836.1_Missense_Mutation_p.E313K NM_004200.3 NP_004191.2 O43581 SYT7_HUMAN synaptotagmin VII 269 C2 2. cell junction|integral to membrane|synaptic vesicle membrane transporter activity kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 AAGAGCAGCTCCCCTCGGCTC 0.602000 26 59 0 0 0.000720815 0 0 CSMD3 114788 broad.mit.edu 37 8 113504731 113504731 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:113504731C>T ENST00000297405.5 - 31 5509 c.5265G>A c.(5263-5265)ttG>ttA p.L1755L CSMD3_ENST00000343508.3_Silent_p.L1715L|CSMD3_ENST00000352409.3_Silent_p.L1755L|CSMD3_ENST00000455883.2_Silent_p.L1651L NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1755 Sushi 9. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GACAACTTGGCAAGGCTCTAT 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 16 79 0 0 0.000566183 0 0 DDX24 57062 broad.mit.edu 37 14 94545401 94545401 + Missense_Mutation SNP T T C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr14:94545401T>C ENST00000330836.5 - 2 819 c.688A>G c.(688-690)Aaa>Gaa p.K230E DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_Missense_Mutation_p.K187E NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 230 Helicase ATP-binding. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) ATGTCCAGTTTGTCACGGATG 0.547000 27 59 0 0 0.000147802 0 0 SBK2 646643 broad.mit.edu 37 19 56047472 56047472 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:56047472C>T ENST00000413299.1 - 2 227 c.190G>A c.(190-192)Gaa>Aaa p.E64K SBK2_ENST00000344158.3_Missense_Mutation_p.E64K NM_001101401.2 NP_001094871.2 P0C263 SBK2_HUMAN SH3 domain binding kinase family, member 2 64 Protein kinase. ATP binding|protein serine/threonine kinase activity endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 GGACGCACTTCCTCGTAGAGC 0.662000 14 14 0 0 0.000422831 0 0 MAP2K7 5609 broad.mit.edu 37 19 7968862 7968862 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:7968862C>T ENST00000545011.1 + 1 98 c.33C>T c.(31-33)tcC>tcT p.S11S MAP2K7_ENST00000397983.3_Silent_p.S11S|MAP2K7_ENST00000397981.3_Silent_p.S11S|MAP2K7_ENST00000397979.3_Silent_p.S11S O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 11 activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) AGAAGCTGTCCCGCCTGGAAG 0.697000 10 9 0 0 6.40141e-05 0 0 CFTR 1080 broad.mit.edu 37 7 117232675 117232675 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:117232675G>A ENST00000003084.6 + 14 2586 c.2454G>A c.(2452-2454)ttG>ttA p.L818L CFTR_ENST00000454343.1_Silent_p.L757L NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 818 respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) AAACTGGCTTGGAAATAAGTG 0.403000 Cystic Fibrosis 34 33 0 0 0.000491102 0 0 PARM1 25849 broad.mit.edu 37 4 75938300 75938300 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:75938300G>A ENST00000307428.7 + 2 921 c.709G>A c.(709-711)Gag>Aag p.E237K PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA NM_015393.3 NP_056208.2 Q6UWI2 PARM1_HUMAN prostate androgen-regulated mucin-like protein 1 237 positive regulation of telomerase activity early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 CATAGACATGGAGACCACCAC 0.498000 13 40 0 0 0.000219431 0 0 NCAM2 4685 broad.mit.edu 37 21 22707868 22707868 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr21:22707868G>A ENST00000400546.1 + 7 1030 c.781G>A c.(781-783)Ggg>Agg p.G261R NCAM2_ENST00000535285.1_Missense_Mutation_p.G286R|NCAM2_ENST00000284894.7_Missense_Mutation_p.G119R NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 261 Ig-like C2-type 3. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) CATATTGAAAGGGAGCAATAC 0.388000 4 34 0 0 0.000602214 0 0 TLE4 7091 broad.mit.edu 37 9 82267551 82267551 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr9:82267551C>T ENST00000376520.4 + 7 1262 c.434C>T c.(433-435)cCc>cTc p.P145L TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000265284.6_Missense_Mutation_p.P120L|TLE4_ENST00000376544.3_Missense_Mutation_p.P145L|TLE4_ENST00000376537.4_Missense_Mutation_p.P145L|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376552.2_Missense_Mutation_p.P145L O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 CATGGTCTCCCCGTACCTCTG 0.557000 33 71 0 0 0.000953801 0 0 FSHB 2488 broad.mit.edu 37 11 30255338 30255338 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:30255338G>A ENST00000417547.1 + 3 420 c.381G>A c.(379-381)atG>atA p.M127I FSHB_ENST00000533718.1_Missense_Mutation_p.M127I|FSHB_ENST00000254122.3_Missense_Mutation_p.M127I NM_001018080.1 NP_001018090.1 P01225 FSHB_HUMAN follicle stimulating hormone, beta polypeptide 127 cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway cytoplasm|extracellular region|soluble fraction follicle-stimulating hormone activity|protein heterodimerization activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 12 Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094) TTGGTGAAATGAAAGAATAAA 0.512000 11 14 0 0 6.40141e-05 0 0 AHDC1 27245 broad.mit.edu 37 1 27874537 27874537 + Missense_Mutation SNP G G C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:27874537G>C ENST00000374011.2 - 6 5058 c.4090C>G c.(4090-4092)Cac>Gac p.H1364D AHDC1_ENST00000247087.5_Missense_Mutation_p.H1364D|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1364 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GAGTCGCAGTGGAAGCCTTGG 0.647000 21 36 0 0 0.000132079 0 0 UNC13D 201294 broad.mit.edu 37 17 73835948 73835948 + Missense_Mutation SNP C C T rs150442758 TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:73835948C>T ENST00000207549.4 - 12 1406 c.1027G>A c.(1027-1029)Gac>Aac p.D343N UNC13D_ENST00000412096.2_Missense_Mutation_p.D343N|UNC13D_ENST00000587504.1_5'UTR NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 343 Interaction with RAB27A. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) TCGGATAGGTCCTTCTGTGTG 0.667000 Familial Hemophagocytic Lymphohistiocytosis 12 75 0 0 0.00010058 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182898843 182898843 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:182898843C>T ENST00000367547.3 - 6 1357 c.1121G>A c.(1120-1122)gGa>gAa p.G374E SHCBP1L_ENST00000423786.1_Missense_Mutation_p.G255E|SHCBP1L_ENST00000488956.1_5'UTR NM_030933.2 NP_112195.2 Q9BZQ2 SHP1L_HUMAN SHC SH2-domain binding protein 1-like 446 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 TTCTCTTTTTCCTTTCCTACG 0.274000 41 60 0 0 0.000781405 0 0 OR14A16 284532 broad.mit.edu 37 1 247978756 247978756 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:247978756G>A ENST00000357627.1 - 1 275 c.276C>T c.(274-276)ttC>ttT p.F92F NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F92L(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 CACAGCCAAGGAATGAAATGG 0.438000 33 31 0 0 0.00058488 0 0 ABLIM1 3983 broad.mit.edu 37 10 116361657 116361657 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr10:116361657C>T ENST00000533213.2 - 2 429 c.128G>A c.(127-129)gGg>gAg p.G43E ABLIM1_ENST00000369252.4_Missense_Mutation_p.G43E|ABLIM1_ENST00000277895.5_Missense_Mutation_p.G103E|ABLIM1_ENST00000477638.1_5'UTR O14639 ABLM1_HUMAN actin binding LIM protein 1 103 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) GCAAGGCTCCCCACATTTATG 0.512000 8 44 0 0 0.000274275 0 0 FKBPL 63943 broad.mit.edu 37 6 32096980 32096980 + Missense_Mutation SNP G G C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:32096980G>C ENST00000375156.3 - 2 848 c.578C>G c.(577-579)aCt>aGt p.T193S NM_022110.3 NP_071393.2 Q9UIM3 FKBPL_HUMAN FK506 binding protein like 193 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity TCGGCCTTGAGTGAAGGATGC 0.567000 77 470 0 0 0.000781405 0 0 DSCAM 1826 broad.mit.edu 37 21 41725649 41725649 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr21:41725649G>A ENST00000400454.1 - 5 1154 c.677C>T c.(676-678)tCc>tTc p.S226F NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 226 Ig-like C2-type 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ATCCAGTATGGATGGGGCTGA 0.512000 6 15 0 0 3.59834e-05 0 0 ROS1 6098 broad.mit.edu 37 6 117639394 117639394 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:117639394C>T ENST00000368508.3 - 37 6160 c.5962G>A c.(5962-5964)Gac>Aac p.D1988N ROS1_ENST00000368507.3_Missense_Mutation_p.D1982N|GOPC_ENST00000467125.1_5'UTR NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1988 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TTCTCCTGGTCTGTGGAACCC 0.408000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 7 27 0 0 0.000274275 0 0 DEFB119 245932 broad.mit.edu 37 20 29977001 29977001 + Silent SNP A A G TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:29977001A>G ENST00000376315.2 - 2 93 c.94T>C c.(94-96)Ttg>Ctg p.L32L DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000339144.3_Intron NM_001271209.1|NM_153323.4 NP_001258138.1|NP_697018.1 Q8N690 DB119_HUMAN defensin, beta 119 38 defense response to bacterium extracellular region large_intestine(2)|lung(1)|prostate(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TCTTTGCACAACAACCGGCAG 0.443000 45 117 0 0 0.000781405 0 0 FILIP1 27145 broad.mit.edu 37 6 76023417 76023417 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:76023417G>A ENST00000393004.2 - 5 2352 c.2131C>T c.(2131-2133)Cgg>Tgg p.R711W FILIP1_ENST00000237172.7_Missense_Mutation_p.R711W|FILIP1_ENST00000370020.1_Missense_Mutation_p.R612W|FILIP1_ENST00000498523.1_5'UTR Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 711 p.R711W(1) breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TCTTCCAACCGAAATCTGTGT 0.413000 55 143 0 0 0.000781405 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27834783 27834783 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:27834783C>T ENST00000331442.3 - 1 576 c.525G>A c.(523-525)aaG>aaA p.K175K NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 175 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 CCTTGGCCTTCTTAGGGCTCT 0.592000 55 57 0 0 0.000781405 0 0 TLR7 51284 broad.mit.edu 37 X 12905795 12905795 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chrX:12905795G>A ENST00000380659.3 + 3 2307 c.2168G>A c.(2167-2169)aGa>aAa p.R723K NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 723 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) AACTGTTCCAGAAGCCTCAAG 0.428000 52 22 0 0 0.000781405 0 0 OR5M9 390162 broad.mit.edu 37 11 56230195 56230195 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:56230195G>A ENST00000279791.1 - 1 682 c.683C>T c.(682-684)tCt>tTt p.S228F NM_001004743.1 NP_001004743.1 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, member 9 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) GCCATCGGCAGAGCGCATGCG 0.498000 7 17 0 0 8.12818e-05 0 0 CYP11B1 1584 broad.mit.edu 37 8 143959214 143959214 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:143959214G>A ENST00000377675.3 - 4 573 c.567C>T c.(565-567)ttC>ttT p.F189F CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000292427.4_Intron P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 133 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) TGCCCCCAGGGAATGGTGGGG 0.522000 Familial Hyperaldosteronism type I 8 36 0 0 0.00010058 0 0 C1orf87 127795 broad.mit.edu 37 1 60505724 60505724 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:60505724G>A ENST00000371201.3 - 5 719 c.612C>T c.(610-612)atC>atT p.I204I C1orf87_ENST00000450089.2_Intron NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 204 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 TTGGGTCCAGGATCTTCAGCT 0.428000 28 87 0 0 0.000279167 0 0 VWC2 375567 broad.mit.edu 37 7 49842381 49842381 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:49842381G>A ENST00000340652.3 + 3 1327 c.771G>A c.(769-771)acG>acA p.T257T NM_198570.3 NP_940972.2 Q2TAL6 VWC2_HUMAN von Willebrand factor C domain containing 2 257 VWFC 2. negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 GTCCCCAGACGGAGTGTGTGG 0.572000 12 106 0 0 0.00010058 0 0 TCF3 6929 broad.mit.edu 37 19 1622363 1622363 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:1622363G>A ENST00000262965.5 - 9 945 c.601C>T c.(601-603)Ccg>Tcg p.P201S TCF3_ENST00000344749.5_Missense_Mutation_p.P201S|TCF3_ENST00000588136.1_Missense_Mutation_p.P201S|TCF3_ENST00000453954.2_Missense_Mutation_p.P117S|TCF3_ENST00000395423.3_Missense_Mutation_p.P150S NM_003200.3 NP_003191.1 P15923 TFE2_HUMAN transcription factor 3 201 B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTGGCGGACGGGTAGGCGGTG 0.716000 T """PBX1, HLF, TFPT""" pre B-ALL 6 8 0 0 0.000442599 0 0 HIVEP1 3096 broad.mit.edu 37 6 12122047 12122047 + Silent SNP T T G TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:12122047T>G ENST00000379388.2 + 4 2351 c.2019T>G c.(2017-2019)tcT>tcG p.S673S NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 673 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GTACGGATTCTGGTTACTTTT 0.502000 14 27 0 0 0.000308642 0 0 SHANK3 85358 broad.mit.edu 37 22 51123067 51123067 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr22:51123067G>A ENST00000414786.2 + 9 1245 c.1018G>A c.(1018-1020)Gac>Aac p.D340N SHANK3_ENST00000262795.3_Missense_Mutation_p.D340N|SHANK3_ENST00000445220.2_Missense_Mutation_p.D340N F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 340 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) GACCCACAAAGACTCGGATGT 0.572000 25 44 0 0 0.000279167 0 0 ZNF436 80818 broad.mit.edu 37 1 23688771 23688771 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:23688771C>T ENST00000314011.4 - 4 1240 c.1104G>A c.(1102-1104)ggG>ggA p.G368G ZNF436_ENST00000374608.3_Silent_p.G368G|ZNF436_ENST00000374609.1_Intron NM_001077195.1 NP_001070663.1 Q9C0F3 ZN436_HUMAN zinc finger protein 436 368 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) TGAAGCTTTTCCCACAAGCAT 0.463000 47 61 0 0 0.000680045 0 0 TMPRSS4 56649 broad.mit.edu 37 11 117965536 117965536 + Splice_Site SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:117965536G>A ENST00000534111.1 + 2 268 c.e2-1 TMPRSS4_ENST00000523251.1_Splice_Site|TMPRSS4_ENST00000522824.1_Silent_p.Q3Q|TMPRSS4_ENST00000522307.1_Splice_Site|TMPRSS4_ENST00000437212.3_Silent_p.Q3Q NM_001083947.1|NM_001173551.1|NM_019894.3 NP_001077416.1|NP_001167022.1|NP_063947.1 Q9NRS4 TMPS4_HUMAN transmembrane protease, serine 4 proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) TTCAATTACAGGATCCTGACA 0.512000 4 11 0 0 8.12818e-05 0 0 EYA4 2070 broad.mit.edu 37 6 133836476 133836476 + Missense_Mutation SNP A A G TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:133836476A>G ENST00000367895.5 + 17 1983 c.1519A>G c.(1519-1521)Aag>Gag p.K507E EYA4_ENST00000525849.1_Missense_Mutation_p.K484E|EYA4_ENST00000430974.2_Missense_Mutation_p.K459E|EYA4_ENST00000355167.3_Missense_Mutation_p.K507E|EYA4_ENST00000452339.2_Missense_Mutation_p.K453E|EYA4_ENST00000431403.2_Missense_Mutation_p.K507E|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000355286.6_Missense_Mutation_p.K484E|EYA4_ENST00000531901.1_Missense_Mutation_p.K513E NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 507 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) TGGCCCTGCCAAGAGGGATGC 0.433000 35 81 0 0 0.000814825 0 0 ACO1 48 broad.mit.edu 37 9 32407274 32407274 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr9:32407274C>T ENST00000379923.1 + 4 319 c.113C>T c.(112-114)tCg>tTg p.S38L ACO1_ENST00000541043.1_5'UTR|ACO1_ENST00000309951.5_Missense_Mutation_p.S38L NM_001278352.1 NP_001265281.1 P21399 ACOC_HUMAN aconitase 1, soluble 38 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) TTACCATTTTCGATCAGAGTT 0.383000 13 59 0 0 0.000308642 0 0 CCDC141 285025 broad.mit.edu 37 2 179702368 179702368 + Missense_Mutation SNP T T C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:179702368T>C ENST00000420890.2 - 23 3695 c.3578A>G c.(3577-3579)gAc>gGc p.D1193G CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.D618G NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 618 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CAGGAGCAGGTCCTGGACGCC 0.562000 39 75 0 0 0.000781405 0 0 CXCR2 3579 broad.mit.edu 37 2 219000495 219000495 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:219000495G>A ENST00000318507.2 + 3 1398 c.971G>A c.(970-972)gGa>gAa p.G324E NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 324 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 TTTCGCCATGGACTCCTCAAG 0.547000 38 86 0 0 0.000680045 0 0 ZNF479 90827 broad.mit.edu 37 7 57200000 57200000 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:57200000C>T ENST00000331162.4 - 2 302 c.32G>A c.(31-33)cGa>cAa p.R11Q NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) CACCATTTCTCGGCTTCCAGG 0.552000 36 33 0 0 0.000228196 0 0 SEMA5B 54437 broad.mit.edu 37 3 122634311 122634311 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:122634311G>A ENST00000195173.4 - 14 2267 c.1964C>T c.(1963-1965)gCc>gTc p.A655V SEMA5B_ENST00000357599.3_Missense_Mutation_p.A655V|SEMA5B_ENST00000451055.2_Missense_Mutation_p.A709V Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 655 cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GATGTGGATGGCTGGCCCCAG 0.612000 14 28 0 0 0.000566183 0 0 KDM5A 5927 broad.mit.edu 37 12 438098 438098 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:438098G>A ENST00000399788.2 - 14 2233 c.1871C>T c.(1870-1872)cCa>cTa p.P624L KDM5A_ENST00000382815.4_Missense_Mutation_p.P624L NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 624 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 TAAGCATTCTGGATCTGCTGC 0.463000 T NUP98 AML 104 45 0 0 0.000781405 0 0 SYT1 6857 broad.mit.edu 37 12 79679739 79679739 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:79679739G>A ENST00000261205.4 + 5 996 c.339G>A c.(337-339)acG>acA p.T113T SYT1_ENST00000393240.3_Silent_p.T113T|SYT1_ENST00000457153.2_Silent_p.T113T|SYT1_ENST00000552744.1_Silent_p.T113T NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 113 detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 TAGGGAAGACGATGAAAGATC 0.274000 11 19 0 0 0.000308642 0 0 MED12L 116931 broad.mit.edu 37 3 150877703 150877703 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:150877703G>A ENST00000474524.1 + 7 960 c.922G>A c.(922-924)Gat>Aat p.D308N MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Missense_Mutation_p.D308N|MED12L_ENST00000422248.2_Missense_Mutation_p.D308N NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 308 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCTGCTGAGCGATAGCCCCAA 0.577000 30 81 0 0 0.000279167 0 0 EDF1 8721 broad.mit.edu 37 9 139757824 139757824 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr9:139757824G>A ENST00000371648.4 - 3 214 c.207C>T c.(205-207)caC>caT p.H69H EDF1_ENST00000371649.1_Silent_p.H69H|EDF1_ENST00000224073.1_Silent_p.H69H NM_153200.1 NP_694880.1 O60869 EDF1_HUMAN endothelial differentiation-related factor 1 69 Interaction with NR5A2, PPARG and NR1H3.|Interaction with TBP and NR5A1. endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent cytoplasm|nucleolus|nucleus calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity lung(1) 1 all_cancers(76;0.0841)|all_epithelial(76;0.217) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CCCTGTCATGGTGCAGCTCCT 0.612000 5 23 0 0 3.59834e-05 0 0 POM121L12 285877 broad.mit.edu 37 7 53103782 53103782 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:53103782G>A ENST00000408890.4 + 1 434 c.418G>A c.(418-420)Ggg>Agg p.G140R NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 140 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GGTGACCATCGGGATCGCGCC 0.716000 8 37 0 0 0.000274275 0 0 NOSIP 51070 broad.mit.edu 37 19 50060403 50060403 + Missense_Mutation SNP A A C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:50060403A>C ENST00000391853.3 - 6 513 c.362T>G c.(361-363)aTc>aGc p.I121S NOSIP_ENST00000596358.1_Missense_Mutation_p.I121S|NOSIP_ENST00000339093.3_Missense_Mutation_p.I121S NM_015953.3 NP_057037.1 Q9Y314 NOSIP_HUMAN nitric oxide synthase interacting protein 121 negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process cytosol|nucleus protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1) 11 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133) CCGGCTCACGATAGCCGACTC 0.687000 6 24 0 0 0.000442599 0 0 IDE 3416 broad.mit.edu 37 10 94267908 94267908 + Missense_Mutation SNP A A T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr10:94267908A>T ENST00000265986.6 - 8 1171 c.1115T>A c.(1114-1116)tTt>tAt p.F372Y NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 372 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AATGATAAAAAACATAAAACC 0.353000 52 201 0 0 0.000781405 0 0 VHLL 391104 broad.mit.edu 37 1 156268786 156268786 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:156268786G>A ENST00000339922.3 - 1 642 c.195C>T c.(193-195)atC>atT p.I65I NM_001004319.2 NP_001004319.1 Q6RSH7 VHLL_HUMAN von Hippel-Lindau tumor suppressor-like 65 Beta-domain. protein ubiquitination nucleus endometrium(1)|lung(2)|ovary(1) 4 Hepatocellular(266;0.158) CAGGCAGCACGATTCGTGGGC 0.607000 11 29 0 0 0.000673444 0 0 GNB2L1 10399 broad.mit.edu 37 5 180666103 180666103 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:180666103G>A ENST00000512805.1 - 5 1008 c.600C>T c.(598-600)gtC>gtT p.V200V GNB2L1_ENST00000376817.4_Silent_p.V156V|GNB2L1_ENST00000511900.1_Silent_p.V152V|GNB2L1_ENST00000511566.1_Silent_p.V200V|GNB2L1_ENST00000504726.1_Intron NM_006098.4 NP_006089.1 P63244 GBLP_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 200 apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding lung(3)|skin(2) 5 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11) CATCTGGAGAGACAGTCACCG 0.537000 44 76 0 0 0.000781405 0 0 OR4A47 403253 broad.mit.edu 37 11 48511051 48511051 + Nonsense_Mutation SNP C C A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:48511051C>A ENST00000446524.1 + 1 783 c.707C>A c.(706-708)tCa>tAa p.S236* NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S236*(1) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 AAAGCCCTCTCAACCTGCAGT 0.433000 14 101 1.5842e-08 1.98666e-07 0.000151284 1 0 FASTKD2 22868 broad.mit.edu 37 2 207652766 207652766 + Missense_Mutation SNP G G C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:207652766G>C ENST00000236980.6 + 9 2048 c.1700G>C c.(1699-1701)cGg>cCg p.R567P FASTKD2_ENST00000403094.3_Missense_Mutation_p.R567P|FASTKD2_ENST00000402774.3_Missense_Mutation_p.R567P NM_014929.3 NP_055744.2 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 567 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2) 21 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) CAGCTGCCGCGGGAGCTGCCA 0.493000 4 53 0 0 0.000602214 0 0 UBE3B 89910 broad.mit.edu 37 12 109971326 109971326 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:109971326C>T ENST00000342494.3 + 27 3573 c.2978C>T c.(2977-2979)cCa>cTa p.P993L UBE3B_ENST00000535089.1_Missense_Mutation_p.P80L|UBE3B_ENST00000434735.2_Missense_Mutation_p.P993L NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 993 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 CTCAAGCCTCCATTCTCCATC 0.632000 5 80 0 0 0.000602214 0 0 SLC22A16 85413 broad.mit.edu 37 6 110777985 110777985 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:110777985C>T ENST00000368919.3 - 2 355 c.289G>A c.(289-291)Gag>Aag p.E97K SLC22A16_ENST00000456137.2_Missense_Mutation_p.E97K|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.E97K|SLC22A16_ENST00000330550.4_Missense_Mutation_p.E63K NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 97 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) CTTGAGAGCTCCCAGATCTCA 0.473000 17 122 0 0 0.000229342 0 0 NOL4 8715 broad.mit.edu 37 18 31523129 31523129 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:31523129G>A ENST00000261592.5 - 9 1739 c.1442C>T c.(1441-1443)cCt>cTt p.P481L NOL4_ENST00000538587.1_Missense_Mutation_p.P407L|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535384.1_Missense_Mutation_p.P196L|NOL4_ENST00000535475.1_Missense_Mutation_p.P262L|NOL4_ENST00000269185.4_Intron NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 481 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 AAGGTGGGAAGGAATAGGTCG 0.418000 18 44 0 0 0.00074312 0 0 SH3BP4 23677 broad.mit.edu 37 2 235943748 235943748 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:235943748C>T ENST00000409212.1 + 3 609 c.102C>T c.(100-102)agC>agT p.S34S SH3BP4_ENST00000392011.2_Silent_p.S34S|SH3BP4_ENST00000344528.4_Silent_p.S34S Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 34 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) CAGAGACGAGCTTTAATGACA 0.527000 19 44 0 0 0.000375601 0 0 ZNF106 64397 broad.mit.edu 37 15 42743614 42743614 + Missense_Mutation SNP A A G rs139622071 TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr15:42743614A>G ENST00000263805.4 - 2 1113 c.787T>C c.(787-789)Tgg>Cgg p.W263R ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 TTCTTGTTCCATAGCATAGTC 0.378000 15 45 0 0 0.000308642 0 0 CGN 57530 broad.mit.edu 37 1 151491671 151491671 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:151491671G>A ENST00000271636.7 + 2 809 c.676G>A c.(676-678)Gaa>Aaa p.E226K NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 220 Head.|Interacts with ZO-2. myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) CACCTTTGAGGAACGGGAGCG 0.627000 12 95 0 0 0.000151284 0 0 PKD2L2 27039 broad.mit.edu 37 5 137228269 137228269 + Silent SNP T T C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:137228269T>C ENST00000508638.1 + 3 289 c.234T>C c.(232-234)ttT>ttC p.F78F PKD2L2_ENST00000508883.1_Silent_p.F78F|PKD2L2_ENST00000290431.5_Silent_p.F78F|PKD2L2_ENST00000502810.1_Silent_p.F78F|PKD2L2_ENST00000350250.4_Silent_p.F44F NM_001258449.1 NP_001245378.1 Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 78 integral to membrane calcium ion binding|ion channel activity breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GAACCAACTTTAAGTCCATTC 0.388000 33 56 0 0 0.000191422 0 0 PSMF1 9491 broad.mit.edu 37 20 1115875 1115875 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:1115875C>T ENST00000335877.6 + 4 653 c.477C>T c.(475-477)ccC>ccT p.P159P PSMF1_ENST00000246015.4_Silent_p.P159P|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000333082.3_Silent_p.P159P|PSMF1_ENST00000381898.4_Silent_p.P71P NM_006814.3 NP_006805.2 Q92530 PSMF1_HUMAN proteasome (prosome, macropain) inhibitor subunit 1 (PI31) 159 Pro-rich. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome core complex endopeptidase inhibitor activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(8) 13 GGGAGTTCCCCCCTGCTACCG 0.582000 18 17 0 0 0.000958276 0 0 RP1 6101 broad.mit.edu 37 8 55540336 55540336 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:55540336C>T ENST00000220676.1 + 4 4042 c.3894C>T c.(3892-3894)ttC>ttT p.F1298F NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1298 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AGGCTTGTTTCCTAGGAGAGG 0.413000 57 81 0 0 0.000781405 0 0 PI4KB 5298 broad.mit.edu 37 1 151278757 151278757 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:151278757C>T ENST00000368875.2 - 6 1881 c.1301G>A c.(1300-1302)cGa>cAa p.R434Q PI4KB_ENST00000368874.4_Missense_Mutation_p.R407Q|PI4KB_ENST00000368873.1_Missense_Mutation_p.R422Q|PI4KB_ENST00000368872.1_Missense_Mutation_p.R407Q|PI4KB_ENST00000271657.5_Missense_Mutation_p.R434Q|PI4KB_ENST00000529142.1_Missense_Mutation_p.R90Q NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 422 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ACTCCGAATTCGGTTCTCGGG 0.527000 21 35 0 0 0.000586117 0 0 FAT3 120114 broad.mit.edu 37 11 92531411 92531411 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:92531411C>T ENST00000298047.6 + 9 5249 c.5232C>T c.(5230-5232)acC>acT p.T1744T FAT3_ENST00000409404.2_Silent_p.T1744T|FAT3_ENST00000525166.1_Silent_p.T1594T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1744 Cadherin 15. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTCAGGCCACCAATATGGCAG 0.423000 TCGA Ovarian(4;0.039) 104 391 0 0 0.000781405 0 0 DYSF 8291 broad.mit.edu 37 2 71816787 71816787 + Missense_Mutation SNP A A G TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:71816787A>G ENST00000258104.3 + 31 3690 c.3413A>G c.(3412-3414)aAc>aGc p.N1138S DYSF_ENST00000429174.2_Missense_Mutation_p.N1138S|DYSF_ENST00000410020.3_Missense_Mutation_p.N1156S|DYSF_ENST00000409762.1_Missense_Mutation_p.N1155S|DYSF_ENST00000409744.1_Missense_Mutation_p.N1125S|DYSF_ENST00000409651.1_Missense_Mutation_p.N1170S|DYSF_ENST00000409366.1_Missense_Mutation_p.N1139S|DYSF_ENST00000413539.2_Missense_Mutation_p.N1169S|DYSF_ENST00000409582.3_Missense_Mutation_p.N1155S|DYSF_ENST00000410041.1_Missense_Mutation_p.N1156S|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.N1139S NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1138 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TTCGGTGTGAACAGACCCACG 0.517000 8 122 0 0 6.40141e-05 0 0 PLCH1 23007 broad.mit.edu 37 3 155200266 155200266 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:155200266C>T ENST00000460012.1 - 23 3816 c.3459G>A c.(3457-3459)gaG>gaA p.E1153E PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.E1153E|PLCH1_ENST00000334686.6_Silent_p.E1153E|PLCH1_ENST00000340059.7_Silent_p.E1191E|PLCH1_ENST00000494598.1_Intron Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1191 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AACTGCCCGGCTCATTCTCAT 0.433000 17 37 0 0 0.000566183 0 0 MGAM 8972 broad.mit.edu 37 7 141803141 141803141 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:141803141G>A ENST00000475668.2 + 70 8140 c.8086G>A c.(8086-8088)Gaa>Aaa p.E2696K MGAM_ENST00000549489.2_Missense_Mutation_p.E1800K O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1800 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GGGCTACATTGAAATCTGGGG 0.428000 5 32 0 0 0.000602214 0 0 AHR 196 broad.mit.edu 37 7 17373557 17373557 + Silent SNP T T C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:17373557T>C ENST00000242057.4 + 7 1370 c.727T>C c.(727-729)Tta>Cta p.L243L NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 243 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) CCAAGGGAAGTTAAAGTATCT 0.348000 49 43 0 0 0.000781405 0 0 SNX12 29934 broad.mit.edu 37 X 70281772 70281772 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chrX:70281772G>A ENST00000374274.3 - 3 423 c.307C>T c.(307-309)Cct>Tct p.P103S SNX12_ENST00000465030.1_Intron|SNX12_ENST00000276105.3_Missense_Mutation_p.P99S NM_001256185.1|NM_001256188.1|NM_013346.3 NP_001243114.1|NP_001243117.1|NP_037478.2 Q9UMY4 SNX12_HUMAN sorting nexin 12 103 PX. cell communication|protein transport membrane phosphatidylinositol binding|protein binding endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 8 Renal(35;0.156) CCTCGGAAAGGGAGCTGCCGC 0.522000 22 12 0 0 0.00047179 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37419276 37419276 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr10:37419276C>T ENST00000374660.1 + 3 411 c.312C>T c.(310-312)tcC>tcT p.S104S ANKRD30A_ENST00000361713.1_Silent_p.S104S|ANKRD30A_ENST00000602533.1_Silent_p.S104S Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 160 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AACTGCTGTCCCATGGTGCAG 0.378000 6 21 0 0 0.000157383 0 0 TM9SF4 9777 broad.mit.edu 37 20 30745665 30745665 + Missense_Mutation SNP G G T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:30745665G>T ENST00000217315.5 + 14 1687 c.1347G>T c.(1345-1347)ttG>ttT p.L449F TM9SF4_ENST00000398022.2_Missense_Mutation_p.L466F Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 466 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TCGTCTACTTGGGCTACTACT 0.597000 7 125 3.86212e-05 0.000470723 0.000673444 1 0 CUX2 23316 broad.mit.edu 37 12 111652026 111652026 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:111652026C>T ENST00000261726.6 + 2 240 c.86C>T c.(85-87)tCt>tTt p.S29F NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 29 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 TCCGTCGCTTCTGAGCTGTCT 0.353000 6 69 0 0 3.59834e-05 0 0 SRGAP3 9901 broad.mit.edu 37 3 9055492 9055492 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:9055492G>A ENST00000383836.3 - 16 2275 c.1848C>T c.(1846-1848)atC>atT p.I616I SRGAP3_ENST00000360413.3_Silent_p.I592I NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 616 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GGATTTGTTGGATCTGGTGCA 0.527000 T RAF1 pilocytic astrocytoma 20 35 0 0 0.00047179 0 0 MUC16 94025 broad.mit.edu 37 19 9085057 9085057 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:9085057G>A ENST00000397910.4 - 1 6961 c.6758C>T c.(6757-6759)tCc>tTc p.S2253F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2253 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S2253F(2) 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 AGGGGAGGGGGAAAAGGAGAC 0.458000 6 37 0 0 8.12818e-05 0 0 HADHB 3032 broad.mit.edu 37 2 26501519 26501519 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:26501519C>T ENST00000317799.5 + 8 584 c.480C>T c.(478-480)atC>atT p.I160I HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000537713.1_Silent_p.I145I|HADHB_ENST00000545822.1_Silent_p.I138I|HADHB_ENST00000405867.3_Intron NM_000183.2 NP_000174.1 P55084 ECHB_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit 160 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGATGTGATCGTGGCAGGTG 0.423000 34 102 0 0 0.000437636 0 0 DSC3 1825 broad.mit.edu 37 18 28576937 28576937 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:28576937C>T ENST00000434452.1 - 15 2467 c.2313G>A c.(2311-2313)atG>atA p.M771I DSC3_ENST00000360428.4_Missense_Mutation_p.M771I NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 771 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) CTCCATTTTTCATTCCTGATC 0.443000 6 24 0 0 3.59834e-05 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 155062 155062 + Missense_Mutation SNP G G C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:155062G>C ENST00000283426.6 + 6 1047 c.997G>C c.(997-999)Ggc>Cgc p.G333R NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 333 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) AGACCTCGACGGCTCCTTTCC 0.562000 33 27 0 0 0.000409698 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947487 57947487 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:57947487G>A ENST00000335397.3 + 3 887 c.571G>A c.(571-573)Gag>Aag p.E191K NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) GACCTGTGGGGAGAGCTACAC 0.473000 25 35 0 0 0.00047179 0 0 FANCD2 2177 broad.mit.edu 37 3 10140621 10140621 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:10140621C>T ENST00000287647.3 + 43 4496 c.4403C>T c.(4402-4404)cCa>cTa p.P1468L FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_Intron|FANCD2_ENST00000383807.1_Intron|FANCD2_ENST00000419585.1_Intron NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 1468 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TGCCCATTTCCATTCCCTCCA 0.403000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 22 60 0 0 0.00047179 0 0 C7 730 broad.mit.edu 37 5 40937743 40937743 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:40937743G>A ENST00000313164.9 + 6 877 c.518G>A c.(517-519)gGa>gAa p.G173E NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 173 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) AGTGGGGATGGAAAAGATTTC 0.393000 5 13 0 0 0.000602214 0 0 GIF 2694 broad.mit.edu 37 11 59611398 59611398 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:59611398C>T ENST00000541311.1 - 2 369 c.135G>A c.(133-135)aaG>aaA p.K45K GIF_ENST00000257248.2_Silent_p.K70K P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 70 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 GCTTCTGGGCCTTCAAGTTGT 0.522000 18 29 0 0 0.00074312 0 0 SNX31 169166 broad.mit.edu 37 8 101620768 101620768 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:101620768G>A ENST00000311812.2 - 8 785 c.635C>T c.(634-636)tCc>tTc p.S212F SNX31_ENST00000428383.2_Missense_Mutation_p.S113F NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 212 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) CATCAGCACGGAGTCGAGGGA 0.527000 25 25 0 0 0.000878237 0 0 INTS1 26173 broad.mit.edu 37 7 1538686 1538686 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:1538686G>A ENST00000389470.4 - 9 1445 c.1446C>T c.(1444-1446)ctC>ctT p.L482L INTS1_ENST00000404767.3_Silent_p.L354L Q8N201 INT1_HUMAN integrator complex subunit 1 354 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) AGGTGGAGGTGAGGAGCCGCA 0.677000 4 7 0 0 0.000602214 0 0 PDE6B 5158 broad.mit.edu 37 4 619541 619541 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:619541G>A ENST00000255622.6 + 1 169 c.126G>A c.(124-126)ccG>ccA p.P42P PDE6B_ENST00000496514.1_Silent_p.P42P NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 42 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 GGTGCCCGCCGGACTGCGACA 0.642000 31 43 0 0 0.000814825 0 0 OGFR 11054 broad.mit.edu 37 20 61444779 61444779 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:61444779C>T ENST00000370461.1 + 5 3933 c.1656C>T c.(1654-1656)ccC>ccT p.P552P OGFR_ENST00000370468.3_Intron|OGFR_ENST00000290291.6_Silent_p.P604P Q9NZT2 OGFR_HUMAN opioid growth factor receptor 604 7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK]. regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17 Breast(26;3.65e-08) CCCCAGGCCCCCGCCCGGCAG 0.746000 5 6 0 0 3.59834e-05 0 0 CCBE1 147372 broad.mit.edu 37 18 57103350 57103350 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:57103350G>A ENST00000439986.4 - 11 1048 c.1011C>T c.(1009-1011)ttC>ttT p.F337F CCBE1_ENST00000398179.2_Silent_p.F66F NM_133459.3 NP_597716.1 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 337 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) TAAGTAGCAGGAAGTCGAAAG 0.537000 26 42 0 0 0.000227799 0 0 FAM179B 23116 broad.mit.edu 37 14 45513962 45513962 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr14:45513962C>T ENST00000361462.2 + 13 4226 c.4043C>T c.(4042-4044)gCt>gTt p.A1348V FAM179B_ENST00000361577.3_Missense_Mutation_p.A1348V|FAM179B_ENST00000382233.2_3'UTR Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 1348 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 TTGCACAAGGCTGGTGAATCA 0.368000 18 46 0 0 0.00074312 0 0 ASH1L 55870 broad.mit.edu 37 1 155448249 155448249 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:155448249G>A ENST00000368346.3 - 3 5051 c.4412C>T c.(4411-4413)cCt>cTt p.P1471L ASH1L_ENST00000392403.3_Missense_Mutation_p.P1471L Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1471 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GGCCATCTCAGGAGGAACACT 0.483000 16 78 0 0 0.000958276 0 0 AMER1 139285 broad.mit.edu 37 X 63411447 63411447 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chrX:63411447G>A ENST00000330258.3 - 2 1992 c.1720C>T c.(1720-1722)Cgg>Tgg p.R574W AMER1_ENST00000374869.3_Missense_Mutation_p.R574W|AMER1_ENST00000403336.1_Missense_Mutation_p.R574W NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) TGCTCCCGCCGAAGCTCCCAA 0.592000 30 26 0 0 0.00058488 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14848843 14848843 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:14848843C>T ENST00000358984.4 + 34 3133 c.2953C>T c.(2953-2955)Caa>Taa p.Q985* NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1070 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 TTGTGTACTACAAAAGGAACT 0.358000 6 19 0 0 0.000274275 0 0 ST3GAL6 10402 broad.mit.edu 37 3 98487368 98487368 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:98487368C>T ENST00000394162.1 + 3 551 c.84C>T c.(82-84)gtC>gtT p.V28V ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000483910.1_Silent_p.V28V|ST3GAL6_ENST00000265261.6_5'UTR|ST3GAL6_ENST00000468553.1_Silent_p.V28V NM_006100.2 NP_006091.1 Q9Y274 SIA10_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 6 28 amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1) 19 GAACGAATGTCTATTGGTAAG 0.368000 28 89 0 0 0.000184323 0 0 TACC2 10579 broad.mit.edu 37 10 123843922 123843922 + Missense_Mutation SNP C C T rs113893072 TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr10:123843922C>T ENST00000369005.1 + 4 2247 c.1907C>T c.(1906-1908)cCc>cTc p.P636L TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.P636L|TACC2_ENST00000334433.3_Missense_Mutation_p.P636L|TACC2_ENST00000515273.1_Missense_Mutation_p.P636L|TACC2_ENST00000515603.1_Missense_Mutation_p.P636L NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 636 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GCACAGCCACCCAGAAAGGGG 0.592000 8 23 0 0 0.000157383 0 0 BRINP3 339479 broad.mit.edu 37 1 190195314 190195314 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:190195314G>A ENST00000367462.3 - 6 1090 c.859C>T c.(859-861)Cca>Tca p.P287S FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.P185S NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 287 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TTGCATTCTGGAAATTTGGGA 0.438000 34 35 0 0 0.000814825 0 0 NOSIP 51070 broad.mit.edu 37 19 50060402 50060402 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:50060402G>A ENST00000391853.3 - 6 514 c.363C>T c.(361-363)atC>atT p.I121I NOSIP_ENST00000596358.1_Silent_p.I121I|NOSIP_ENST00000339093.3_Silent_p.I121I NM_015953.3 NP_057037.1 Q9Y314 NOSIP_HUMAN nitric oxide synthase interacting protein 121 negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process cytosol|nucleus protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1) 11 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133) GCCGGCTCACGATAGCCGACT 0.692000 6 24 0 0 0.000442599 0 0 RNF40 9810 broad.mit.edu 37 16 30783228 30783228 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr16:30783228C>T ENST00000324685.6 + 18 3096 c.2661C>T c.(2659-2661)atC>atT p.I887I RNF40_ENST00000567365.1_3'UTR|RNF40_ENST00000563683.1_Silent_p.I847I|RNF40_ENST00000402121.3_Silent_p.I579I|RNF40_ENST00000357890.5_Silent_p.I787I NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586.1 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 887 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) TGCGGGAGATCCAGCCCTGCC 0.652000 16 28 0 0 0.000308642 0 0 MTM1 4534 broad.mit.edu 37 X 149767074 149767074 + Missense_Mutation SNP T T C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chrX:149767074T>C ENST00000370396.2 + 4 209 c.155T>C c.(154-156)aTa>aCa p.I52T MTM1_ENST00000543350.1_Intron|MTM1_ENST00000542741.1_Intron|MTM1_ENST00000413012.2_Missense_Mutation_p.I52T|MTM1_ENST00000306167.7_3'UTR NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 52 GRAM. endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) GTTATTTACATATGTCCTTTC 0.284000 31 18 0 0 0.000814825 0 0 HIC2 23119 broad.mit.edu 37 22 21800594 21800594 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr22:21800594C>T ENST00000443632.2 + 2 1782 c.1410C>T c.(1408-1410)ttC>ttT p.F470F HIC2_ENST00000407464.2_Silent_p.F470F|HIC2_ENST00000407598.2_Silent_p.F470F Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 470 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) AAGAGCTGTTCATCAAGGAAG 0.637000 12 37 0 0 0.000219431 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369321 20369321 + RNA SNP T T G TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:20369321T>G ENST00000593655.1 - 0 199 ACTACACATTTGGACCAGAGA 0.378000 54 73 0 0 0.000781405 0 0 SERPINB11 89778 broad.mit.edu 37 18 61383349 61383349 + RNA SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:61383349G>A ENST00000544088.1 + 0 500 SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) AAGAAACGAGGAAAACGATTA 0.358000 11 21 0 0 0.00010058 0 0 CELSR2 1952 broad.mit.edu 37 1 109806907 109806907 + Missense_Mutation SNP C C G TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:109806907C>G ENST00000271332.3 + 10 5270 c.5209C>G c.(5209-5211)Ctg>Gtg p.L1737V NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1737 Laminin G-like 2. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GCTGCATGGTCTGCACCTGAG 0.667000 OREG0013632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 177 208 0 0 0.000781405 0 0 NRXN1 9378 broad.mit.edu 37 2 50170887 50170887 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:50170887C>T ENST00000404971.1 - 23 5630 c.4291G>A c.(4291-4293)Gat>Aat p.D1431N NRXN1_ENST00000401710.1_Missense_Mutation_p.D379N|NRXN1_ENST00000405472.3_Missense_Mutation_p.D1383N|NRXN1_ENST00000342183.5_Missense_Mutation_p.D326N|NRXN1_ENST00000402717.3_Missense_Mutation_p.D1383N|NRXN1_ENST00000401669.2_Missense_Mutation_p.D1391N|NRXN1_ENST00000406859.3_Missense_Mutation_p.D1361N|NRXN1_ENST00000406316.2_Missense_Mutation_p.D1361N NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1361 adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TCCTCATCATCGCTGGGACAC 0.438000 14 21 0 0 0.000308642 0 0 ADGRG6 57211 broad.mit.edu 37 6 142721714 142721714 + Missense_Mutation SNP T T C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:142721714T>C ENST00000230173.6 + 11 2136 c.1660T>C c.(1660-1662)Ttt>Ctt p.F554L GPR126_ENST00000367609.3_Missense_Mutation_p.F554L|GPR126_ENST00000367608.2_Missense_Mutation_p.F526L|GPR126_ENST00000296932.8_Missense_Mutation_p.F526L NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 554 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) CAAGCCTGGCTTTTCTGCTTC 0.458000 6 20 0 0 8.12818e-05 0 0 MYT1L 23040 broad.mit.edu 37 2 1906872 1906872 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:1906872G>A ENST00000399161.2 - 14 2759 c.2012C>T c.(2011-2013)tCc>tTc p.S671F MYT1L_ENST00000428368.2_Missense_Mutation_p.S669F NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 671 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TCCTTTGGGGGATATATCCCT 0.428000 50 101 0 0 0.000781405 0 0 FMNL1 752 broad.mit.edu 37 17 43309832 43309832 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:43309832G>A ENST00000331495.3 + 3 648 c.312G>A c.(310-312)tgG>tgA p.W104* FMNL1_ENST00000328118.3_Nonsense_Mutation_p.W104*|FMNL1_ENST00000592006.1_3'UTR NM_005892.3 NP_005883.2 O95466 FMNL_HUMAN formin-like 1 104 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 CAGCTGATTGGATGTCCAACC 0.527000 9 23 0 0 0.000673444 0 0 SH3BGR 6450 broad.mit.edu 37 21 40834351 40834351 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr21:40834351C>T ENST00000333634.4 + 2 363 c.285C>T c.(283-285)atC>atT p.I95I SH3BGR_ENST00000458295.1_5'UTR|SH3BGR_ENST00000380631.1_5'UTR|SH3BGR_ENST00000380637.3_5'UTR|SH3BGR_ENST00000380634.1_5'UTR NM_007341.2 NP_031367.1 P55822 SH3BG_HUMAN SH3 domain binding glutamic acid-rich protein 95 protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) CGAATAAAATCGACTTTAAGG 0.368000 16 63 0 0 0.000132079 0 0 PDS5B 23047 broad.mit.edu 37 13 33333804 33333804 + Missense_Mutation SNP G G C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr13:33333804G>C ENST00000315596.10 + 29 3534 c.3348G>C c.(3346-3348)atG>atC p.M1116I NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 1116 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) CTCCTGAAATGAAATCATTTT 0.294000 12 44 0 0 0.000308642 0 0 OR8B8 26493 broad.mit.edu 37 11 124310904 124310904 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:124310904G>A ENST00000328064.2 - 1 150 c.78C>T c.(76-78)ccC>ccT p.P26P NM_012378.1 NP_036510.1 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, member 8 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 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;0.0277) GGAAGAAGAGGGGGATCTGGA 0.512000 7 40 0 0 0.000274275 0 0 OR5K4 403278 broad.mit.edu 37 3 98072744 98072744 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:98072744G>A ENST00000354924.2 + 1 47 c.47G>A c.(46-48)gGa>gAa p.G16E RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 ATCCTCATAGGATTTACAAAT 0.418000 15 49 0 0 0.000422831 0 0 PGC 5225 broad.mit.edu 37 6 41705561 41705561 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:41705561G>A ENST00000373025.3 - 8 983 c.921C>T c.(919-921)ctC>ctT p.L307L NM_002630.3 NP_002621.1 P20142 PEPC_HUMAN progastricsin (pepsinogen C) 307 digestion|proteolysis extracellular space aspartic-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1) 16 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) TACAGTTCACGAGAAACTGCA 0.532000 5 29 0 0 3.59834e-05 0 0 SMCHD1 23347 broad.mit.edu 37 18 2688411 2688411 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:2688411C>T ENST00000320876.6 + 6 996 c.658C>T c.(658-660)Cgt>Tgt p.R220C SMCHD1_ENST00000261598.8_Missense_Mutation_p.R220C NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 220 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 AGGATATGTTCGTCCAGTACC 0.373000 21 74 0 0 0.000375601 0 0 TP53BP1 7158 broad.mit.edu 37 15 43783950 43783950 + Splice_Site SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr15:43783950G>A ENST00000263801.3 - 4 525 c.271_splice c.e4-1 p.D91_splice TP53BP1_ENST00000382039.3_Splice_Site_p.D96_splice|TP53BP1_ENST00000382044.4_Splice_Site_p.D96_splice|TP53BP1_ENST00000450115.2_Splice_Site_p.D96_splice NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 91 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) AATCCACAGGGTCTGAAAAAA 0.383000 Other conserved DNA damage response genes 50 74 0 0 0.000781405 0 0 LYST 1130 broad.mit.edu 37 1 235973516 235973516 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:235973516G>A ENST00000389794.3 - 5 776 c.602C>T c.(601-603)cCc>cTc p.P201L LYST_ENST00000389793.2_Missense_Mutation_p.P201L|LYST_ENST00000536965.1_Missense_Mutation_p.P201L Q99698 LYST_HUMAN lysosomal trafficking regulator 201 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TTTAGCTTTGGGGTGGTCTTG 0.423000 7 142 0 0 0.000157383 0 0 TBX15 6913 broad.mit.edu 37 1 119427402 119427402 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:119427402C>T ENST00000369429.3 - 8 1771 c.1762G>A c.(1762-1764)Ggg>Agg p.G588R TBX15_ENST00000207157.3_Missense_Mutation_p.G482R Q96SF7 TBX15_HUMAN T-box 15 588 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) GGAACTGCCCCATACTGCCGG 0.562000 40 56 0 0 0.000781405 0 0 VPS13D 55187 broad.mit.edu 37 1 12359295 12359295 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:12359295C>T ENST00000358136.3 + 25 6200 c.6070C>T c.(6070-6072)Ctg>Ttg p.L2024L VPS13D_ENST00000356315.4_Silent_p.L2024L NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2024 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ACGGGTTCTCCTGGATATTGA 0.418000 42 45 0 0 0.000781405 0 0 PRB2 653247 broad.mit.edu 37 12 11546316 11546316 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:11546316G>A ENST00000389362.4 - 3 731 c.696C>T c.(694-696)tcC>tcT p.S232S PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) GGGCACTTTGGGACTTGTTGT 0.602000 78 423 0 0 0.000781405 0 0 KRT20 54474 broad.mit.edu 37 17 39041305 39041305 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:39041305G>A ENST00000167588.3 - 1 174 c.133C>T c.(133-135)Cgc>Tgc p.R45C NM_019010.2 NP_061883.1 P35900 K1C20_HUMAN keratin 20 45 Head. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) TTGGAGATGCGGATGCCCCGG 0.597000 14 63 0 0 0.000422831 0 0 SLC6A20 54716 broad.mit.edu 37 3 45814059 45814059 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:45814059G>A ENST00000358525.4 - 5 746 c.631C>T c.(631-633)Ctc>Ttc p.L211F SLC6A20_ENST00000353278.4_Intron|SLC6A20_ENST00000456124.2_Missense_Mutation_p.L211F NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 211 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) CCCCTGATGAGGTAGATGATG 0.622000 7 22 0 0 0.000442599 0 0 N4BP2 55728 broad.mit.edu 37 4 40123006 40123006 + Missense_Mutation SNP T T C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:40123006T>C ENST00000261435.6 + 9 3691 c.3275T>C c.(3274-3276)cTt>cCt p.L1092P NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 1092 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 TCTGAAAATCTTAACATTCTT 0.348000 71 42 0 0 0.000781405 0 0 KCTD8 386617 broad.mit.edu 37 4 44177176 44177176 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:44177176G>A ENST00000360029.3 - 2 1336 c.1053C>T c.(1051-1053)tcC>tcT p.S351S NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 351 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 GCTCATTACAGGAAGTCCCAC 0.468000 HNSCC(17;0.042) 23 95 0 0 0.00047179 0 0 FAM179B 23116 broad.mit.edu 37 14 45433494 45433494 + Missense_Mutation SNP T T A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr14:45433494T>A ENST00000361462.2 + 1 2053 c.1870T>A c.(1870-1872)Tgt>Agt p.C624S FAM179B_ENST00000361577.3_Missense_Mutation_p.C624S|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Missense_Mutation_p.C624S Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 624 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 GAGTGCACACTGTCACTGTGG 0.483000 13 35 0 0 0.00010058 0 0 DIP2A 23181 broad.mit.edu 37 21 47971611 47971611 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr21:47971611C>T ENST00000318711.7 + 24 3090 c.2907C>T c.(2905-2907)tcC>tcT p.S969S DIP2A_ENST00000427143.2_Silent_p.S904S|DIP2A_ENST00000417564.2_Silent_p.S968S|DIP2A_ENST00000400274.1_Silent_p.S964S NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 968 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) CTCAGGCTTCCGGGAGAGAGC 0.622000 8 23 0 0 0.000673444 0 0 EYA1 2138 broad.mit.edu 37 8 72184075 72184075 + Missense_Mutation SNP A A C rs146687496 TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:72184075A>C ENST00000340726.3 - 10 1523 c.884T>G c.(883-885)tTg>tGg p.L295W EYA1_ENST00000419131.1_Missense_Mutation_p.L290W|EYA1_ENST00000388743.2_Missense_Mutation_p.L294W|EYA1_ENST00000388742.4_Missense_Mutation_p.L295W|EYA1_ENST00000388740.3_Missense_Mutation_p.L262W|EYA1_ENST00000388741.2_Missense_Mutation_p.L261W|EYA1_ENST00000303824.7_Missense_Mutation_p.L289W NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 295 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) ACCTCGACGCAATCGATCAGA 0.458000 62 141 0 0 0.000781405 0 0 STMN2 11075 broad.mit.edu 37 8 80553696 80553696 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:80553696G>A ENST00000220876.7 + 3 581 c.199G>A c.(199-201)Gcc>Acc p.A67T STMN2_ENST00000518111.1_Missense_Mutation_p.A67T|STMN2_ENST00000518491.1_Missense_Mutation_p.A56T NM_001199214.1|NM_007029.3 NP_001186143.1|NP_008960.2 Q93045 STMN2_HUMAN stathmin-like 2 67 Regulatory/phosphorylation domain (Potential). intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 all_lung(9;8.34e-05) Epithelial(68;0.0229)|all cancers(69;0.0874) TATCTCAGAAGCCCCACGAAC 0.453000 21 43 0 0 0.000229342 0 0 DAB1 1600 broad.mit.edu 37 1 57491655 57491655 + Splice_Site SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:57491655G>A ENST00000371236.2 - 10 1048 c.786_splice c.e10+1 p.P262_splice DAB1_ENST00000420954.2_Splice_Site_p.P260_splice|DAB1_ENST00000371231.1_Splice_Site_p.P295_splice|DAB1_ENST00000439789.2_Splice_Site_p.P176_splice|DAB1_ENST00000414851.2_Splice_Site_p.P244_splice|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Splice_Site_p.P262_splice O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 295 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 CATACTTACGGGGGGAGAGGT 0.458000 29 121 0 0 0.000692331 0 0 EEF2 1938 broad.mit.edu 37 19 3978042 3978042 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:3978042G>A ENST00000309311.6 - 12 1930 c.1842C>T c.(1840-1842)gcC>gcT p.A614A NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 614 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) CGATGTCCTCGGCCAGGCCGT 0.647000 4 10 0 0 0.00024832 0 0 ANK3 288 broad.mit.edu 37 10 61802491 61802491 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr10:61802491C>T ENST00000280772.1 - 43 13283 c.13092G>A c.(13090-13092)acG>acA p.T4364T ANK3_ENST00000373827.2_Silent_p.T1848T|ANK3_ENST00000503366.1_Silent_p.T1855T|ANK3_ENST00000355288.2_Silent_p.T988T NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 4364 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 TTTCTTTCTTCGTTTTCACCT 0.398000 29 67 0 0 0.000227799 0 0 NOMO1 23420 broad.mit.edu 37 16 14968902 14968902 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr16:14968902C>T ENST00000287667.7 + 19 2235 c.2064C>T c.(2062-2064)atC>atT p.I688I NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 688 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 GGTCTTCCATCGACAGTGAAC 0.562000 29 80 0 0 0.000191422 0 0 SNX33 257364 broad.mit.edu 37 15 75941869 75941869 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr15:75941869C>T ENST00000308527.5 + 1 1623 c.426C>T c.(424-426)ccC>ccT p.P142P NM_153271.1 NP_695003.1 Q8WV41 SNX33_HUMAN sorting nexin 33 142 cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 GGCACCCTCCCCTCAACCTCT 0.647000 11 19 0 0 6.40141e-05 0 0 SNHG14 104472715 broad.mit.edu 37 15 25419962 25419962 + RNA SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr15:25419962C>T ENST00000549301.1 + 0 697 SNHG14_ENST00000441592.2_RNA ttcagcaggtccctccgtttg 0.488000 4 14 0 0 0.00024832 0 0 NRG3 10718 broad.mit.edu 37 10 84118519 84118519 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr10:84118519G>A ENST00000372142.2 + 3 459 c.185G>A c.(184-186)cGa>cAa p.R62Q NRG3_ENST00000556918.1_Missense_Mutation_p.R113Q|NRG3_ENST00000404547.1_Missense_Mutation_p.R283Q|NRG3_ENST00000404576.2_Missense_Mutation_p.R87Q|NRG3_ENST00000372141.2_Missense_Mutation_p.R283Q NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 283 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) TCCACAGAGCGATCCGAGCAC 0.517000 18 34 0 0 0.000958276 0 0 ZFHX4 79776 broad.mit.edu 37 8 77619807 77619807 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:77619807C>T ENST00000521891.2 + 3 3065 c.2617C>T c.(2617-2619)Cgg>Tgg p.R873W ZFHX4_ENST00000050961.6_Intron|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Intron|ZFHX4_ENST00000518282.1_Intron NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 863 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCCTGAAATCCGGCTTGCCAG 0.433000 HNSCC(33;0.089) 4 21 0 0 0.00024832 0 0 GPR158 57512 broad.mit.edu 37 10 25887683 25887683 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr10:25887683C>T ENST00000376351.3 + 11 3487 c.3128C>T c.(3127-3129)tCc>tTc p.S1043F GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1043 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CCCACTTTTTCCTTAAAGGAG 0.453000 9 48 0 0 0.000274275 0 0 TNRC18 84629 broad.mit.edu 37 7 5348976 5348976 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:5348976G>A ENST00000399537.4 - 28 8760 c.8412C>T c.(8410-8412)gcC>gcT p.A2804A TNRC18_ENST00000430969.1_Silent_p.A2804A O15417 TNC18_HUMAN trinucleotide repeat containing 18 2804 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) AGAGCTTGCGGGCCTTGCCCT 0.672000 8 19 0 0 0.000274275 0 0 HSPB3 8988 broad.mit.edu 37 5 53751781 53751781 + Silent SNP T T A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:53751781T>A ENST00000302005.1 + 1 337 c.162T>A c.(160-162)ccT>ccA p.P54P NM_006308.2 NP_006299.1 Q12988 HSPB3_HUMAN heat shock 27kDa protein 3 54 cell death|response to heat|response to unfolded protein cytoplasm|nucleus breast(1)|large_intestine(4)|prostate(3) 8 Lung NSC(810;0.00104) CGCAGTCTCCTCCAGTGGACT 0.562000 75 25 0 0 0.000781405 0 0 CNTN6 27255 broad.mit.edu 37 3 1424655 1424655 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:1424655G>A ENST00000446702.2 + 18 2823 c.2196G>A c.(2194-2196)gaG>gaA p.E732E CNTN6_ENST00000539053.1_Silent_p.E660E|CNTN6_ENST00000350110.2_Silent_p.E732E Q9UQ52 CNTN6_HUMAN contactin 6 732 Fibronectin type-III 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AGAATGGGGAGGGATTTGGAT 0.398000 8 52 0 0 0.000442599 0 0 KRT5 3852 broad.mit.edu 37 12 52913579 52913579 + Missense_Mutation SNP C C T rs58619430 TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:52913579C>T ENST00000252242.4 - 1 892 c.502G>A c.(502-504)Gag>Aag p.E168K NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 168 Coil 1A.|Rod. E -> K (in DM-EBS; dbSNP:rs58619430). epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) TGCTCGCGCTCCTCGGTCCTC 0.507000 52 80 0 0 0.000781405 0 0 IKBKAP 8518 broad.mit.edu 37 9 111641823 111641823 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr9:111641823G>A ENST00000374647.5 - 33 3782 c.3475C>T c.(3475-3477)Cac>Tac p.H1159Y IKBKAP_ENST00000467959.1_5'UTR|IKBKAP_ENST00000537196.1_Missense_Mutation_p.H810Y NM_003640.3 NP_003631.2 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 1159 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TCTTGCCCGTGGGGTACCTCA 0.468000 8 26 0 0 0.000274275 0 0 ASTN1 460 broad.mit.edu 37 1 176853551 176853551 + Silent SNP G G A rs150457018 TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:176853551G>A ENST00000367654.2 - 19 3187 c.3174C>T c.(3172-3174)atC>atT p.I1058I ASTN1_ENST00000367657.3_Silent_p.I1050I|ASTN1_ENST00000424564.2_Silent_p.I1050I|ASTN1_ENST00000361833.2_Silent_p.I1050I O14525 ASTN1_HUMAN astrotactin 1 1058 Fibronectin type-III 1. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TCTGCACCCCGATTGGTGGCT 0.547000 21 71 0 0 0.000175454 0 0 NID1 4811 broad.mit.edu 37 1 236143950 236143950 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:236143950G>A ENST00000264187.6 - 17 3313 c.3231C>T c.(3229-3231)aaC>aaT p.N1077N NID1_ENST00000366595.3_Silent_p.N944N NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 1077 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TCCAGTAAAGGTTCCTGGAGG 0.433000 25 29 0 0 0.000227799 0 0 DNER 92737 broad.mit.edu 37 2 230377642 230377642 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:230377642G>A ENST00000341772.4 - 6 1138 c.1004C>T c.(1003-1005)tCc>tTc p.S335F NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 335 EGF-like 3. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) ACAGGTACAGGAAAAAGTTGC 0.438000 13 28 0 0 0.000151284 0 0 ALPK1 80216 broad.mit.edu 37 4 113356441 113356441 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:113356441G>A ENST00000458497.1 + 12 3451 c.3172G>A c.(3172-3174)Gaa>Aaa p.E1058K ALPK1_ENST00000177648.9_Missense_Mutation_p.E1058K|ALPK1_ENST00000504176.2_Missense_Mutation_p.E980K NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 1058 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) TCTTCATCAAGAAGAAATTCT 0.378000 79 148 0 0 0.000781405 0 0 MUC17 140453 broad.mit.edu 37 7 100675855 100675855 + Silent SNP A A C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:100675855A>C ENST00000306151.4 + 3 1222 c.1158A>C c.(1156-1158)tcA>tcC p.S386S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 386 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TGCTAACCTCAACTCTTAGTG 0.458000 20 347 0 0 0.000132079 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2408579 2408579 + Silent SNP C C A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:2408579C>A ENST00000332578.3 + 7 966 c.966C>A c.(964-966)ccC>ccA p.P322P NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 322 Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCTTCCCACCCAGCAAGAAGT 0.627000 6 68 0.000157383 0.0019075 0.000157383 1 0 ZSWIM3 140831 broad.mit.edu 37 20 44506018 44506018 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:44506018C>T ENST00000255152.2 + 2 1030 c.821C>T c.(820-822)tCc>tTc p.S274F ZSWIM3_ENST00000454862.2_Missense_Mutation_p.S268F NM_080752.3 NP_542790.2 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM-type containing 3 274 zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) GAGTTCAACTCCGATTGGCCC 0.532000 27 35 0 0 0.000878237 0 0 NCOR2 9612 broad.mit.edu 37 12 124841297 124841297 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:124841297C>T ENST00000356219.3 - 24 3308 c.3153G>A c.(3151-3153)ggG>ggA p.G1051G NCOR2_ENST00000429285.2_Silent_p.G1034G|NCOR2_ENST00000405201.1_Silent_p.G1044G|NCOR2_ENST00000404621.1_Silent_p.G1034G|NCOR2_ENST00000404121.2_Silent_p.G605G|NCOR2_ENST00000397355.1_Silent_p.G1035G NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1052 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) AAGGGGGGTCCCCAGGCAGCT 0.692000 5 6 0 0 0.000602214 0 0 MDH2 4191 broad.mit.edu 37 7 75686799 75686799 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:75686799C>T ENST00000315758.5 + 3 401 c.307C>T c.(307-309)Ccc>Tcc p.P103S MDH2_ENST00000432020.2_Missense_Mutation_p.P103S|MDH2_ENST00000443006.1_5'UTR NM_005918.2 NP_005909.2 P40926 MDHM_HUMAN malate dehydrogenase 2, NAD (mitochondrial) 103 gluconeogenesis|malate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus|plasma membrane binding|L-malate dehydrogenase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2) 14 NADH(DB00157) GGCTGGAGTCCCCAGAAAGCC 0.468000 27 29 0 0 0.000339439 0 0 ADNP 23394 broad.mit.edu 37 20 49509856 49509856 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:49509856G>A ENST00000396029.3 - 5 1962 c.1395C>T c.(1393-1395)ttC>ttT p.F465F ADNP_ENST00000396032.3_Silent_p.F465F|ADNP_ENST00000371602.4_Silent_p.F465F|ADNP_ENST00000349014.3_Silent_p.F465F NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 465 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.F465F(1) NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 GTTCTTTTTCGAAGTGCACAC 0.388000 79 198 0 0 0.000781405 0 0 IL1R1 3554 broad.mit.edu 37 2 102781300 102781300 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:102781300C>T ENST00000410023.1 + 4 446 c.128C>T c.(127-129)cCc>cTc p.P43L IL1R1_ENST00000233946.3_Missense_Mutation_p.P43L|IL1R1_ENST00000409589.1_Missense_Mutation_p.P43L|IL1R1_ENST00000409288.1_Missense_Mutation_p.P43L|IL1R1_ENST00000424272.1_Missense_Mutation_p.P43L|IL1R1_ENST00000409329.1_Missense_Mutation_p.P43L|IL1R1_ENST00000409929.1_Missense_Mutation_p.P43L P14778 IL1R1_HUMAN interleukin 1 receptor, type I 43 Ig-like C2-type 1. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) GATGTTCGTCCCTGTCCTCTT 0.368000 22 57 0 0 0.000878237 0 0 LSM10 84967 broad.mit.edu 37 1 36859386 36859386 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:36859386C>T ENST00000315732.2 - 2 494 c.345G>A c.(343-345)tgG>tgA p.W115* LSM10_ENST00000476041.1_5'UTR NM_032881.1 NP_116270.1 Q969L4 LSM10_HUMAN LSM10, U7 small nuclear RNA associated 115 histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription Cajal body|U7 snRNP histone pre-mRNA DCP binding|protein binding upper_aerodigestive_tract(1)|urinary_tract(1) 2 Myeloproliferative disorder(586;0.0393) GGGGAAATTCCCACCGGCCTT 0.572000 13 69 0 0 0.00010058 0 0 SSTR5 6755 broad.mit.edu 37 16 1128917 1128917 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr16:1128917C>T ENST00000293897.4 + 1 137 c.49C>T c.(49-51)Ccg>Tcg p.P17S SSTR5_ENST00000562758.1_Missense_Mutation_p.P17S|SSTR5_ENST00000397547.2_Missense_Mutation_p.P17S NM_001053.3 NP_001044.1 P35346 SSR5_HUMAN somatostatin receptor 5 17 negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity endometrium(2)|lung(5)|prostate(1)|skin(1) 9 Hepatocellular(780;0.00369) Octreotide(DB00104) CGCCTCCTCCCCGGGGGCTGC 0.726000 4 4 0 0 0.000602214 0 0 LGALS12 85329 broad.mit.edu 37 11 63279257 63279257 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:63279257C>T ENST00000415491.2 + 6 1089 c.475C>T c.(475-477)Ctc>Ttc p.L159F LGALS12_ENST00000425950.2_Missense_Mutation_p.L150F|LGALS12_ENST00000340246.5_Missense_Mutation_p.L221F|LGALS12_ENST00000255684.5_Missense_Mutation_p.L211F|LGALS12_ENST00000394618.3_Missense_Mutation_p.L220F NM_001142537.1 NP_001136009.1 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 220 Galectin 1. apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 TCCCCAGGGTCTCTCGCCTGG 0.592000 20 30 0 0 0.00047179 0 0 ABCC3 8714 broad.mit.edu 37 17 48757215 48757215 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:48757215C>T ENST00000285238.8 + 26 3842 c.3762C>T c.(3760-3762)atC>atT p.I1254I NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1254 bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) AATCTAACATCGTGGCTGTGG 0.522000 23 46 0 0 0.000586117 0 0 PRSS12 8492 broad.mit.edu 37 4 119256736 119256736 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:119256736G>A ENST00000296498.3 - 3 994 c.712C>T c.(712-714)Cgt>Tgt p.R238C NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 238 SRCR 1. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 CCTCGGCAACGGACATTGCTC 0.453000 30 73 0 0 0.000491102 0 0 SPZ1 84654 broad.mit.edu 37 5 79616163 79616163 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:79616163C>T ENST00000296739.4 + 1 374 c.129C>T c.(127-129)tcC>tcT p.S43S NM_032567.3 NP_115956.3 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 43 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) GATCACATTCCCCTTCCTCCT 0.428000 20 124 0 0 0.000175454 0 0 PPP1R10 5514 broad.mit.edu 37 6 30572382 30572382 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:30572382G>A ENST00000376511.2 - 12 1637 c.1085C>T c.(1084-1086)cCg>cTg p.P362L NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 362 protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 CATGAGCTCCGGGACTTCAAC 0.542000 44 197 0 0 0.000781405 0 0 KRT20 54474 broad.mit.edu 37 17 39041306 39041306 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:39041306G>A ENST00000167588.3 - 1 173 c.132C>T c.(130-132)atC>atT p.I44I NM_019010.2 NP_061883.1 P35900 K1C20_HUMAN keratin 20 44 Head. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) TGGAGATGCGGATGCCCCGGC 0.602000 15 61 0 0 0.000566183 0 0 PARP9 83666 broad.mit.edu 37 3 122269585 122269585 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:122269585G>A ENST00000462315.1 - 6 1465 c.1172C>T c.(1171-1173)tCc>tTc p.S391F PARP9_ENST00000360356.2_Missense_Mutation_p.S426F|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.S391F|PARP9_ENST00000477522.2_Missense_Mutation_p.S391F NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 426 Macro 2. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) GGCAGGAAAGGAAATGGAAGT 0.348000 14 27 0 0 0.00074312 0 0 MAPK12 6300 broad.mit.edu 37 22 50693885 50693885 + Missense_Mutation SNP G G C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr22:50693885G>C ENST00000215659.8 - 10 1162 c.847C>G c.(847-849)Ctg>Gtg p.L283V MAPK12_ENST00000395780.1_Missense_Mutation_p.L193V|MAPK12_ENST00000497036.1_5'UTR NM_002969.3 NP_002960.2 P53778 MK12_HUMAN mitogen-activated protein kinase 12 283 Protein kinase. cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction mitochondrion|nucleoplasm ATP binding|magnesium ion binding|MAP kinase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCCGTACCCAGAGGGCTTGCA 0.612000 24 28 0 0 0.000720815 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724651 38724651 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr14:38724651G>A ENST00000342213.2 - 1 923 c.577C>T c.(577-579)Cgc>Tgc p.R193C NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 193 integral to membrane sugar binding p.R193C(1) breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) AAGGGCGCGCGATAGCTCAAG 0.647000 20 26 0 0 0.000958276 0 0 MUC16 94025 broad.mit.edu 37 19 9085156 9085156 + Missense_Mutation SNP G G T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:9085156G>T ENST00000397910.4 - 1 6862 c.6659C>A c.(6658-6660)cCa>cAa p.P2220Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2220 Ser-rich.|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 GCTGTTTACTGGGATGCTTGT 0.468000 9 48 0.000442599 0.00533455 0.000442599 1 0 SEPT7 989 broad.mit.edu 37 7 35930362 35930362 + Silent SNP T T C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:35930362T>C ENST00000494488.2 + 10 915 c.915T>C c.(913-915)taT>taC p.Y305Y SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000350320.6_Silent_p.Y318Y Q16181 SEPT7_HUMAN septin 7 319 cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity p.Y320Y(3) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1) 14 CTGTGACTTATAATGGAGTTG 0.323000 4 66 0 0 0.00024832 0 0 SOGA2 23255 broad.mit.edu 37 18 8826060 8826060 + Silent SNP T T C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:8826060T>C ENST00000359865.3 + 15 4694 c.4552T>C c.(4552-4554)Tta>Cta p.L1518L SOGA2_ENST00000518815.1_Silent_p.L843L|SOGA2_ENST00000306329.11_Silent_p.L1837L|SOGA2_ENST00000306285.7_Silent_p.L843L|SOGA2_ENST00000517570.1_Silent_p.L1477L|SOGA2_ENST00000400050.3_Silent_p.L1477L NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1828 GAAGCAGGACTTATCTGCTCC 0.602000 3 9 0 0 6.4e-05 0 0 ELAVL4 1996 broad.mit.edu 37 1 50572027 50572027 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:50572027G>A ENST00000357083.4 + 1 64 c.22G>A c.(22-24)Gaa>Aaa p.E8K ELAVL4_ENST00000448907.2_Intron|ELAVL4_ENST00000371827.1_Intron NM_001144775.1 NP_001138247.1 P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 0 mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 TCTTTTAAGGGAAATTGTCAT 0.473000 12 21 0 0 0.000219431 0 0 SUPV3L1 6832 broad.mit.edu 37 10 70958868 70958868 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr10:70958868C>T ENST00000359655.4 + 10 1273 c.1213C>T c.(1213-1215)Ctt>Ttt p.L405F NM_003171.3 NP_003162.2 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 (S. cerevisiae) 405 Helicase C-terminal. DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGGGACCAAACTTGCTCAAGC 0.353000 15 31 0 0 0.000308642 0 0 FXYD6 53826 broad.mit.edu 37 11 117711882 117711882 + Missense_Mutation SNP T T C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:117711882T>C ENST00000526014.1 - 5 785 c.190A>G c.(190-192)Agt>Ggt p.S64G FXYD6_ENST00000260282.4_Missense_Mutation_p.S64G|FXYD6_ENST00000524656.1_Missense_Mutation_p.S64G|FXYD6_ENST00000583233.1_5'UTR|FXYD6_ENST00000540359.1_Missense_Mutation_p.S64G|FXYD6_ENST00000539526.1_Missense_Mutation_p.S64G|FXYD6-FXYD2_ENST00000532984.1_Intron|FXYD6_ENST00000530956.1_Missense_Mutation_p.S64G|FXYD6_ENST00000527717.1_Missense_Mutation_p.S64G|FXYD6_ENST00000529335.2_Missense_Mutation_p.S63G|FXYD6_ENST00000527429.1_Missense_Mutation_p.S64G|FXYD6_ENST00000584394.1_Missense_Mutation_p.S64G|FXYD6_ENST00000584230.1_Missense_Mutation_p.S64G NM_022003.3 NP_071286.1 FXYD domain containing ion transport regulator 6 central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1) 8 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122) TGATTGAAACTGCACTTGCAC 0.577000 9 19 0 0 0.00010058 0 0 MICALL1 85377 broad.mit.edu 37 22 38323801 38323801 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr22:38323801C>T ENST00000215957.6 + 9 1975 c.1849C>T c.(1849-1851)Cct>Tct p.P617S MICALL1_ENST00000402631.1_3'UTR NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 617 Pro-rich. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) GGTGCCTTCCCCTGGAAGCTC 0.632000 31 37 0 0 0.00058488 0 0 TRIM58 25893 broad.mit.edu 37 1 248039677 248039677 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:248039677C>T ENST00000366481.3 + 6 1395 c.1347C>T c.(1345-1347)ttC>ttT p.F449F OR2W3_ENST00000537741.1_Intron NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 449 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CTTACTTTTTCATCTGTGATG 0.423000 53 56 0 0 0.000781405 0 0 IGKV1-17 28937 broad.mit.edu 37 2 89417258 89417258 + RNA SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:89417258G>A ENST00000490686.1 - 0 77 CCTTACCTGGGAACCAGAGCA 0.507000 8 209 0 0 0.000673444 0 0 MSANTD4 84437 broad.mit.edu 37 11 105880595 105880595 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:105880595G>A ENST00000301919.4 - 3 2120 c.705C>T c.(703-705)atC>atT p.I235I NM_032424.1 NP_115800.1 Q8NCY6 K1826_HUMAN Myb/SANT-like DNA-binding domain containing 4 with coiled-coils 235 nucleus TCTCTTTCTCGATTTGTAGGC 0.453000 36 67 0 0 0.000191422 0 0 RPS11 6205 broad.mit.edu 37 19 50001293 50001293 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:50001293C>T ENST00000270625.2 + 4 426 c.343C>T c.(343-345)Ccc>Tcc p.P115S RPS11_ENST00000594493.1_Missense_Mutation_p.P36S|RPS11_ENST00000596873.1_Missense_Mutation_p.P115S|RPS11_ENST00000599561.1_Missense_Mutation_p.P80L NM_001015.4 NP_001006.1 P62280 RS11_HUMAN ribosomal protein S11 115 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|rRNA binding|structural constituent of ribosome kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 7 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245) ACACCTGTCCCCCTGCTTCAG 0.557000 12 41 0 0 0.000219431 0 0 TNRC18 84629 broad.mit.edu 37 7 5348975 5348975 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:5348975G>A ENST00000399537.4 - 28 8761 c.8413C>T c.(8413-8415)Cgc>Tgc p.R2805C TNRC18_ENST00000430969.1_Missense_Mutation_p.R2805C O15417 TNC18_HUMAN trinucleotide repeat containing 18 2805 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) AAGAGCTTGCGGGCCTTGCCC 0.672000 8 19 0 0 0.000274275 0 0 LRMP 4033 broad.mit.edu 37 12 25243071 25243071 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:25243071C>T ENST00000354454.3 + 13 1375 c.546C>T c.(544-546)tcC>tcT p.S182S LRMP_ENST00000547044.1_Silent_p.S182S|LRMP_ENST00000548766.1_Silent_p.S182S NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 238 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) AAGAGAGGTCCCGTGACTTGG 0.363000 145 44 0 0 0.000781405 0 0 IGKV1D-17 28900 broad.mit.edu 37 2 90121708 90121708 + RNA SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:90121708C>T ENST00000483379.1 + 0 232 TGCTCTGGTTCCCAGGTAAGG 0.498000 28 61 0 0 0.000339439 0 0 TANC1 85461 broad.mit.edu 37 2 160007007 160007007 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:160007007C>T ENST00000263635.6 + 7 859 c.622C>T c.(622-624)Ccc>Tcc p.P208S TANC1_ENST00000454300.1_Intron NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 208 Ser-rich. cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 CAACAAAAGTCCCTGTGAGAC 0.507000 22 34 0 0 0.00047179 0 0 CCDC8 83987 broad.mit.edu 37 19 46914505 46914505 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:46914505C>T ENST00000307522.3 - 1 2336 c.1563G>A c.(1561-1563)ctG>ctA p.L521L NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 521 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CCTCGGCCCTCAGCACCCTGA 0.647000 9 61 0 0 0.000442599 0 0 RGMB 285704 broad.mit.edu 37 5 98115338 98115338 + Missense_Mutation SNP T T A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:98115338T>A ENST00000308234.7 + 4 716 c.314T>A c.(313-315)gTg>gAg p.V105E RGMB_ENST00000513185.1_Missense_Mutation_p.V64E|RGMB_ENST00000504776.1_3'UTR NM_001012761.2 NP_001012779.2 Q6NW40 RGMB_HUMAN repulsive guidance molecule family member b 64 axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft identical protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 10 all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0587) ACGGACTTCGTGTCCCTGACT 0.493000 74 115 0 0 0.000781405 0 0 ERG 2078 broad.mit.edu 37 21 39774506 39774506 + Missense_Mutation SNP G G T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr21:39774506G>T ENST00000442448.1 - 7 938 c.667C>A c.(667-669)Cca>Aca p.P223T ERG_ENST00000398907.1_Missense_Mutation_p.P216T|ERG_ENST00000398911.1_Missense_Mutation_p.P223T|ERG_ENST00000288319.7_Missense_Mutation_p.P216T|ERG_ENST00000398919.2_Missense_Mutation_p.P223T|ERG_ENST00000429727.2_Intron|ERG_ENST00000398905.1_Missense_Mutation_p.P216T|ERG_ENST00000453032.2_Missense_Mutation_p.P124T|ERG_ENST00000398910.1_Missense_Mutation_p.P223T|ERG_ENST00000417133.2_Missense_Mutation_p.P223T|ERG_ENST00000398897.1_Missense_Mutation_p.P124T NM_004449.4 NP_004440.1 P11308 ERG_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 223 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) ATTAACCGTGGAGAGTTTTGT 0.438000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 14 37 2.23348e-06 2.75315e-05 0.000422831 1 0 VWC2 375567 broad.mit.edu 37 7 49842382 49842382 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:49842382G>A ENST00000340652.3 + 3 1328 c.772G>A c.(772-774)Gag>Aag p.E258K NM_198570.3 NP_940972.2 Q2TAL6 VWC2_HUMAN von Willebrand factor C domain containing 2 258 VWFC 2. negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 TCCCCAGACGGAGTGTGTGGA 0.567000 11 104 0 0 0.00010058 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 56 50 0 0 0.000781405 0 0 DNAH11 8701 broad.mit.edu 37 7 21934243 21934243 + Silent SNP T T A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:21934243T>A ENST00000328843.6 + 79 12805 c.12774T>A c.(12772-12774)gtT>gtA p.V4258V DNAH11_ENST00000409508.3_Silent_p.V4251V Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4258 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GATTTAAGGTTAAGAATGTCT 0.328000 Kartagener syndrome 24 102 0 0 0.00047179 0 0 TXNDC2 84203 broad.mit.edu 37 18 9888079 9888079 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:9888079G>A ENST00000306084.6 + 2 1802 c.1603G>A c.(1603-1605)Gat>Aat p.D535N TXNDC2_ENST00000577697.1_3'UTR|TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.D468N NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 535 Thioredoxin. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 AGAAAAGGTGGATGAACTTTG 0.428000 13 10 0 0 0.000151284 0 0 XKR5 389610 broad.mit.edu 37 8 6682798 6682798 + RNA SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:6682798C>T ENST00000518724.1 - 0 466 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) AGGTCGGCCTCCTGCAGCTGC 0.612000 8 19 0 0 0.000157383 0 0 CPXM1 56265 broad.mit.edu 37 20 2777035 2777035 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:2777035C>T ENST00000380605.2 - 9 1164 c.1100G>A c.(1099-1101)cGg>cAg p.R367Q NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 367 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 AAGCAACTCCCGCCCCAGGGC 0.652000 16 63 0 0 0.00074312 0 0 NUTM1 256646 broad.mit.edu 37 15 34640410 34640410 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr15:34640410G>A ENST00000537011.1 + 3 723 c.341G>A c.(340-342)gGc>gAc p.G114D NUTM1_ENST00000438749.3_Missense_Mutation_p.G104D|NUTM1_ENST00000333756.4_Missense_Mutation_p.G86D NUT midline carcinoma, family member 1 GCTGGGGCTGGCAAGGTCATT 0.557000 15 39 0 0 0.000219431 0 0 MB 4151 broad.mit.edu 37 22 36003387 36003387 + Missense_Mutation SNP T T G TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr22:36003387T>G ENST00000397326.2 - 3 620 c.422A>C c.(421-423)aAg>aCg p.K141T MB_ENST00000397328.1_Missense_Mutation_p.K141T|MB_ENST00000406324.1_Missense_Mutation_p.K141T|MB_ENST00000359787.1_Missense_Mutation_p.K141T|MB_ENST00000401702.1_Missense_Mutation_p.K86T NM_005368.2 NP_005359.1 P02144 MYG_HUMAN myoglobin 141 heme binding|oxygen transporter activity lung(1) 1 GGCCATGTCCTTCCGGAACAG 0.632000 15 34 0 0 0.000422831 0 0 RBM42 79171 broad.mit.edu 37 19 36128163 36128163 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:36128163C>T ENST00000262633.4 + 9 1344 c.1239C>T c.(1237-1239)atC>atT p.I413I RBM42_ENST00000589871.1_Silent_p.I391I|RBM42_ENST00000589559.1_Intron|RBM42_ENST00000592202.1_Silent_p.I359I|RBM42_ENST00000586618.1_Silent_p.I117I|RBM42_ENST00000588161.1_Silent_p.I383I|RBM42_ENST00000360475.4_Silent_p.I384I NM_024321.3 NP_077297.2 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 413 Necessary for interaction with HNRNPK (By similarity).|RRM. cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCAAGGTGATCCGTGACAAGC 0.587000 6 57 0 0 8.12818e-05 0 0 PSKH2 85481 broad.mit.edu 37 8 87076413 87076413 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:87076413C>T ENST00000276616.2 - 2 707 c.633G>A c.(631-633)ggG>ggA p.G211G PSKH2_ENST00000517981.1_5'UTR NM_033126.1 NP_149117.1 Q96QS6 KPSH2_HUMAN protein serine kinase H2 211 Protein kinase. G -> R (in dbSNP:rs36074412). ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1) 47 STAD - Stomach adenocarcinoma(118;0.129) CACTTTTTTTCCCGGAGTATG 0.418000 5 54 0 0 0.000602214 0 0 PPRC1 23082 broad.mit.edu 37 10 103906857 103906857 + Missense_Mutation SNP C C G TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr10:103906857C>G ENST00000278070.2 + 9 4147 c.4108C>G c.(4108-4110)Ctt>Gtt p.L1370V PPRC1_ENST00000370012.1_Missense_Mutation_p.L337V|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1370 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) AGCACCCTGCCTTGCCCCATC 0.642000 6 14 0 0 3.59834e-05 0 0 SGK494 124923 broad.mit.edu 37 17 26938597 26938597 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:26938597G>A ENST00000301037.5 - 9 798 c.799C>T c.(799-801)Ctt>Ttt p.L267F SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.4_ENST00000534850.1_3'UTR|RP11-192H23.4_ENST00000577790.1_Intron NM_001174103.1 NP_001167574.1 ATGTACTGAAGAGTGCCACAG 0.493000 63 113 0 0 0.000781405 0 0 TMEM184A 202915 broad.mit.edu 37 7 1595015 1595015 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:1595015C>T ENST00000297477.5 - 2 422 c.106G>A c.(106-108)Gac>Aac p.D36N NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 36 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) CCCATGTGGTCCATCTGCGGC 0.687000 50 38 0 0 0.000781405 0 0 BLZF1 8548 broad.mit.edu 37 1 169347625 169347625 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:169347625C>T ENST00000367808.3 + 4 949 c.526C>T c.(526-528)Cac>Tac p.H176Y BLZF1_ENST00000329281.2_Missense_Mutation_p.H176Y Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 176 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 14 all_hematologic(923;0.208) TCTTCAGTATCACTTTGAACG 0.388000 49 60 0 0 0.000781405 0 0 RAD50 10111 broad.mit.edu 37 5 131931281 131931281 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:131931281C>T ENST00000378823.3 + 13 2387 c.1569C>T c.(1567-1569)gcC>gcT p.A523A RAD50_ENST00000265335.6_Silent_p.A662A NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 662 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGGCTGGAGCCACAGCAGTTT 0.373000 Homologous recombination 13 17 0 0 0.000219431 0 0 TTN 7273 broad.mit.edu 37 2 179605631 179605631 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:179605631C>T ENST00000589042.1 - 48 12553 c.12329G>A c.(12328-12330)gGa>gAa p.G4110E TTN_ENST00000342175.6_Missense_Mutation_p.G3939E|TTN_ENST00000591111.1_Missense_Mutation_p.G3793E|TTN_ENST00000460472.2_Missense_Mutation_p.G3747E|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G3872E|TTN-AS1_ENST00000582847.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3793 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCCTGAGCTCCCAAAGGAAG 0.418000 59 83 0 0 0.000781405 0 0 ZNF705B 100132396 broad.mit.edu 37 8 7806707 7806707 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:7806707G>A ENST00000443676.1 + 3 185 c.69G>A c.(67-69)atG>atA p.M23I ZNF705B_ENST00000400120.3_Missense_Mutation_p.M23I P0CI00 Z705L_HUMAN zinc finger protein 705B 23 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding kidney(2)|lung(2) 4 AGTGGGACATGATGGACACAT 0.418000 58 176 0 0 0.000781405 0 0 DDX53 168400 broad.mit.edu 37 X 23018475 23018475 + Missense_Mutation SNP A A T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chrX:23018475A>T ENST00000327968.5 + 1 389 c.301A>T c.(301-303)Atg>Ttg p.M101L RP11-40F8.2_ENST00000455399.1_RNA NM_182699.3 NP_874358.2 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 101 KH. nucleus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 CAATAGGGAAATGAAAGCAAA 0.368000 37 26 0 0 0.000953801 0 0 OR52E2 119678 broad.mit.edu 37 11 5080590 5080590 + Missense_Mutation SNP T T C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:5080590T>C ENST00000321522.2 - 1 267 c.268A>G c.(268-270)Aac>Gac p.N90D NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) CCTCTGAGGTTGATCCAGAAG 0.488000 8 14 0 0 0.000274275 0 0 OR10A3 26496 broad.mit.edu 37 11 7960726 7960726 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:7960726G>A ENST00000360759.3 - 1 415 c.342C>T c.(340-342)ctC>ctT p.L114L NM_001003745.1 NP_001003745.1 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, member 3 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCGCTCCCAGGAGAAAACATT 0.408000 9 22 0 0 0.000442599 0 0 KRT9 3857 broad.mit.edu 37 17 39723595 39723595 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:39723595C>T ENST00000246662.4 - 7 1867 c.1802G>A c.(1801-1803)gGa>gAa p.G601E KRT9_ENST00000588431.1_Missense_Mutation_p.G368E NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 601 Tail. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) ttcaccgcctccgtagctgcc 0.562000 5 29 0 0 0.000602214 0 0 ZNF282 8427 broad.mit.edu 37 7 148895701 148895701 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:148895701G>A ENST00000262085.3 + 2 547 c.442G>A c.(442-444)Gag>Aag p.E148K ZNF282_ENST00000479907.1_Missense_Mutation_p.E148K NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 148 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) GAACCACATGGAGAGCAAGTG 0.627000 52 44 0 0 0.000781405 0 0 TLE4 7091 broad.mit.edu 37 9 82267552 82267552 + Silent SNP C C T rs3186577 TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr9:82267552C>T ENST00000376520.4 + 7 1263 c.435C>T c.(433-435)ccC>ccT p.P145P TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000265284.6_Silent_p.P120P|TLE4_ENST00000376544.3_Silent_p.P145P|TLE4_ENST00000376537.4_Silent_p.P145P|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376552.2_Silent_p.P145P O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 p.P145P(2) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 ATGGTCTCCCCGTACCTCTGA 0.557000 33 70 0 0 0.000814825 0 0 ABCB5 340273 broad.mit.edu 37 7 20725337 20725337 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:20725337G>A ENST00000404938.2 + 16 2540 c.1888G>A c.(1888-1890)Gaa>Aaa p.E630K ABCB5_ENST00000258738.6_Missense_Mutation_p.E185K NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 185 ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 AAAAGCTGATGAACAGATGGA 0.348000 23 32 0 0 0.00047179 0 0 MED17 9440 broad.mit.edu 37 11 93523911 93523911 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:93523911C>T ENST00000251871.3 + 3 876 c.589C>T c.(589-591)Cga>Tga p.R197* NM_004268.4 NP_004259.3 Q9NVC6 MED17_HUMAN mediator complex subunit 17 197 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(2)|lung(11)|ovary(1) 14 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CTGGAAACTTCGAAAAGTTGG 0.398000 24 44 0 0 0.000147802 0 0 ZNF277 11179 broad.mit.edu 37 7 111846826 111846826 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:111846826G>A ENST00000421043.1 + 1 75 c.55G>A c.(55-57)Ggg>Agg p.G19R ZNF277_ENST00000450657.1_Missense_Mutation_p.G19R|ZNF277_ENST00000361822.3_Missense_Mutation_p.G19R Q9NRM2 ZN277_HUMAN zinc finger protein 277 19 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 15 AGACCGTGATGGGAGCTGCAG 0.632000 11 45 0 0 0.000308642 0 0 NEB 4703 broad.mit.edu 37 2 152490354 152490354 + Silent SNP T T C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:152490354T>C ENST00000427231.2 - 65 9430 c.9228A>G c.(9226-9228)aaA>aaG p.K3076K NEB_ENST00000409198.1_Intron|NEB_ENST00000397345.3_Silent_p.K3076K|NEB_ENST00000172853.10_Intron|NEB_ENST00000604864.1_Silent_p.K3076K|NEB_ENST00000603639.1_Silent_p.K3076K NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 3076 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CAAAGTCCTTTTTGTACTCCC 0.527000 76 189 0 0 0.000781405 0 0 LATS2 26524 broad.mit.edu 37 13 21565530 21565530 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr13:21565530C>T ENST00000382592.4 - 3 761 c.356G>A c.(355-357)cGa>cAa p.R119Q LATS2_ENST00000472754.1_5'UTR|LATS2_ENST00000542899.1_Missense_Mutation_p.R119Q NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 119 UBA. cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) CTTGAGAGCTCGGCCAGCCAT 0.572000 9 31 0 0 0.000442599 0 0 HECW1 23072 broad.mit.edu 37 7 43477638 43477638 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:43477638G>A ENST00000395891.1 + 9 1443 c.838G>A c.(838-840)Gaa>Aaa p.E280K HECW1_ENST00000453890.1_Missense_Mutation_p.E280K|HECW1_ENST00000471043.1_3'UTR NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 280 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 TGACGTGCTGGAAATTGAGGT 0.498000 72 80 0 0 0.000781405 0 0 TRIM10 10107 broad.mit.edu 37 6 30128351 30128351 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:30128351C>T ENST00000449742.2 - 1 360 c.285G>A c.(283-285)gaG>gaA p.E95E TRIM10_ENST00000376704.3_Silent_p.E95E NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 95 cytoplasm zinc ion binding ovary(1) 1 AGACATCCTCCTCTCCCAAAC 0.587000 22 154 0 0 0.000295444 0 0 ASB10 136371 broad.mit.edu 37 7 150873287 150873287 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:150873287C>T ENST00000422024.1 - 5 1576 c.1451G>A c.(1450-1452)gGc>gAc p.G484D ASB10_ENST00000377867.3_Missense_Mutation_p.G424D|ASB10_ENST00000275838.1_Missense_Mutation_p.G401D|ASB10_ENST00000434669.1_Missense_Mutation_p.G446D|ASB10_ENST00000420175.2_Missense_Mutation_p.G439D NM_001142459.1 NP_001135931.2 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 439 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGGCAGGCTGCCCTCCAGGTG 0.667000 28 18 0 0 0.000279167 0 0 BTNL8 79908 broad.mit.edu 37 5 180374511 180374511 + Splice_Site SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:180374511G>A ENST00000231229.4 + 4 907 c.e4-1 BTNL8_ENST00000400707.3_Splice_Site|BTNL8_ENST00000508408.1_Splice_Site|BTNL8_ENST00000533815.2_Splice_Site|BTNL8_ENST00000340184.4_Splice_Site|BTNL8_ENST00000511704.1_Splice_Site|BTNL8_ENST00000505126.1_Splice_Site NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTGTTTTTCAGATACCTTTTT 0.393000 26 168 0 0 0.000147802 0 0 IGSF22 283284 broad.mit.edu 37 11 18738353 18738353 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:18738353C>T ENST00000513874.1 - 10 1307 c.1168G>A c.(1168-1170)Gat>Aat p.D390N RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 390 NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 AGTCTGGCATCCTTAATCTTA 0.527000 50 78 0 0 0.000781405 0 0 NDUFAF5 79133 broad.mit.edu 37 20 13782284 13782284 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:13782284C>T ENST00000378106.5 + 7 791 c.672C>T c.(670-672)gaC>gaT p.D224D NDUFAF5_ENST00000463598.1_Silent_p.D196D|NDUFAF5_ENST00000475968.1_3'UTR NM_024120.4 NP_077025.2 Q5TEU4 CT007_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 224 mitochondrial respiratory chain complex I assembly extrinsic to mitochondrial inner membrane methyltransferase activity CTGTCAATGACCTGGGACATC 0.433000 30 85 0 0 0.000692331 0 0 TRAV13-1 28671 broad.mit.edu 37 14 22337313 22337313 + RNA SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr14:22337313G>A ENST00000390436.2 + 0 127 GTCCAGGAGGGAGACAGCGCT 0.438000 21 43 0 0 0.000132079 0 0 MAP7 9053 broad.mit.edu 37 6 136667047 136667047 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:136667047C>T ENST00000354570.3 - 17 2596 c.2186G>A c.(2185-2187)gGg>gAg p.G729E MAP7_ENST00000454590.1_Missense_Mutation_p.G751E|MAP7_ENST00000438100.2_Missense_Mutation_p.G714E|MAP7_ENST00000432797.2_Missense_Mutation_p.G583E|MAP7_ENST00000544465.1_Missense_Mutation_p.G714E NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 729 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) CCCAAGTGTCCCTTCATCATC 0.458000 10 13 0 0 6.40141e-05 0 0 KCNQ3 3786 broad.mit.edu 37 8 133152391 133152391 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:133152391C>T ENST00000388996.4 - 11 1920 c.1500G>A c.(1498-1500)agG>agA p.R500R KCNQ3_ENST00000521134.1_Silent_p.R380R|KCNQ3_ENST00000519445.1_Silent_p.R500R NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 500 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TCCCATAGCCCCTGTCTTCCG 0.617000 12 22 0 0 6.40141e-05 0 0 CLDN25 644672 broad.mit.edu 37 11 113650669 113650669 + Missense_Mutation SNP G G T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:113650669G>T ENST00000453129.2 + 1 201 c.152G>T c.(151-153)tGg>tTg p.W51L NM_001101389.1 NP_001094859.1 C9JDP6 CLD25_HUMAN claudin 25 51 integral to membrane|tight junction structural molecule activity large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2) 10 ATGGGGATTTGGGAGGTCTGC 0.562000 10 68 2.17888e-05 0.000266314 0.000442599 1 0 CDH17 1015 broad.mit.edu 37 8 95183181 95183181 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:95183181G>A ENST00000027335.3 - 8 940 c.816C>T c.(814-816)tcC>tcT p.S272S CDH17_ENST00000450165.2_Silent_p.S272S|CDH17_ENST00000441892.2_Intron NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 272 Cadherin 3. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TGTCAACTAAGGAATATTGTG 0.453000 36 47 0 0 0.000692331 0 0 PTPRU 10076 broad.mit.edu 37 1 29587201 29587201 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:29587201C>T ENST00000356870.3 + 7 1040 c.930C>T c.(928-930)tcC>tcT p.S310S PTPRU_ENST00000345512.3_Silent_p.S310S|PTPRU_ENST00000323874.8_Silent_p.S310S|PTPRU_ENST00000460170.2_Silent_p.S310S|PTPRU_ENST00000428026.2_Silent_p.S310S|PTPRU_ENST00000373779.3_Silent_p.S310S NM_133177.3 NP_573438.3 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 310 Fibronectin type-III 1. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) ACACCAACTCCATCATTGGCG 0.657000 6 33 0 0 3.59834e-05 0 0 ANKRD12 23253 broad.mit.edu 37 18 9255436 9255436 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:9255436C>T ENST00000383440.2 + 8 2359 c.2102C>T c.(2101-2103)tCa>tTa p.S701L ANKRD12_ENST00000262126.3_Missense_Mutation_p.S724L|ANKRD12_ENST00000400020.3_Missense_Mutation_p.S701L NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 724 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 GAAAAAAAATCAAAATTGGAA 0.274000 9 40 0 0 0.000274275 0 0 ARG1 383 broad.mit.edu 37 6 131904954 131904954 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:131904954C>T ENST00000368087.3 + 8 1014 c.875C>T c.(874-876)aCa>aTa p.T292I ARG1_ENST00000476845.1_Missense_Mutation_p.T206I|ARG1_ENST00000356962.2_Missense_Mutation_p.T300I|MED23_ENST00000354577.4_Intron P05089 ARGI1_HUMAN arginase 1 292 arginine catabolic process|urea cycle cytosol arginase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3) 14 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713) L-Ornithine(DB00129) GTAACTCGAACAGTGAACACA 0.428000 7 23 0 0 8.12818e-05 0 0 C7orf26 79034 broad.mit.edu 37 7 6639599 6639599 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:6639599C>T ENST00000344417.5 + 4 987 c.720C>T c.(718-720)ctC>ctT p.L240L C7orf26_ENST00000472693.1_3'UTR|C7orf26_ENST00000359073.5_Intron NM_024067.2 NP_076972.2 Q96N11 CG026_HUMAN chromosome 7 open reading frame 26 240 endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 11 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986) TCACCCCGCTCGTTGGATTGA 0.483000 9 79 0 0 0.000274275 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:12887606C>G ENST00000535591.1 - 3 446 c.251G>C c.(250-252)tGc>tCc p.C84S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 84 p.C84S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATTGAGGAAGCACCCATGGGC 0.483000 7 293 0 0 0.000274275 0 0 MIER3 166968 broad.mit.edu 37 5 56219660 56219660 + Splice_Site SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:56219660C>T ENST00000381226.3 - 12 1083 c.1067_splice c.e12-1 p.T356_splice MIER3_ENST00000381213.3_Splice_Site_p.T350_splice|MIER3_ENST00000381199.3_Splice_Site_p.T351_splice|MIER3_ENST00000409421.1_Splice_Site_p.T288_splice|SETD9_ENST00000541720.1_Intron Q7Z3K6 MIER3_HUMAN mesoderm induction early response 1, family member 3 351 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1) 19 Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;1.24e-37) CCATATAGTCCCTGAAAAACA 0.418000 17 162 0 0 0.000958276 0 0 RGS21 431704 broad.mit.edu 37 1 192335123 192335123 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:192335123G>A ENST00000417209.2 + 5 502 c.328G>A c.(328-330)Gag>Aag p.E110K NM_001039152.3 NP_001034241.1 Q2M5E4 RGS21_HUMAN regulator of G-protein signaling 21 110 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 15 ATGCTTTGATGAGGCTCAGAA 0.378000 62 44 0 0 0.000781405 0 0 MYH3 4621 broad.mit.edu 37 17 10537449 10537449 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:10537449C>T ENST00000583535.1 - 32 4494 c.4407G>A c.(4405-4407)gaG>gaA p.E1469E MYH3_ENST00000226209.7_Silent_p.E1469E NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1469 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TCAGGGATGCCTCCAGCTCTG 0.507000 32 109 0 0 0.000814825 0 0 IL7R 3575 broad.mit.edu 37 5 35876102 35876102 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:35876102C>T ENST00000303115.3 + 8 1023 c.894C>T c.(892-894)ttC>ttT p.F298F IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 298 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) ATGTGAGTTTCAATCCTGAAA 0.418000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 21 20 0 0 0.000295444 0 0 ZNF80 7634 broad.mit.edu 37 3 113955133 113955133 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:113955133C>T ENST00000482457.2 - 1 1292 c.789G>A c.(787-789)caG>caA p.Q263Q NM_007136.3 NP_009067.2 P51504 ZNF80_HUMAN zinc finger protein 80 263 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) GGATCTTACTCTGTTGGGCAA 0.413000 17 45 0 0 0.000175454 0 0 SNORD114-3 767579 broad.mit.edu 37 14 101419690 101419690 + RNA SNP C C T rs73350929 by1000genomes TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr14:101419690C>T ENST00000364969.1 + 0 5 NR_003195.1 taaaCATGGACCAATGATGAC 0.483000 12 45 0 0 0.00010058 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826231 43826231 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:43826231G>A ENST00000389420.3 - 21 2971 c.2972C>T c.(2971-2973)tCt>tTt p.S991F ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S991F|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.S145F NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 991 TSP type-1 4. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CATACAATAAGATTCTCGAGA 0.378000 45 38 0 0 0.000781405 0 0 RP1L1 94137 broad.mit.edu 37 8 10469228 10469228 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:10469228C>T ENST00000382483.3 - 4 2603 c.2380G>A c.(2380-2382)Gaa>Aaa p.E794K NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 794 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) CTGGCCTCTTCCCCCAGGCTG 0.692000 26 56 0 0 0.000339439 0 0 AGO1 26523 broad.mit.edu 37 1 36384665 36384665 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:36384665C>T ENST00000373204.4 + 18 2488 c.2275C>T c.(2275-2277)Cga>Tga p.R759* AGO1_ENST00000373206.1_Nonsense_Mutation_p.R684* NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 GGGCACCAGCCGACCATCCCA 0.527000 16 15 0 0 0.000132079 0 0 CHD1 1105 broad.mit.edu 37 5 98230354 98230354 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:98230354G>A ENST00000284049.3 - 12 1896 c.1747C>T c.(1747-1749)Cgg>Tgg p.R583W NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 583 Helicase ATP-binding. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) AATTTTAACCGTTTGGTCTGA 0.259000 5 8 0 0 8.12818e-05 0 0 OR10A3 26496 broad.mit.edu 37 11 7960727 7960727 + Missense_Mutation SNP A A C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:7960727A>C ENST00000360759.3 - 1 414 c.341T>G c.(340-342)cTc>cGc p.L114R NM_001003745.1 NP_001003745.1 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, member 3 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CGCTCCCAGGAGAAAACATTC 0.408000 10 22 0 0 6.40141e-05 0 0 LSR 51599 broad.mit.edu 37 19 35757839 35757839 + Silent SNP A A C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:35757839A>C ENST00000602122.1 + 7 1684 c.1197A>C c.(1195-1197)cgA>cgC p.R399R LSR_ENST00000354900.3_Silent_p.R400R|LSR_ENST00000361790.3_Silent_p.R419R|LSR_ENST00000427250.1_Silent_p.R263R|LSR_ENST00000347609.4_Silent_p.R361R|LSR_ENST00000360798.3_Silent_p.R351R Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 419 embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) ACCCTTCTCGACCTGGCCCCC 0.612000 5 29 0 0 3.59834e-05 0 0 SLC16A14 151473 broad.mit.edu 37 2 230910937 230910937 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:230910937G>A ENST00000295190.4 - 4 1363 c.905C>T c.(904-906)tCg>tTg p.S302L NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 302 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) AAAGTAGCCCGAATACCAGTC 0.493000 12 26 0 0 0.00010058 0 0 IL15RA 3601 broad.mit.edu 37 10 6002363 6002363 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr10:6002363C>T ENST00000525219.2 - 4 736 c.442G>A c.(442-444)Gaa>Aaa p.E148K IL15RA_ENST00000379971.1_Missense_Mutation_p.E86K|IL15RA_ENST00000397250.2_Missense_Mutation_p.E86K|IL15RA_ENST00000397255.3_Missense_Mutation_p.E184K|IL15RA_ENST00000397248.2_Missense_Mutation_p.E148K|IL15RA_ENST00000528354.1_Missense_Mutation_p.E151K|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000530685.1_Missense_Mutation_p.E151K|IL15RA_ENST00000397251.3_Missense_Mutation_p.E119K|IL15RA_ENST00000379977.3_Missense_Mutation_p.E184K NM_001243539.1 NP_001230468.1 Q13261 I15RA_HUMAN interleukin 15 receptor, alpha 184 cell proliferation cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane cytokine receptor activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 GCTGTGAGTTCCCAGTTCTTG 0.572000 21 58 0 0 0.00047179 0 0 SERPINB3 6317 broad.mit.edu 37 18 61322970 61322970 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:61322970C>T ENST00000283752.5 - 8 1237 c.1094G>A c.(1093-1095)tGt>tAt p.C365Y SERPINB3_ENST00000332821.8_Missense_Mutation_p.C313Y|SERPINB11_ENST00000489748.1_RNA NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 365 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 AGGGTGATTACAATGGAACTC 0.463000 27 86 0 0 0.000586117 0 0 OR7C1 26664 broad.mit.edu 37 19 14910268 14910268 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:14910268C>T ENST00000248073.2 - 1 755 c.681G>A c.(679-681)agG>agA p.R227R OR7A5_ENST00000601611.1_Intron NM_198944.1 NP_945182.1 O76099 OR7C1_HUMAN olfactory receptor, family 7, subfamily C, member 1 227 sensory perception of smell|spermatogenesis integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1) 18 CTGAGGAAATCCTCAGTATAG 0.438000 30 35 0 0 0.000184323 0 0 ZNF90 7643 broad.mit.edu 37 19 20215083 20215083 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:20215083C>T ENST00000418063.2 + 2 151 c.39C>T c.(37-39)ttC>ttT p.F13F ZNF90_ENST00000474284.1_Intron NM_007138.1 NP_009069.1 Q03938 ZNF90_HUMAN zinc finger protein 90 13 KRAB. Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 CCATAGAATTCTCTCTGGAGG 0.423000 31 54 0 0 0.000491102 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14848844 14848844 + Missense_Mutation SNP A A T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:14848844A>T ENST00000358984.4 + 34 3134 c.2954A>T c.(2953-2955)cAa>cTa p.Q985L NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1070 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 TGTGTACTACAAAAGGAACTG 0.358000 6 20 0 0 0.000442599 0 0 SORCS2 57537 broad.mit.edu 37 4 7719824 7719824 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:7719824C>T ENST00000507866.2 + 18 2447 c.2338C>T c.(2338-2340)Ccc>Tcc p.P780S SORCS2_ENST00000329016.9_Missense_Mutation_p.P608S NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 780 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 CCTCACGCCGCCCCGGGGCCT 0.647000 8 21 0 0 0.000274275 0 0 SPNS3 201305 broad.mit.edu 37 17 4356364 4356364 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:4356364G>A ENST00000355530.2 + 8 1257 c.977G>A c.(976-978)gGg>gAg p.G326E SPNS3_ENST00000333476.2_Missense_Mutation_p.G199E|SPNS3_ENST00000576069.1_3'UTR NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 326 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 GTCATCTTGGGGGCAGAAGCT 0.592000 48 67 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179495667 179495667 + Missense_Mutation SNP C C A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:179495667C>A ENST00000589042.1 - 238 44242 c.44018G>T c.(44017-44019)cGg>cTg p.R14673L TTN_ENST00000342175.6_Missense_Mutation_p.R5800L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R13032L|TTN_ENST00000460472.2_Missense_Mutation_p.R5608L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12105L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5733L|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13032 Ig-like 96. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTAATTTCCCGATCTAGAAA 0.473000 13 42 5.50884e-06 6.75222e-05 0.00010058 1 0 RNF38 152006 broad.mit.edu 37 9 36357773 36357773 + Splice_Site SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr9:36357773G>A ENST00000357058.3 - 5 1094 c.489_splice c.e5+1 p.P163_splice RNF38_ENST00000377885.2_Splice_Site_p.P163_splice|RNF38_ENST00000350199.4_Splice_Site_p.P163_splice|RNF38_ENST00000353739.4_Splice_Site_p.P196_splice|RNF38_ENST00000377877.4_Splice_Site_p.P170_splice|RNF38_ENST00000491349.1_5'UTR|RNF38_ENST00000259605.6_Splice_Site_p.P246_splice NM_194328.2 NP_919309.1 Q9H0F5 RNF38_HUMAN ring finger protein 38 246 zinc ion binding breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1) 11 STAD - Stomach adenocarcinoma(86;0.228) GAGACTTACTGGAGGAGGCAC 0.483000 6 21 0 0 8.12818e-05 0 0 WDR53 348793 broad.mit.edu 37 3 196288262 196288262 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:196288262C>T ENST00000332629.5 - 3 652 c.85G>A c.(85-87)Gag>Aag p.E29K WDR53_ENST00000429115.1_Intron|WDR53_ENST00000433160.1_Intron NM_182627.1 NP_872433.1 Q7Z5U6 WDR53_HUMAN WD repeat domain 53 29 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 13 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) TCTCCGCCCTCTGCTCCAGAA 0.542000 10 8 0 0 0.000673444 0 0 CNKSR1 10256 broad.mit.edu 37 1 26510755 26510755 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:26510755C>T ENST00000531191.1 + 10 1210 c.203C>T c.(202-204)cCc>cTc p.P68L CNKSR1_ENST00000361530.6_Missense_Mutation_p.P326L|CNKSR1_ENST00000374253.5_Missense_Mutation_p.P333L Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 333 SAM. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) AACCCCAGTCCCGGACCCAGC 0.627000 20 92 0 0 0.000295444 0 0 NOL4 8715 broad.mit.edu 37 18 31523130 31523130 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:31523130G>A ENST00000261592.5 - 9 1738 c.1441C>T c.(1441-1443)Cct>Tct p.P481S NOL4_ENST00000538587.1_Missense_Mutation_p.P407S|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535384.1_Missense_Mutation_p.P196S|NOL4_ENST00000535475.1_Missense_Mutation_p.P262S|NOL4_ENST00000269185.4_Intron NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 481 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 AGGTGGGAAGGAATAGGTCGA 0.413000 17 45 0 0 0.00074312 0 0 GPRC6A 222545 broad.mit.edu 37 6 117113438 117113438 + Missense_Mutation SNP G G T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:117113438G>T ENST00000310357.3 - 6 2669 c.2648C>A c.(2647-2649)cCc>cAc p.P883H GPRC6A_ENST00000530250.1_Missense_Mutation_p.P708H|GPRC6A_ENST00000368549.3_Missense_Mutation_p.P812H NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 883 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) ACTAGAGCTGGGATTGGTCAT 0.468000 14 70 4.3838e-07 5.41918e-06 0.000151284 1 0 ARMC5 79798 broad.mit.edu 37 16 31471181 31471181 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr16:31471181C>T ENST00000457010.2 + 1 1037 c.336C>T c.(334-336)tcC>tcT p.S112S ARMC5_ENST00000563544.1_Silent_p.S112S|ARMC5_ENST00000538189.1_Silent_p.S144S|ARMC5_ENST00000408912.3_Silent_p.S207S|ARMC5_ENST00000268314.4_Silent_p.S112S NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 112 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 ccgcccccTCCGCTGTGTCGT 0.741000 6 5 0 0 3.59834e-05 0 0 SH3TC1 54436 broad.mit.edu 37 4 8221096 8221096 + Missense_Mutation SNP G G T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:8221096G>T ENST00000539824.1 + 9 1097 c.723G>T c.(721-723)caG>caT p.Q241H SH3TC1_ENST00000245105.3_Missense_Mutation_p.Q317H Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 317 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 CAGACTTCCAGGGCTCGGGGC 0.672000 12 130 1.15088e-07 1.43085e-06 0.000422831 1 0 CHST8 64377 broad.mit.edu 37 19 34263477 34263477 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:34263477G>A ENST00000262622.3 + 4 1542 c.784G>A c.(784-786)Gag>Aag p.E262K CHST8_ENST00000438847.2_Missense_Mutation_p.E262K|CHST8_ENST00000434302.1_Missense_Mutation_p.E262K NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 262 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) CGAGCCCTTCGAGAGGCTGGT 0.617000 38 42 0 0 0.000437636 0 0 SLC6A3 6531 broad.mit.edu 37 5 1441562 1441562 + Silent SNP C C T rs112801202 TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:1441562C>T ENST00000270349.9 - 3 457 c.330G>A c.(328-330)ggG>ggA p.G110G SLC6A3_ENST00000453492.2_Silent_p.G110G NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 110 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) AAAGTGGCATCCCAGCAATGA 0.577000 4 31 0 0 0.000602214 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502118 140502118 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:140502118C>T ENST00000194152.1 + 1 538 c.538C>T c.(538-540)Ctc>Ttc p.L180F NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 180 Cadherin 2. 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) TTTTCACATTCTCACTCGAAA 0.473000 12 17 0 0 6.40141e-05 0 0 OR10J3 441911 broad.mit.edu 37 1 159283708 159283708 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:159283708C>T ENST00000332217.5 - 1 741 c.742G>A c.(742-744)Gtg>Atg p.V248M NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) ATGATGACCACTGTGAGGTGG 0.517000 17 62 0 0 0.00074312 0 0 CXXC11 285093 broad.mit.edu 37 2 242814328 242814328 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:242814328C>T ENST00000343216.3 + 2 649 c.621C>T c.(619-621)tcC>tcT p.S207S NM_173821.2 NP_776182.2 Q14D33 CB085_HUMAN CXXC finger protein 11 207 integral to membrane TCCCCTTCTCCCTTGTGGGTA 0.682000 8 27 0 0 0.000673444 0 0 WNT3A 89780 broad.mit.edu 37 1 228238595 228238595 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:228238595C>T ENST00000284523.1 + 3 630 c.552C>T c.(550-552)aaC>aaT p.N184N WNT3A_ENST00000366753.2_Silent_p.N184N NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 184 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) CAGCCATGAACCGCCACAACA 0.647000 11 18 0 0 0.000673444 0 0 DNAH11 8701 broad.mit.edu 37 7 21781669 21781669 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:21781669C>T ENST00000328843.6 + 50 8091 c.8060C>T c.(8059-8061)cCc>cTc p.P2687L DNAH11_ENST00000409508.3_Missense_Mutation_p.P2680L Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2687 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AGGAGTGGCCCCACTTTGATC 0.393000 Kartagener syndrome 22 201 0 0 0.000295444 0 0 USH2A 7399 broad.mit.edu 37 1 216465577 216465577 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:216465577G>A ENST00000366943.2 - 10 2166 c.1780C>T c.(1780-1782)Cct>Tct p.P594S USH2A_ENST00000307340.3_Missense_Mutation_p.P594S|USH2A_ENST00000366942.3_Missense_Mutation_p.P594S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 594 Laminin EGF-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGCTCAAAAGGAAATGGGTCT 0.433000 HNSCC(13;0.011) 5 95 0 0 8.12818e-05 0 0 TBC1D9 23158 broad.mit.edu 37 4 141598154 141598154 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:141598154G>A ENST00000442267.2 - 6 1027 c.953C>T c.(952-954)cCa>cTa p.P318L NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 318 GRAM 2. intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TTTGTTAAATGGAGTCCAGAG 0.453000 60 84 0 0 0.000781405 0 0 NID1 4811 broad.mit.edu 37 1 236143949 236143949 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:236143949G>A ENST00000264187.6 - 17 3314 c.3232C>T c.(3232-3234)Ctt>Ttt p.L1078F NID1_ENST00000366595.3_Missense_Mutation_p.L945F NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 1078 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GTCCAGTAAAGGTTCCTGGAG 0.438000 25 29 0 0 0.000227799 0 0 RNF126 55658 broad.mit.edu 37 19 651671 651671 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:651671C>T ENST00000292363.5 - 4 538 c.383G>A c.(382-384)cGc>cAc p.R128H NM_194460.2 NP_919442.1 Q9BV68 RN126_HUMAN ring finger protein 126 128 protein binding|zinc ion binding lung(1) 1 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAGGCGGGCGCGGGGCTGTCG 0.781000 6 5 0 0 3.59834e-05 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65810581 65810581 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:65810581C>T ENST00000312006.4 - 3 974 c.693G>A c.(691-693)gtG>gtA p.V231V GAL3ST3_ENST00000527878.1_Silent_p.V231V NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 231 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 AAACCTCCTCCACCTGGCGGA 0.662000 11 55 0 0 0.000219431 0 0 SLC27A6 28965 broad.mit.edu 37 5 128302185 128302185 + Missense_Mutation SNP G G A rs142676290 byFrequency TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:128302185G>A ENST00000262462.4 + 1 1365 c.355G>A c.(355-357)Gtt>Att p.V119I SLC27A6_ENST00000506176.1_Missense_Mutation_p.V119I|SLC27A6_ENST00000395266.1_Missense_Mutation_p.V119I Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 119 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) GCCGGACTTCGTTCACGTGTG 0.572000 12 12 0 0 0.000219431 0 0 ZNF142 7701 broad.mit.edu 37 2 219507131 219507131 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:219507131C>T ENST00000411696.2 - 7 4887 c.4108G>A c.(4108-4110)Gat>Aat p.D1370N ZNF142_ENST00000449707.1_Missense_Mutation_p.D1370N P52746 ZN142_HUMAN zinc finger protein 142 1370 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CGGTGCTCATCCAGAGCCAGT 0.637000 21 37 0 0 0.000295444 0 0 CMTR1 23070 broad.mit.edu 37 6 37411865 37411865 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:37411865C>T ENST00000373451.4 + 3 388 c.224C>T c.(223-225)tCt>tTt p.S75F NM_015050.2 NP_055865.1 Q8N1G2 MTR1_HUMAN 75 mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2) 31 AAAGCAGACTCTCTTGTGGAA 0.468000 353 80 0 0 0.000781405 0 0 NKX2-2 4821 broad.mit.edu 37 20 21493043 21493043 + Missense_Mutation SNP T T C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:21493043T>C ENST00000377142.4 - 2 696 c.340A>G c.(340-342)Aat>Gat p.N114D NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 114 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 TCCTTGTCATTGTCCGGTGAC 0.697000 13 19 0 0 0.000151284 0 0 RBM11 54033 broad.mit.edu 37 21 15599222 15599222 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr21:15599222G>A ENST00000400577.3 + 5 463 c.454G>A c.(454-456)Gtg>Atg p.V152M RBM11_ENST00000468643.1_3'UTR NM_144770.3 NP_658983.3 P57052 RBM11_HUMAN RNA binding motif protein 11 152 nucleotide binding|RNA binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) GTATAATCCAGTGCTGCAGCT 0.393000 37 98 0 0 0.000319135 0 0 PTBP3 9991 broad.mit.edu 37 9 115013260 115013260 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr9:115013260G>A ENST00000334318.6 - 8 1030 c.844C>T c.(844-846)Cct>Tct p.P282S PTBP3_ENST00000374255.2_Missense_Mutation_p.P279S|PTBP3_ENST00000458258.1_Missense_Mutation_p.P285S|PTBP3_ENST00000374257.1_Missense_Mutation_p.P251S|PTBP3_ENST00000343327.2_Missense_Mutation_p.P184S NM_001163790.2|NM_005156.6 NP_001157262.1|NP_005147.3 O95758 ROD1_HUMAN polypyrimidine tract binding protein 3 279 anatomical structure morphogenesis|mRNA processing nucleus nucleotide binding|RNA binding TCACCAGTAGGAAGGTCTAAG 0.448000 10 117 0 0 0.000442599 0 0 TM9SF2 9375 broad.mit.edu 37 13 100204470 100204470 + Missense_Mutation SNP G G C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr13:100204470G>C ENST00000376387.4 + 13 1568 c.1378G>C c.(1378-1380)Gga>Cga p.G460R NM_004800.1 NP_004791.1 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 460 transport endosome membrane|integral to plasma membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) CTGGGGAGAAGGATCTTCAGC 0.418000 25 68 0 0 0.000720815 0 0 PTCD2 79810 broad.mit.edu 37 5 71622533 71622533 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:71622533G>A ENST00000380639.5 + 3 331 c.315G>A c.(313-315)cgG>cgA p.R105R PTCD2_ENST00000536805.1_5'UTR|PTCD2_ENST00000503868.1_Intron|PTCD2_ENST00000543322.1_Silent_p.R105R NM_024754.3 NP_079030.3 Q8WV60 PTCD2_HUMAN pentatricopeptide repeat domain 2 105 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1) 11 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.73e-53) GTGAGTCTCGGGACCATGTGG 0.413000 44 54 0 0 0.000781405 0 0 IQCH 64799 broad.mit.edu 37 15 67664977 67664977 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr15:67664977G>A ENST00000335894.4 + 9 1348 c.1282G>A c.(1282-1284)Gag>Aag p.E428K IQCH_ENST00000360277.4_Missense_Mutation_p.E180K|IQCH_ENST00000546225.1_Missense_Mutation_p.E176K|IQCH_ENST00000358767.3_Missense_Mutation_p.E255K NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 428 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) GAGACACCTGGAGAATTTTCG 0.453000 19 92 0 0 0.000295444 0 0 FBXL5 26234 broad.mit.edu 37 4 15627133 15627133 + Missense_Mutation SNP C C A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:15627133C>A ENST00000341285.3 - 9 1716 c.1592G>T c.(1591-1593)aGt>aTt p.S531I FBXL5_ENST00000412094.2_Missense_Mutation_p.S514I|FBXL5_ENST00000382358.4_Missense_Mutation_p.S405I NM_001193534.1|NM_001193535.1|NM_012161.3 NP_001180463.1|NP_001180464.1|NP_036293.1 Q9UKA1 FBXL5_HUMAN F-box and leucine-rich repeat protein 5 531 iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|SCF ubiquitin ligase complex iron ion binding|protein binding|ubiquitin-protein ligase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 CCAACAGACACTAGTCCTTAG 0.413000 20 29 2.4624e-09 3.09691e-08 0.000132079 1 0 ASXL1 171023 broad.mit.edu 37 20 31024546 31024546 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:31024546C>T ENST00000375687.4 + 13 4455 c.4031C>T c.(4030-4032)tCc>tTc p.S1344F ASXL1_ENST00000306058.5_Missense_Mutation_p.S1339F NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 1344 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 AGCACAAACTCCATGTCTGGT 0.572000 """F, N, Mis""" """MDS, CMML""" 12 68 0 0 0.000151284 0 0 IGSF21 84966 broad.mit.edu 37 1 18691797 18691797 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:18691797G>A ENST00000251296.1 + 6 1004 c.621G>A c.(619-621)caG>caA p.Q207Q NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 207 extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) GCCCCCTACAGGACAGCAGGC 0.607000 16 39 0 0 0.00074312 0 0 KMT2D 8085 broad.mit.edu 37 12 49420526 49420526 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:49420526C>T ENST00000301067.7 - 48 15222 c.15223G>A c.(15223-15225)Ggg>Agg p.G5075R NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.G5075R(1)|p.G4805R(1) ATCAGTGCCCCGCCCTGGGTC 0.627000 16 9 0 0 0.000422831 0 0 CCDC158 339965 broad.mit.edu 37 4 77300459 77300459 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:77300459C>T ENST00000388914.3 - 8 1165 c.1013G>A c.(1012-1014)aGg>aAg p.R338K CCDC158_ENST00000434846.2_Missense_Mutation_p.R338K NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 338 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 TTCATACATCCTTTTGGCTTC 0.353000 53 67 0 0 0.000781405 0 0 MC3R 4159 broad.mit.edu 37 20 54824661 54824661 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:54824661C>T ENST00000243911.2 + 1 874 c.762C>T c.(760-762)tgC>tgT p.C254C NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 291 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) TCATCTTCTGCTGGGCCCCCT 0.597000 31 38 0 0 0.000227799 0 0 C1orf168 199920 broad.mit.edu 37 1 57185941 57185941 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:57185941C>T ENST00000343433.6 - 18 2116 c.2036G>A c.(2035-2037)gGa>gAa p.G679E NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 679 p.G679V(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 ATCAAATATTCCATTTCTTGA 0.348000 22 63 0 0 0.00047179 0 0 STMN2 11075 broad.mit.edu 37 8 80553695 80553695 + Missense_Mutation SNP A A T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:80553695A>T ENST00000220876.7 + 3 580 c.198A>T c.(196-198)gaA>gaT p.E66D STMN2_ENST00000518111.1_Missense_Mutation_p.E66D|STMN2_ENST00000518491.1_Missense_Mutation_p.E55D NM_001199214.1|NM_007029.3 NP_001186143.1|NP_008960.2 Q93045 STMN2_HUMAN stathmin-like 2 66 Regulatory/phosphorylation domain (Potential). intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 all_lung(9;8.34e-05) Epithelial(68;0.0229)|all cancers(69;0.0874) CTATCTCAGAAGCCCCACGAA 0.453000 20 48 0 0 0.000175454 0 0 OR10J3 441911 broad.mit.edu 37 1 159283707 159283707 + Missense_Mutation SNP A A T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:159283707A>T ENST00000332217.5 - 1 742 c.743T>A c.(742-744)gTg>gAg p.V248E NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) GATGATGACCACTGTGAGGTG 0.512000 17 62 0 0 0.00074312 0 0 TBCK 93627 broad.mit.edu 37 4 107157662 107157662 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:107157662G>A ENST00000273980.4 - 15 1682 c.1235C>T c.(1234-1236)cCt>cTt p.P412L TBCK_ENST00000394708.2_Missense_Mutation_p.P412L|TBCK_ENST00000432496.2_Missense_Mutation_p.P412L|TBCK_ENST00000361687.4_Missense_Mutation_p.P349L|TBCK_ENST00000394706.3_Missense_Mutation_p.P373L Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase 412 intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 GTTTGAATGAGGTAAATTAGA 0.338000 36 39 0 0 0.000814825 0 0 KYNU 8942 broad.mit.edu 37 2 143713800 143713800 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:143713800G>A ENST00000264170.4 + 6 722 c.464G>A c.(463-465)cGa>cAa p.R155Q KYNU_ENST00000375773.2_Missense_Mutation_p.R155Q|KYNU_ENST00000409512.1_Missense_Mutation_p.R155Q NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 155 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) ACGCCAAAACGATATAAAATT 0.308000 16 66 0 0 0.000422831 0 0 KCNJ6 3763 broad.mit.edu 37 21 39087253 39087253 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr21:39087253G>A ENST00000400482.3 - 3 796 c.207C>T c.(205-207)aaC>aaT p.N69N KCNJ6_ENST00000288309.6_Silent_p.N69N NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 69 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) TCTCCCTCACGTTGCCGTGAT 0.478000 33 67 0 0 0.000814825 0 0 PKD1L1 168507 broad.mit.edu 37 7 47968864 47968864 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:47968864C>T ENST00000289672.2 - 7 1047 c.997G>A c.(997-999)Gaa>Aaa p.E333K NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 333 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AGCCTCATTTCAACCCCAGAA 0.522000 98 112 0 0 0.000781405 0 0 PLS3 5358 broad.mit.edu 37 X 114863527 114863527 + Missense_Mutation SNP A A C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chrX:114863527A>C ENST00000420625.2 + 4 389 c.255A>C c.(253-255)aaA>aaC p.K85N PLS3_ENST00000289290.3_Missense_Mutation_p.K40N|PLS3_ENST00000539310.1_Missense_Mutation_p.K40N|PLS3_ENST00000537301.1_Missense_Mutation_p.K63N|PLS3_ENST00000355899.3_Missense_Mutation_p.K85N NM_001136025.3|NM_001172335.1 NP_001129497.1|NP_001165806.1 P13797 PLST_HUMAN plastin 3 85 EF-hand 2. cytoplasm actin binding|calcium ion binding NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11) 26 AAGAGGTAAAAAGTAGTGATA 0.333000 9 8 0 0 0.000274275 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835087 12835087 + Missense_Mutation SNP C C A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:12835087C>A ENST00000357726.4 + 1 104 c.77C>A c.(76-78)cCc>cAc p.P26H NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 26 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTGGCCATCCCCACCCTGGAG 0.592000 37 26 6.53348e-20 8.24092e-19 0.000692331 1 0 GRIN3A 116443 broad.mit.edu 37 9 104432571 104432571 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr9:104432571C>T ENST00000361820.3 - 3 2723 c.2123G>A c.(2122-2124)cGa>cAa p.R708Q NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 708 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) ACTTCTATTTCGCCCCTTGGG 0.463000 11 109 0 0 0.000151284 0 0 KIAA1033 23325 broad.mit.edu 37 12 105550525 105550525 + Missense_Mutation SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:105550525G>A ENST00000332180.5 + 27 2867 c.2780G>A c.(2779-2781)cGa>cAa p.R927Q NM_015275.1 NP_056090.1 Q2M389 WAHS7_HUMAN KIAA1033 927 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 GGCTATGTACGAATGATAAGA 0.313000 15 91 0 0 0.000132079 0 0 KRT84 3890 broad.mit.edu 37 12 52775309 52775309 + Splice_Site SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:52775309C>T ENST00000257951.3 - 5 979 c.912_splice c.e5-1 p.E305_splice RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 305 Coil 1B.|Rod. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) AACTGGATTTCCTGTGTTGGA 0.542000 61 86 0 0 0.000781405 0 0 CHD1 1105 broad.mit.edu 37 5 98230355 98230355 + Missense_Mutation SNP T T A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:98230355T>A ENST00000284049.3 - 12 1895 c.1746A>T c.(1744-1746)aaA>aaT p.K582N NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 582 Helicase ATP-binding. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) ATTTTAACCGTTTGGTCTGAT 0.259000 5 8 0 0 8.12818e-05 0 0 UGT2B10 7365 broad.mit.edu 37 4 69681886 69681886 + Missense_Mutation SNP A A C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:69681886A>C ENST00000265403.7 + 1 176 c.149A>C c.(148-150)cAt>cCt p.H50P UGT2B10_ENST00000458688.2_Missense_Mutation_p.H50P NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 50 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 CAGAGAGGTCATGAGGTGACT 0.418000 92 117 0 0 0.000781405 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 3 4 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49114419 49114426 + Frame_Shift_Del DEL AAGGAGAT AAGGAGAT - TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:49114419_49114426delAAGGAGAT ENST00000395443.2 - 2 497_504 c.25_32delATCTCCTT c.(25-33)tfs p.ISF9fs QRICH1_ENST00000357496.2_Frame_Shift_Del_p.ISF9fs|QRICH1_ENST00000424300.1_Frame_Shift_Del_p.ISF9fs NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 9 CARD. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GTACTCTTCAAAGGAGATGGTGTTCTCT 0.452 10 103 --- --- --- --- KMT2E 55904 broad.mit.edu 37 7 104715133 104715133 + Frame_Shift_Del DEL G G - TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:104715133delG ENST00000334877.4 + 8 1134 c.600delG c.(598-600)gtfs p.V200fs KMT2E_ENST00000257745.4_Frame_Shift_Del_p.V200fs|KMT2E_ENST00000476671.1_Frame_Shift_Del_p.V200fs|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000311117.3_Frame_Shift_Del_p.V200fs lysine (K)-specific methyltransferase 2E AGGTTCCTGTGGAATTATATA 0.328 44 171 --- --- --- --- CLEC4A 50856 broad.mit.edu 37 12 8281937 8281937 + Frame_Shift_Del DEL A A - TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:8281937delA ENST00000229332.5 + 3 524 c.277delA c.(277-279)aafs p.K94fs CLEC4A_ENST00000352620.3_Intron|CLEC4A_ENST00000345999.3_Intron|CLEC4A_ENST00000360500.3_Frame_Shift_Del_p.K55fs NM_016184.3|NM_194447.2|NM_194450.2 NP_057268.1|NP_919429.2|NP_919432.1 Q9UMR7 CLC4A_HUMAN C-type lectin domain family 4, member A 94 cell adhesion|cell surface receptor linked signaling pathway|innate immune response integral to plasma membrane sugar binding|transmembrane receptor activity cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1) 11 Kidney(36;0.0915) GGAGTGTGTGAAAAAAAATAT 0.333 8 218 --- --- --- --- TRAV24 28659 broad.mit.edu 37 14 22573825 22573826 + RNA INS - - A rs33991650 by1000genomes TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr14:22573825_22573826insA ENST00000390453.1 + 0 55 GACTCTTTTTTAAAAAAACAGG 0.450 7 7 --- --- --- --- ROCK1P1 727758 broad.mit.edu 37 18 112402 112405 + RNA DEL AACC AACC - rs113232824 TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:112402_112405delAACC ENST00000576266.1 + 0 36_39 CCCTGCCCCGAACCACCCGACCCC 0.711 3 3 --- --- --- ---