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 SNHG14 104472715 broad.mit.edu 37 15 25453259 25453259 + RNA SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr15:25453259G>C ENST00000424208.1 + 0 2384 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-21_ENST00000362963.1_RNA NR_003305.1 TATATTTTCTGAAGAGAGGTG 0.532000 33 159 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76753891 76753891 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr18:76753891C>A ENST00000536229.3 + 1 2210 c.1501C>A c.(1501-1503)Ccc>Acc p.P501T SALL3_ENST00000537592.2_Missense_Mutation_p.P634T|SALL3_ENST00000575389.2_Missense_Mutation_p.P634T Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 634 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCTCGGCAGCCCCGGGCTGCC 0.701000 7 7 1.26484e-09 1.82677e-09 1 1 0 RP11-407N17.3 0 broad.mit.edu 37 14 39709792 39709792 + Nonsense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:39709792A>T ENST00000553728.1 + 3 490 c.277A>T c.(277-279)Aga>Tga p.R93* MIA2_ENST00000280082.3_Nonsense_Mutation_p.R93*|MIA2_ENST00000556784.1_Nonsense_Mutation_p.R92* ATATTTTCCCAGAGATGCAGT 0.318000 6 30 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2361622 2361622 + Splice_Site SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr20:2361622G>T ENST00000202625.2 + 1 68 c.e1+1 TGM6_ENST00000381423.1_Splice_Site NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) CACATGGCAGGTAAGTGGGCA 0.582000 4 8 0.00909568 0.00974 1 1 0 MYH7 4625 broad.mit.edu 37 14 23901022 23901022 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:23901022G>T ENST00000355349.3 - 7 749 c.587C>A c.(586-588)gCt>gAt p.A196D NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 196 Myosin head-like. A -> T (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGCAATAACAGCAAAGTACTG 0.562000 24 57 0.00395357 0.00434654 1 1 0 AMPD1 270 broad.mit.edu 37 1 115229485 115229485 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:115229485G>T ENST00000369538.3 - 3 396 c.349C>A c.(349-351)Cta>Ata p.L117I AMPD1_ENST00000520113.2_Missense_Mutation_p.L121I|AMPD1_ENST00000353928.6_Missense_Mutation_p.L88I NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 88 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) GTTTCACTTAGTGGAATGGAC 0.398000 6 48 3.59834e-05 4.32277e-05 1 1 0 EXOC8 149371 broad.mit.edu 37 1 231473128 231473128 + Nonsense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:231473128C>A ENST00000366645.1 - 1 470 c.352G>T c.(352-354)Gag>Tag p.E118* SPRTN_ENST00000391858.4_5'UTR|EXOC8_ENST00000360394.2_Nonsense_Mutation_p.E122* Q8IYI6 EXOC8_HUMAN exocyst complex component 8 122 exocytosis|protein transport growth cone|nucleus protein binding cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1) 14 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) CCGACTCCCTCCTCCCCTCCA 0.721000 6 47 0.00116845 0.00130515 1 1 0 OAS1 4938 broad.mit.edu 37 12 113348990 113348990 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:113348990C>T ENST00000452357.2 + 3 794 c.604C>T c.(604-606)Ccc>Tcc p.P202S OAS1_ENST00000551241.1_Missense_Mutation_p.P202S|OAS1_ENST00000445409.2_Missense_Mutation_p.P202S|OAS1_ENST00000202917.5_Missense_Mutation_p.P202S|RP1-71H24.1_ENST00000552784.1_RNA NM_002534.2 NP_002525.2 P00973 OAS1_HUMAN 2'-5'-oligoadenylate synthetase 1, 40/46kDa 202 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1) 16 GAAGCAGCGCCCCACCAAGCT 0.562000 11 46 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23521211 23521211 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:23521211G>T ENST00000296682.3 + 6 613 c.431G>T c.(430-432)gGc>gTc p.G144V NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 144 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AATGCAAGTGGCTCAGAGCAG 0.428000 HNSCC(3;0.000094) 6 94 0.00116845 0.00130515 1 1 0 C3orf58 205428 broad.mit.edu 37 3 143704451 143704451 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:143704451G>T ENST00000315691.3 + 2 1259 c.724G>T c.(724-726)Gta>Tta p.V242L C3orf58_ENST00000495414.1_Missense_Mutation_p.V33L|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.V4L NM_173552.3 NP_775823.1 Q8NDZ4 CC058_HUMAN chromosome 3 open reading frame 58 242 COPI vesicle coat|extracellular region breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AATGGTGGCTGTAAATTATGT 0.388000 12 55 3.07112e-06 3.89037e-06 1 1 0 PCDH17 27253 broad.mit.edu 37 13 58299346 58299346 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:58299346T>A ENST00000377918.3 + 4 3424 c.3398T>A c.(3397-3399)gTg>gAg p.V1133E NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1133 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) AGAGAGTCTGTGGATGCAGAG 0.488000 20 114 0 0 1 0 0 OR51A7 119687 broad.mit.edu 37 11 4928672 4928672 + Missense_Mutation SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:4928672A>G ENST00000359350.4 + 1 73 c.73A>G c.(73-75)Att>Gtt p.I25V MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) ACATGCCCACATTTGGTTCTC 0.478000 12 45 0 0 1 0 0 WDR64 128025 broad.mit.edu 37 1 241907701 241907701 + Nonsense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:241907701G>T ENST00000366552.2 + 12 1654 c.1447G>T c.(1447-1449)Gaa>Taa p.E483* WDR64_ENST00000437684.2_Nonsense_Mutation_p.E483* NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 483 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) ATAGGTATGGGAACTCGAGAC 0.393000 32 32 9.8876e-21 1.79361e-20 1 1 0 VAV2 7410 broad.mit.edu 37 9 136654437 136654437 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:136654437G>C ENST00000371851.1 - 13 1527 c.1202C>G c.(1201-1203)cCa>cGa p.P401R VAV2_ENST00000371850.3_Missense_Mutation_p.P406R|VAV2_ENST00000406606.3_Missense_Mutation_p.P401R P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor 406 angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) GTCAATCTTTGGTCTTCCAAA 0.622000 18 130 0 0 1 0 0 FAM153B 202134 broad.mit.edu 37 5 175530295 175530295 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:175530295G>T ENST00000253490.4 + 13 787 c.730G>T c.(730-732)Gtg>Ttg p.V244L FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Missense_Mutation_p.V167L|FAM153B_ENST00000510151.1_Missense_Mutation_p.V167L P0C7A2 F153B_HUMAN family with sequence similarity 153, member B 244 endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 16 all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Kidney(146;0.0965) CCCAGAGGAGGTGAAGGTCAG 0.433000 9 161 5.50884e-06 6.88225e-06 1 1 0 LARP4B 23185 broad.mit.edu 37 10 875465 875465 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:875465C>A ENST00000316157.3 - 10 1025 c.985G>T c.(985-987)Gtg>Ttg p.V329L NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 329 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 TACAGGCTCACGTCCAGGGGT 0.483000 5 59 0.014758 0.0155645 1 1 0 RASL10A 10633 broad.mit.edu 37 22 29709882 29709882 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr22:29709882T>A ENST00000401450.3 - 2 759 c.314A>T c.(313-315)aAg>aTg p.K105M RASL10A_ENST00000474590.1_5'UTR|RASL10A_ENST00000216101.6_Missense_Mutation_p.K105M Q92737 RSLAA_HUMAN RAS-like, family 10, member A 105 Small GTPase-like. small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity NS(1) 1 CCGCAGGGCCTTCACGTAGTC 0.652000 13 34 0 0 1 0 0 STAM 8027 broad.mit.edu 37 10 17702528 17702528 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:17702528G>T ENST00000377524.3 + 2 321 c.106G>T c.(106-108)Gtt>Ttt p.V36F STAM_ENST00000540523.1_5'UTR NM_003473.3 NP_003464.1 Q92783 STAM1_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 36 VHS. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 26 CTGTGATAAAGTTGGTCAGTC 0.413000 26 30 5.45024e-15 9.05379e-15 1 1 0 NXPH1 30010 broad.mit.edu 37 7 8790693 8790693 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:8790693G>T ENST00000405863.1 + 3 1021 c.110G>T c.(109-111)aGc>aTc p.S37I NXPH1_ENST00000602349.1_5'UTR|NXPH1_ENST00000497400.1_3'UTR NM_152745.2 NP_689958.1 P58417 NXPH1_HUMAN neurexophilin 1 37 II. extracellular region breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1) 17 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) AAATCAGGAAGCAGCAAATCC 0.423000 24 38 2.79863e-10 4.16808e-10 1 1 0 ZNF835 90485 broad.mit.edu 37 19 57175054 57175054 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:57175054G>T ENST00000537055.2 - 2 1744 c.1513C>A c.(1513-1515)Cca>Aca p.P505T NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 GTGGGAGCTGGGCAAAGGCGT 0.622000 31 147 7.01153e-11 1.05289e-10 1 1 0 LRP2 4036 broad.mit.edu 37 2 170044637 170044637 + Missense_Mutation SNP A A C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:170044637A>C ENST00000263816.3 - 49 9456 c.9171T>G c.(9169-9171)tgT>tgG p.C3057W NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3057 LDL-receptor class A 24. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ATCCGTCTCCACAGTCATTAT 0.517000 41 70 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48915056 48915056 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:48915056G>T ENST00000294954.7 - 11 1901 c.1880C>A c.(1879-1881)aCt>aAt p.T627N LHCGR_ENST00000405626.1_Missense_Mutation_p.T600N|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.T565N|STON1-GTF2A1L_ENST00000402114.2_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 627 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) GAATGTCTTAGTGAATATTGC 0.358000 26 49 1.85244e-09 2.6501e-09 1 1 0 IGHG1 3500 broad.mit.edu 37 14 106203921 106203921 + RNA SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:106203921G>T ENST00000390548.2 - 0 1377 GCTATGCACAGGGTCTGGAAG 0.667000 3 2 0.004672 0.00506878 1 1 0 IL4I1 259307 broad.mit.edu 37 19 50394674 50394674 + Silent SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:50394674C>T ENST00000595948.1 - 8 1310 c.690G>A c.(688-690)agG>agA p.R230R IL4I1_ENST00000391826.2_Silent_p.R208R|IL4I1_ENST00000341114.3_Silent_p.R230R NM_001258018.1 NP_001244947.1 Q96RQ9 OXLA_HUMAN interleukin 4 induced 1 208 lysosome L-amino-acid oxidase activity endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169) AGAGCGTGTGCCTTTCAAACT 0.567000 14 73 0 0 1 0 0 CTRC 11330 broad.mit.edu 37 1 15771157 15771157 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:15771157G>T ENST00000375949.4 + 6 576 c.550G>T c.(550-552)Gcc>Tcc p.A184S CTRC_ENST00000375943.2_Intron|CTRC_ENST00000483406.1_Intron NM_007272.2 NP_009203.2 Q99895 CTRC_HUMAN chymotrypsin C (caldecrin) 184 Peptidase S1. proteolysis serine-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1) 13 Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGTGGATCACGCCACGTGCTC 0.627000 29 33 3.73808e-20 6.6741e-20 1 1 0 AGBL1 123624 broad.mit.edu 37 15 86838559 86838559 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr15:86838559C>A ENST00000441037.2 + 16 2251 c.2156C>A c.(2155-2157)aCg>aAg p.T719K AGBL1_ENST00000421325.2_Missense_Mutation_p.T719K|AGBL1_ENST00000389298.3_Missense_Mutation_p.T450K NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 719 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding p.T719M(1) 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 CTCTGCCAGACGCTGGGAGGG 0.507000 5 29 0.014758 0.0155645 1 1 0 PHKG1 5260 broad.mit.edu 37 7 56148957 56148957 + Silent SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:56148957G>A ENST00000452681.2 - 11 1199 c.1050C>T c.(1048-1050)atC>atT p.I350I PHKG1_ENST00000297373.2_Silent_p.I318I|PHKG1_ENST00000537360.1_Silent_p.I264I NM_001258459.1 NP_001245388.1 Q16816 PHKG1_HUMAN phosphorylase kinase, gamma 1 (muscle) 318 Calmodulin-binding (domain-C). glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity endometrium(1)|large_intestine(1)|lung(5) 7 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ACTGGTAGTAGATCCGCACTG 0.682000 18 35 0 0 1 0 0 NCAM2 4685 broad.mit.edu 37 21 22841048 22841048 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr21:22841048A>T ENST00000400546.1 + 14 2089 c.1840A>T c.(1840-1842)Acc>Tcc p.T614S NCAM2_ENST00000284894.7_Missense_Mutation_p.T472S NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 614 Fibronectin type-III 2. 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) ACTCAGCATCACCAAACAGGA 0.388000 7 37 0 0 1 0 0 BMP10 27302 broad.mit.edu 37 2 69098327 69098327 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:69098327A>T ENST00000295379.1 - 1 322 c.164T>A c.(163-165)cTc>cAc p.L55H NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 55 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 CATGCTCTGGAGCAGTGTGTT 0.488000 15 47 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72997702 72997702 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr18:72997702G>T ENST00000322038.5 + 2 789 c.205G>T c.(205-207)Gca>Tca p.A69S TSHZ1_ENST00000580243.1_Missense_Mutation_p.A114S NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 114 Ser-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) GGACAGCCTGGCACAGATCAA 0.552000 7 16 0.0381472 0.0394522 1 1 0 LRRC17 10234 broad.mit.edu 37 7 102574465 102574465 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:102574465G>T ENST00000249377.4 + 2 386 c.105G>T c.(103-105)gcG>gcT p.A35A FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000339431.4_Silent_p.A35A|FBXL13_ENST00000313221.4_Intron NM_005824.2 NP_005815.2 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 35 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space p.A35A(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 ATGGCCGGGCGGGTGGAGGCC 0.552000 32 22 3.03874e-20 5.44691e-20 1 1 0 MUC16 94025 broad.mit.edu 37 19 9002608 9002608 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:9002608C>A ENST00000397910.4 - 51 40411 c.40208G>T c.(40207-40209)aGc>aTc p.S13403I MUC16_ENST00000380951.5_Missense_Mutation_p.S44I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13405 SEA 9. 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 CAGTCCAGGGCTTTTGGGGTC 0.572000 18 103 9.7654e-05 0.000115629 1 1 0 URGCP 55665 broad.mit.edu 37 7 43921536 43921536 + Nonsense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:43921536C>A ENST00000336086.6 - 2 2240 c.4G>T c.(4-6)Gaa>Taa p.E2* URGCP_ENST00000446958.1_Nonsense_Mutation_p.E36*|URGCP_ENST00000453200.1_Nonsense_Mutation_p.E45*|URGCP_ENST00000443736.1_Nonsense_Mutation_p.E2*|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Nonsense_Mutation_p.E2*|URGCP_ENST00000447717.3_Nonsense_Mutation_p.E2*|URGCP_ENST00000402306.3_Nonsense_Mutation_p.E36*|RP5-1165K10.1_ENST00000603700.1_Nonsense_Mutation_p.E36* Q8TCY9 URGCP_HUMAN upregulator of cell proliferation 45 cell cycle centrosome|nucleus GTP binding breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 tcatctccttccatttcTCTC 0.408000 96 58 2.5264e-35 4.99226e-35 1 1 0 MTNR1B 4544 broad.mit.edu 37 11 92715335 92715335 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:92715335C>A ENST00000257068.2 + 2 952 c.946C>A c.(946-948)Cgc>Agc p.R316S NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 316 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) CCAAAACTTCCGCAGGGAATA 0.542000 38 209 6.29468e-14 1.03242e-13 1 1 0 TTN 7273 broad.mit.edu 37 2 179444007 179444007 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:179444007A>T ENST00000589042.1 - 320 67974 c.67750T>A c.(67750-67752)Tgg>Agg p.W22584R TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W20016R|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W20943R|TTN_ENST00000460472.2_Missense_Mutation_p.W13519R|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W13644R|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W13711R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20943 Fibronectin type-III 64. P -> L. 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) CCTTTCTTCCAGGAGACTGAT 0.443000 24 38 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55658737 55658737 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:55658737G>T ENST00000449290.2 + 7 1080 c.988G>T c.(988-990)Gta>Tta p.V330L TRIM51_ENST00000244891.3_Missense_Mutation_p.V187L NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 330 B30.2/SPRY. intracellular zinc ion binding ATGTTTTCTTGTATGGGGGGC 0.418000 22 57 3.08376e-08 4.21231e-08 1 1 0 DDN 23109 broad.mit.edu 37 12 49391073 49391073 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:49391073C>G ENST00000421952.2 - 2 1607 c.1586G>C c.(1585-1587)gGc>gCc p.G529A NM_015086.1 NP_055901.2 O94850 DEND_HUMAN dendrin 529 Interaction with CD2AP and NPHS1 (By similarity). dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 CTCAGCTTcgcccccgcggcc 0.692000 10 22 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10417306 10417306 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:10417306C>A ENST00000397077.1 - 10 1664 c.1089G>T c.(1087-1089)acG>acT p.T363T ATP2B2_ENST00000383800.4_Silent_p.T363T|ATP2B2_ENST00000360273.2_Silent_p.T408T|ATP2B2_ENST00000343816.4_Silent_p.T394T|ATP2B2_ENST00000352432.4_Silent_p.T408T Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 408 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 GGATGATCACCGTGATGGCTG 0.562000 19 19 1.00905e-13 1.6431e-13 1 1 0 CCDC138 165055 broad.mit.edu 37 2 109463246 109463246 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:109463246G>T ENST00000295124.4 + 12 1436 c.1376G>T c.(1375-1377)gGa>gTa p.G459V CCDC138_ENST00000412964.2_Missense_Mutation_p.G459V NM_144978.1 NP_659415.1 Q96M89 CC138_HUMAN coiled-coil domain containing 138 459 endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 14 ATTTTTAAAGGAGTGGTAACT 0.348000 9 40 5.4927e-09 7.72385e-09 1 1 0 MYLK 4638 broad.mit.edu 37 3 123418892 123418892 + Silent SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:123418892G>A ENST00000360772.3 - 19 3801 c.3423C>T c.(3421-3423)acC>acT p.T1141T MYLK_ENST00000475616.1_Silent_p.T1141T|MYLK_ENST00000360304.3_Silent_p.T1141T|MYLK_ENST00000359169.1_Silent_p.T1141T|MYLK_ENST00000346322.5_Silent_p.T1072T Q15746 MYLK_HUMAN myosin light chain kinase 1141 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGATGAACTTGGTGGTCTTGA 0.577000 12 91 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43604161 43604161 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr22:43604161C>A ENST00000360835.3 - 20 2777 c.2651G>T c.(2650-2652)cGc>cTc p.R884L NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 884 CUB. adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity p.R884H(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) CTTGCGGGAGCGGGAGGTGAA 0.562000 50 79 2.24722e-20 4.0361e-20 1 1 0 ZNF804A 91752 broad.mit.edu 37 2 185803529 185803529 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:185803529C>A ENST00000302277.6 + 4 4000 c.3406C>A c.(3406-3408)Cca>Aca p.P1136T NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1136 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TTCCCAAATCCCAGCTCTCAC 0.542000 14 109 1.05317e-09 1.53327e-09 1 1 0 AHNAK2 113146 broad.mit.edu 37 14 105407964 105407964 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:105407964C>A ENST00000333244.5 - 7 13943 c.13824G>T c.(13822-13824)gcG>gcT p.A4608A AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4608 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCTCAAGCCGCGCACCATCCA 0.587000 32 112 5.60225e-13 8.97746e-13 1 1 0 FBXO46 23403 broad.mit.edu 37 19 46215705 46215705 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:46215705G>A ENST00000317683.3 - 2 1182 c.1049C>T c.(1048-1050)gCg>gTg p.A350V NM_001080469.1 NP_001073938.1 Q6PJ61 FBX46_HUMAN F-box protein 46 350 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) CGGAGGGGGCGCCGGGGGAGT 0.692000 6 28 0 0 1 0 0 OPN5 221391 broad.mit.edu 37 6 47754333 47754333 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:47754333G>T ENST00000489301.2 + 2 298 c.213G>T c.(211-213)atG>atT p.M71I OPN5_ENST00000371211.2_Missense_Mutation_p.M71I|OPN5_ENST00000393699.2_Missense_Mutation_p.M71I Q6U736 OPN5_HUMAN opsin 5 71 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 CTGAAATAATGACTATCAATT 0.388000 24 23 2.79863e-10 4.16808e-10 1 1 0 RFWD2 64326 broad.mit.edu 37 1 176050385 176050385 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:176050385C>T ENST00000367669.3 - 11 1694 c.1180G>A c.(1180-1182)Gaa>Aaa p.E394K RFWD2_ENST00000308769.8_Missense_Mutation_p.E370K NM_022457.5 NP_071902.2 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2, E3 ubiquitin protein ligase 394 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GACAAGCATTCCTGAAATTCA 0.348000 7 62 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 391063 391063 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:391063G>T ENST00000256509.2 + 10 1512 c.870G>T c.(868-870)tgG>tgT p.W290C CHL1_ENST00000397491.2_Missense_Mutation_p.W274C NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 274 Ig-like C2-type 3. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) AGGTTGATTGGAACAAAATTG 0.343000 9 20 5.4927e-09 7.72385e-09 1 1 0 POSTN 10631 broad.mit.edu 37 13 38145519 38145519 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:38145519T>A ENST00000379747.4 - 18 2283 c.2166A>T c.(2164-2166)gaA>gaT p.E722D POSTN_ENST00000379749.4_Missense_Mutation_p.E722D|POSTN_ENST00000379742.4_Intron|POSTN_ENST00000541179.1_Missense_Mutation_p.E695D|POSTN_ENST00000379743.4_Missense_Mutation_p.E695D|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000497145.1_5'UTR NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 722 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CATGGATCACTTCAGTTATTG 0.383000 10 28 0 0 1 0 0 MEP1B 4225 broad.mit.edu 37 18 29770053 29770053 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr18:29770053C>A ENST00000269202.6 + 1 67 c.20C>A c.(19-21)tCt>tAt p.S7Y MEP1B_ENST00000581447.1_Missense_Mutation_p.S7Y NM_005925.2 NP_005916.2 Q16820 MEP1B_HUMAN meprin A, beta 7 digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 TGGAATCTGTCTTGGTTTCTG 0.333000 6 9 3.59834e-05 4.32277e-05 1 1 0 IFNA17 3451 broad.mit.edu 37 9 21228138 21228138 + Missense_Mutation SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:21228138A>G ENST00000413767.2 - 1 83 c.35T>C c.(34-36)cTg>cCg p.L12P NM_021268.2 NP_067091.1 P01571 IFN17_HUMAN interferon, alpha 17 12 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1) 9 Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) GCTGAGCACCAGCACGGCCAT 0.498000 10 39 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31809650 31809650 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:31809650C>A ENST00000446923.2 + 7 1730 c.1339C>A c.(1339-1341)Cct>Act p.P447T ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.P464T|ZEB1_ENST00000320985.10_Missense_Mutation_p.P463T|ZEB1_ENST00000542815.3_Missense_Mutation_p.P396T|ZEB1_ENST00000560721.2_Missense_Mutation_p.P443T NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 463 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) CATCAGTCTTCCTTTGGTTGA 0.373000 28 20 3.73148e-12 5.84534e-12 1 1 0 OR2W3 343171 broad.mit.edu 37 1 248059580 248059580 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:248059580C>G ENST00000537741.1 + 3 949 c.692C>G c.(691-693)gCa>gGa p.A231G OR2W3_ENST00000360358.3_Missense_Mutation_p.A231G Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 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) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ATTCGGTCAGCATCAGGAAGG 0.532000 71 199 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96708978 96708978 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:96708978A>T ENST00000260682.6 + 5 768 c.756A>T c.(754-756)caA>caT p.Q252H NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 252 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) AAGAACACCAAGAATCAATGG 0.328000 5 14 0 0 1 0 0 TMCO5A 145942 broad.mit.edu 37 15 38229078 38229078 + Silent SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr15:38229078C>T ENST00000558158.1 + 4 325 c.171C>T c.(169-171)ggC>ggT p.G57G TMCO5A_ENST00000540944.1_Silent_p.G57G|TMCO5A_ENST00000559502.1_Silent_p.G57G|TMCO5A_ENST00000319669.4_Silent_p.G57G Q8N6Q1 TMC5A_HUMAN transmembrane and coiled-coil domains 5A 57 G -> D (in Ref. 1; BAC04065). integral to membrane central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 15 AGACGCGGGGCCTGGTGGAAG 0.512000 3 28 0 0 1 0 0 GTF3C2 2976 broad.mit.edu 37 2 27564992 27564992 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:27564992C>A ENST00000359541.2 - 4 1107 c.678G>T c.(676-678)aaG>aaT p.K226N AC109828.1_ENST00000590383.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.K226N Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 226 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTGCCGGATCTTCTTCGGTT 0.567000 11 43 1.33987e-11 2.05628e-11 1 1 0 ZIM3 114026 broad.mit.edu 37 19 57646839 57646839 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:57646839C>A ENST00000269834.1 - 5 1251 c.866G>T c.(865-867)aGg>aTg p.R289M NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGAGTTCTGCCTGAAGGATTT 0.373000 8 54 0.00307968 0.00338989 1 1 0 RDH8 50700 broad.mit.edu 37 19 10131393 10131393 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:10131393T>A ENST00000591589.1 + 4 700 c.511T>A c.(511-513)Ttc>Atc p.F171I RDH8_ENST00000171214.1_Missense_Mutation_p.F151I Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 151 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) AGGTGTCATCTTCAACGATGT 0.557000 4 19 0 0 1 0 0 CSF2RA 1438 broad.mit.edu 37 X 1413267 1413267 + Silent SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:1413267G>C ENST00000381524.3 + 8 879 c.693G>C c.(691-693)acG>acC p.T231T CSF2RA_ENST00000361536.3_Silent_p.T231T|CSF2RA_ENST00000355432.3_Silent_p.T231T|CSF2RA_ENST00000417535.2_Silent_p.T231T|CSF2RA_ENST00000381500.1_Silent_p.T231T|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000501036.2_Silent_p.T98T|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381509.3_Silent_p.T231T|CSF2RA_ENST00000381529.3_Silent_p.T231T|CSF2RA_ENST00000432318.2_Silent_p.T231T P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 231 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GCAACACGACGCACTGCCTCG 0.567000 9 126 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49694656 49694656 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:49694656G>C ENST00000296452.4 + 5 7781 c.7667G>C c.(7666-7668)cGg>cCg p.R2556P NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2556 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) ATCAAGAAGCGGCACTCCATG 0.627000 6 46 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9088867 9088867 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:9088867G>A ENST00000397910.4 - 1 3151 c.2948C>T c.(2947-2949)aCc>aTc p.T983I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 983 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 TGAAACAGTGGTTGTTGCTGA 0.463000 22 139 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189940160 189940160 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:189940160G>T ENST00000374866.3 - 17 1337 c.1063C>A c.(1063-1065)Caa>Aaa p.Q355K NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 355 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GCACCTCGTTGTCCCTAATTA 0.299000 6 20 0.0381472 0.0394522 1 1 0 ADAM33 80332 broad.mit.edu 37 20 3652825 3652825 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr20:3652825G>T ENST00000356518.2 - 14 1794 c.1553C>A c.(1552-1554)gCa>gAa p.A518E ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Missense_Mutation_p.A518E|ADAM33_ENST00000350009.2_Missense_Mutation_p.A518E NM_025220.2 NP_079496.1 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 518 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 CGTGGGACATGCGCCATCCCA 0.657000 25 32 3.28513e-13 5.29238e-13 1 1 0 WNT7A 7476 broad.mit.edu 37 3 13896175 13896175 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:13896175G>T ENST00000285018.4 - 3 728 c.424C>A c.(424-426)Cac>Aac p.H142N NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 142 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 TCGTCCCGGTGGTACTGGCCT 0.637000 41 75 2.26627e-22 4.22945e-22 1 1 0 RBM41 55285 broad.mit.edu 37 X 106359173 106359173 + Silent SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:106359173G>A ENST00000372487.1 - 3 263 c.237C>T c.(235-237)gaC>gaT p.D79D RBM41_ENST00000471079.1_5'UTR|RBM41_ENST00000372479.3_Silent_p.D79D|RBM41_ENST00000203616.8_Silent_p.D79D NM_001171080.1 NP_001164551.1 Q96IZ5 RBM41_HUMAN RNA binding motif protein 41 79 nucleotide binding|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 13 CAGTTTCCTGGTCCTTCTCAT 0.453000 13 22 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103404644 103404644 + Splice_Site SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:103404644C>A ENST00000358392.2 - 44 3738 c.3420_splice c.e44-1 p.G1141_splice COL11A1_ENST00000353414.4_Splice_Site_p.G1090_splice|COL11A1_ENST00000370096.3_Splice_Site_p.G1129_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G1013_splice NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1129 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCAATTTCACCCTGAAATTGA 0.323000 25 33 4.87955e-14 8.01767e-14 1 1 0 KRBA2 124751 broad.mit.edu 37 17 8285577 8285577 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:8285577G>A ENST00000582471.1 - 2 102 c.52C>T c.(52-54)Cat>Tat p.H18Y RPL26_ENST00000585176.1_Intron|RPL26_ENST00000584164.1_Missense_Mutation_p.H18Y|RPL26_ENST00000578812.1_Missense_Mutation_p.H18Y|RPL26_ENST00000582556.1_Missense_Mutation_p.H18Y|RPL26_ENST00000583011.1_Missense_Mutation_p.H18Y|RPL26_ENST00000293842.5_Missense_Mutation_p.H18Y GCATTGAAATGCCTTTTGCGA 0.403000 5 37 0 0 1 0 0 MSRB1 51734 broad.mit.edu 37 16 1990778 1990778 + Splice_Site SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:1990778C>G ENST00000361871.3 - 3 489 c.e3+1 MSRB1_ENST00000399753.2_Splice_Site|MSRB1_ENST00000564908.1_Splice_Site NM_016332.2 NP_057416.1 Q9NZV6 MSRB1_HUMAN methionine sulfoxide reductase B1 protein repair cytoplasm|nucleus peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding L-Methionine(DB00134) AGCAAGCTCACCTTTAGGGAC 0.582000 12 26 0 0 1 0 0 DISC1 27185 broad.mit.edu 37 1 231829578 231829578 + Missense_Mutation SNP G G T rs143922209 byFrequency TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:231829578G>T ENST00000439617.2 + 2 127 c.74G>T c.(73-75)cGg>cTg p.R25L DISC1_ENST00000539444.1_Missense_Mutation_p.R25L|DISC1_ENST00000537876.1_Missense_Mutation_p.R25L|DISC1_ENST00000317586.4_Missense_Mutation_p.R25L|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000602281.1_Missense_Mutation_p.R25L|DISC1_ENST00000535983.1_Missense_Mutation_p.R25L|DISC1_ENST00000366636.4_Missense_Mutation_p.R25L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366633.3_Missense_Mutation_p.R25L|TRAX_ENST00000602962.1_3'UTR NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 25 Interaction with MAP1A. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) CCAGGCAGCCGGGATTGCTTA 0.562000 9 85 1.58986e-06 2.03673e-06 1 1 0 KIAA0430 9665 broad.mit.edu 37 16 15698083 15698083 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:15698083C>A ENST00000396368.3 - 22 4561 c.4355G>T c.(4354-4356)tGt>tTt p.C1452F KIAA0430_ENST00000547936.1_5'UTR|KIAA0430_ENST00000602337.1_Missense_Mutation_p.C1449F|KIAA0430_ENST00000551742.1_Missense_Mutation_p.C1452F|KIAA0430_ENST00000548025.1_Missense_Mutation_p.C1449F|KIAA0430_ENST00000540441.2_Missense_Mutation_p.C1287F|KIAA0430_ENST00000344181.3_Missense_Mutation_p.C1054F NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 1451 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TCCATATTCACAGGGGTTAAG 0.448000 7 51 0.0477658 0.0492313 1 1 0 SSTR1 6751 broad.mit.edu 37 14 38678882 38678882 + Nonsense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:38678882C>A ENST00000267377.2 + 3 905 c.288C>A c.(286-288)taC>taA p.Y96* NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 96 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 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;0.00444) Octreotide(DB00104) CCAACATCTACATCCTAAATC 0.562000 70 148 2.36135e-34 4.64587e-34 1 1 0 MYO18B 84700 broad.mit.edu 37 22 26165078 26165078 + Nonsense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr22:26165078C>T ENST00000335473.7 + 4 1445 c.1195C>T c.(1195-1197)Cag>Tag p.Q399* MYO18B_ENST00000407587.2_Nonsense_Mutation_p.Q399*|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.Q399* NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 399 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGGGCAACCCCAGGGTAAGTC 0.592000 5 14 0 0 1 0 0 FOXO3 2309 broad.mit.edu 37 6 108984958 108984958 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:108984958G>T ENST00000406360.1 + 2 1265 c.922G>T c.(922-924)Gac>Tac p.D308Y FOXO3_ENST00000343882.6_Missense_Mutation_p.D308Y|FOXO3_ENST00000540898.1_Missense_Mutation_p.D88Y NM_001455.3 NP_001446.1 O43524 FOXO3_HUMAN forkhead box O3 308 PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860). antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) TGCGTGGACGGACTTCCGTTC 0.607000 21 22 1.87028e-06 2.39259e-06 1 1 0 SASH1 23328 broad.mit.edu 37 6 148867155 148867155 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:148867155G>T ENST00000367467.3 + 19 3828 c.3353G>T c.(3352-3354)gGc>gTc p.G1118V NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 1118 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) TGGCAGCATGGCCGCTGTGGG 0.522000 30 47 5.77227e-19 1.01462e-18 1 1 0 KCNAB1 7881 broad.mit.edu 37 3 155838414 155838414 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:155838414G>C ENST00000490337.1 + 1 78 c.14G>C c.(13-15)cGg>cCg p.R5P KCNAB1_ENST00000389636.5_Missense_Mutation_p.R5P NM_172160.2 NP_751892.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 5 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CTGGCAGCCCGGACAGGGGCA 0.507000 10 133 0 0 1 0 0 C11orf63 79864 broad.mit.edu 37 11 122756717 122756717 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:122756717A>T ENST00000227349.2 + 2 457 c.160A>T c.(160-162)Att>Ttt p.I54F C11orf63_ENST00000531316.1_Missense_Mutation_p.I54F|C11orf63_ENST00000307257.6_Missense_Mutation_p.I54F NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 54 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) CACGCAAGAGATTATGTGCCA 0.488000 40 52 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63174904 63174904 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:63174904C>A ENST00000322893.7 - 11 2557 c.2289G>T c.(2287-2289)acG>acT p.T763T KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 763 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) AGGCCAGAGACGTCTGAATGG 0.517000 22 51 3.62473e-10 5.37195e-10 1 1 0 CDH10 1008 broad.mit.edu 37 5 24498572 24498572 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:24498572C>A ENST00000264463.4 - 9 1957 c.1450G>T c.(1450-1452)Gac>Tac p.D484Y CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 484 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GGGGCATTGTCATTAACATCC 0.403000 HNSCC(23;0.051) 16 65 5.01169e-05 5.98894e-05 1 1 0 LRRC16A 55604 broad.mit.edu 37 6 25517610 25517610 + Missense_Mutation SNP A A C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:25517610A>C ENST00000329474.6 + 22 2209 c.1841A>C c.(1840-1842)cAa>cCa p.Q614P NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 614 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 ATCACTGCACAAGGCTTTCAG 0.308000 14 11 0 0 1 0 0 B3GAT2 135152 broad.mit.edu 37 6 71665602 71665602 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:71665602C>A ENST00000230053.6 - 1 1139 c.531G>T c.(529-531)caG>caT p.Q177H NM_080742.2 NP_542780.1 Q9NPZ5 B3GA2_HUMAN beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) 177 carbohydrate biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 GCACGCCGGGCTGCGCGCGCT 0.721000 12 8 4.3838e-07 5.73753e-07 1 1 0 KCNJ4 3761 broad.mit.edu 37 22 38823151 38823151 + Silent SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr22:38823151G>A ENST00000303592.3 - 2 1245 c.987C>T c.(985-987)taC>taT p.Y329Y RP3-434P1.6_ENST00000433230.1_RNA NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 329 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) AGTCCACCTTGTAGTGGCTCT 0.642000 9 37 0 0 1 0 0 CST8 10047 broad.mit.edu 37 20 23472329 23472329 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr20:23472329C>A ENST00000246012.1 + 2 382 c.25C>A c.(25-27)Ctg>Atg p.L9M NM_005492.2 NP_005483.1 O60676 CST8_HUMAN cystatin 8 (cystatin-related epididymal specific) 9 extracellular region cysteine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2) 16 Colorectal(13;0.0431)|Lung NSC(19;0.235) GTGGCTCTCCCTGATCCTCCT 0.587000 56 54 1.38909e-20 2.50978e-20 1 1 0 ZNF615 284370 broad.mit.edu 37 19 52496471 52496471 + Nonsense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:52496471C>A ENST00000602063.1 - 6 2207 c.1858G>T c.(1858-1860)Gga>Tga p.G620* ZNF615_ENST00000594083.1_Nonsense_Mutation_p.G631*|ZNF615_ENST00000391795.3_Nonsense_Mutation_p.G625*|ZNF615_ENST00000376716.5_Nonsense_Mutation_p.G620*|ZNF615_ENST00000598071.1_Nonsense_Mutation_p.G631* Q8N8J6 ZN615_HUMAN zinc finger protein 615 620 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GGCTTCTCTCCAGTATGAGTT 0.413000 10 66 1.76689e-08 2.42447e-08 1 1 0 CD177 57126 broad.mit.edu 37 19 43866343 43866343 + RNA SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:43866343G>A ENST00000378009.4 + 0 1346 CTC-490G23.4_ENST00000607109.1_RNA|CD177_ENST00000607517.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) CGCGTGAGAAGCGTGATGTGC 0.612000 13 76 0 0 1 0 0 TUBB4B 10383 broad.mit.edu 37 9 140137475 140137475 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:140137475G>A ENST00000340384.4 + 4 953 c.805G>A c.(805-807)Ggc>Agc p.G269S NM_006088.5 NP_006079.1 P68371 TBB2C_HUMAN tubulin, beta 4B class IVb 269 'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding CTTCATGCCCGGCTTTGCCCC 0.637000 11 40 0 0 1 0 0 CFC1 55997 broad.mit.edu 37 2 131356269 131356269 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:131356269C>G ENST00000259216.4 - 3 455 c.193G>C c.(193-195)Gcc>Ccc p.A65P NM_032545.3 NP_115934.1 P0CG37 CFC1_HUMAN cripto, FRL-1, cryptic family 1 65 determination of left/right symmetry|gastrulation anchored to membrane|extracellular region|plasma membrane endometrium(1)|lung(4) 5 Colorectal(110;0.1) CAGCCCTCGGCGCTCCCAGTC 0.622000 14 101 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72440371 72440371 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:72440371G>T ENST00000305425.4 - 1 959 c.537C>A c.(535-537)tcC>tcA p.S179S DACH1_ENST00000354591.4_Silent_p.S179S|DACH1_ENST00000313174.7_Silent_p.S179S|DACH1_ENST00000359684.2_Silent_p.S179S NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 177 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TTTCCACTGGGGACGGGGTTG 0.607000 5 22 0.000602214 0.000682761 1 1 0 IGLV2-18 28814 broad.mit.edu 37 22 23077405 23077405 + RNA SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr22:23077405C>A ENST00000390310.2 + 0 195 CAGCAGCCCCCAGGCACAGCC 0.582000 42 195 3.76604e-16 6.38466e-16 1 1 0 ZNF135 7694 broad.mit.edu 37 19 58579179 58579179 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:58579179T>A ENST00000506786.1 + 5 1755 c.1201T>A c.(1201-1203)Tgt>Agt p.C401S ZNF135_ENST00000401053.4_Missense_Mutation_p.C467S|ZNF135_ENST00000439855.2_Missense_Mutation_p.C443S|ZNF135_ENST00000511556.1_Missense_Mutation_p.C455S|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Missense_Mutation_p.C443S B4DHH9 B4DHH9_HUMAN zinc finger protein 135 455 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) ATGCAACGAGTGTGGGAAAAC 0.557000 5 49 0 0 1 0 0 ZBTB26 57684 broad.mit.edu 37 9 125681088 125681088 + Silent SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:125681088G>A ENST00000373656.3 - 2 1199 c.1126C>T c.(1126-1128)Ctg>Ttg p.L376L ZBTB26_ENST00000373654.1_Silent_p.L376L NM_020924.2 NP_065975.1 Q9HCK0 ZBT26_HUMAN zinc finger and BTB domain containing 26 376 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1) 11 TTGCCATGCAGCTGTTTAAGG 0.378000 6 38 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200950184 200950184 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:200950184T>A ENST00000332129.2 - 28 4160 c.3844A>T c.(3844-3846)Acg>Tcg p.T1282S KIF21B_ENST00000461742.2_Missense_Mutation_p.T1295S|KIF21B_ENST00000422435.2_Missense_Mutation_p.T1295S|KIF21B_ENST00000360529.5_Missense_Mutation_p.T1282S NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1295 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 AGTGGGGCCGTCCGTGCACCC 0.617000 14 83 0 0 1 0 0 TRAV20 28663 broad.mit.edu 37 14 22509254 22509254 + RNA SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:22509254C>A ENST00000390448.3 + 0 261 CTGGGAAAGGCCCTGAATTCC 0.478000 8 22 1.06961e-07 1.43088e-07 1 1 0 RYR1 6261 broad.mit.edu 37 19 38946365 38946365 + Silent SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:38946365C>T ENST00000355481.4 + 16 1896 c.1765C>T c.(1765-1767)Ctg>Ttg p.L589L RYR1_ENST00000360985.3_Silent_p.L589L|RYR1_ENST00000359596.3_Silent_p.L589L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 589 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CATCTCCCTCCTGGACAAGCA 0.567000 8 37 0 0 1 0 0 ALPK1 80216 broad.mit.edu 37 4 113352699 113352699 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:113352699C>G ENST00000458497.1 + 11 2275 c.1996C>G c.(1996-1998)Cag>Gag p.Q666E ALPK1_ENST00000504176.2_Missense_Mutation_p.Q588E|ALPK1_ENST00000177648.9_Missense_Mutation_p.Q666E NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 666 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) AAATCAGCCACAGCAACAGAT 0.498000 6 39 0 0 1 0 0 RPS4Y2 140032 broad.mit.edu 37 Y 22921814 22921814 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrY:22921814C>A ENST00000288666.5 + 3 142 c.142C>A c.(142-144)Ctc>Atc p.L48I NM_001039567.2 NP_001034656.1 Q8TD47 RS4Y2_HUMAN ribosomal protein S4, Y-linked 2 48 S4 RNA-binding. translation ribosome rRNA binding|structural constituent of ribosome lung(2) 2 GATAGTCTTCCTCAGGAATAG 0.463000 19 24 1.67942e-08 2.31143e-08 1 1 0 TBXA2R 6915 broad.mit.edu 37 19 3600594 3600594 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:3600594C>A ENST00000375190.4 - 2 432 c.39G>T c.(37-39)cgG>cgT p.R13R TBXA2R_ENST00000411851.3_Silent_p.R13R|TBXA2R_ENST00000589966.1_Silent_p.R13R NM_001060.5|NM_201636.2 NP_001051.1|NP_963998.2 P21731 TA2R_HUMAN thromboxane A2 receptor 13 platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) TGTTTGTGGGCCGGAAACAGG 0.667000 4 30 3.59834e-05 4.32277e-05 1 1 0 FLII 2314 broad.mit.edu 37 17 18150604 18150604 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:18150604G>C ENST00000327031.4 - 21 2780 c.2555C>G c.(2554-2556)gCc>gGc p.A852G FLII_ENST00000379450.4_Missense_Mutation_p.A766G|FLII_ENST00000579294.1_Missense_Mutation_p.A841G|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.A797G NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 852 multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) CTGCAGCACGGCCTCCGCATT 0.592000 13 69 0 0 1 0 0 ECT2 1894 broad.mit.edu 37 3 172480284 172480284 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:172480284G>T ENST00000417960.1 + 9 1218 c.741G>T c.(739-741)ctG>ctT p.L247L ECT2_ENST00000441497.2_Silent_p.L248L|ECT2_ENST00000232458.5_Silent_p.L248L|ECT2_ENST00000392692.3_Silent_p.L279L|ECT2_ENST00000540509.1_Silent_p.L279L|ECT2_ENST00000427830.1_Silent_p.L248L NM_001258316.1 NP_001245245.1 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 248 BRCT 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) TAAGTTTCCTGGGATTTTCAG 0.308000 6 10 0.0215528 0.0224952 1 1 0 ADRA2B 151 broad.mit.edu 37 2 96781309 96781309 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:96781309G>T ENST00000409345.3 - 1 675 c.580C>A c.(580-582)Cgc>Agc p.R194S NM_000682.5 NP_000673.2 P18089 ADA2B_HUMAN adrenoceptor alpha 2B 194 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding endometrium(2)|large_intestine(2)|lung(9)|ovary(3) 16 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) AGGTAGATGCGCAGGTAGACA 0.627000 20 24 5.03518e-11 7.63698e-11 1 1 0 OR4K13 390433 broad.mit.edu 37 14 20502491 20502491 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:20502491C>G ENST00000315693.2 - 1 428 c.427G>C c.(427-429)Ggg>Cgg p.G143R NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G143W(1) endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AACAGTAGCCCAGTGAGCACC 0.468000 17 80 0 0 1 0 0 TSPEAR 54084 broad.mit.edu 37 21 45947289 45947289 + Silent SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr21:45947289G>C ENST00000323084.4 - 7 1100 c.1035C>G c.(1033-1035)gcC>gcG p.A345A TSPEAR_ENST00000397916.1_Silent_p.A277A NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 345 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 CTTTGCGATTGGCTGTGGCCA 0.557000 32 46 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215824052 215824052 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:215824052G>C ENST00000366943.2 - 65 14611 c.14225C>G c.(14224-14226)aCg>aGg p.T4742R USH2A_ENST00000307340.3_Missense_Mutation_p.T4742R O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4742 Fibronectin type-III 33. 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) CACATGGAACGTGGGGGCTCT 0.587000 HNSCC(13;0.011) 21 182 0 0 1 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795580 142795580 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:142795580C>A ENST00000370498.1 - 2 851 c.98G>T c.(97-99)aGg>aTg p.R33M NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 33 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GGCTAAGACCCTGTTCGGTGC 0.398000 32 13 3.99451e-17 6.86178e-17 1 1 0 ZBTB25 7597 broad.mit.edu 37 14 64954061 64954061 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:64954061C>A ENST00000394715.1 - 6 1589 c.888G>T c.(886-888)agG>agT p.R296S ZBTB25_ENST00000261683.2_Missense_Mutation_p.R296S|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron P24278 ZBT25_HUMAN zinc finger and BTB domain containing 25 296 cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 10 all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469) AGGAGCTGAGCCTGCGGCATT 0.507000 15 107 1.52009e-12 2.40615e-12 1 1 0 AOC3 8639 broad.mit.edu 37 17 41004682 41004682 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:41004682G>T ENST00000308423.2 + 1 1482 c.1322G>T c.(1321-1323)cGg>cTg p.R441L NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 441 R -> W (in dbSNP:rs2229596). amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity p.R441Q(1) breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) CTCCCCCTGCGGCGACACCAC 0.547000 32 33 3.90053e-15 6.49134e-15 1 1 0 ARNTL2 56938 broad.mit.edu 37 12 27571020 27571020 + Splice_Site SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:27571020G>T ENST00000544915.1 + 15 1782 c.e15-1 ARNTL2_ENST00000266503.5_Splice_Site|ARNTL2_ENST00000395901.2_Splice_Site|ARNTL2_ENST00000311001.5_Splice_Site|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000542388.1_Splice_Site|ARNTL2_ENST00000546179.1_Intron|ARNTL2_ENST00000261178.5_Splice_Site NM_020183.4 NP_064568.3 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) TGTCTTTTCAGATGTCAAATA 0.383000 7 29 0.000157383 0.000183952 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25318320 25318320 + RNA SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr15:25318320T>C ENST00000549804.2 + 0 817 SNORD116-9_ENST00000384000.1_RNA|SNHG14_ENST00000551077.1_RNA TGAGAACTCATACCGTCGTTC 0.443000 14 75 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1629914 1629914 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr20:1629914G>T ENST00000381580.1 - 2 294 c.115C>A c.(115-117)Cca>Aca p.P39T SIRPG_ENST00000303415.3_Missense_Mutation_p.P72T|SIRPG_ENST00000381583.2_Missense_Mutation_p.P72T|SIRPG_ENST00000216927.4_Missense_Mutation_p.P72T|SIRPG_ENST00000344103.4_Missense_Mutation_p.P72T Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 72 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 TCCCGGCCTGGTCCAACTCCT 0.517000 45 38 3.4345e-17 5.91098e-17 1 1 0 PADI6 353238 broad.mit.edu 37 1 17708503 17708503 + RNA SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:17708503C>A ENST00000434762.2 + 0 645 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TGTCCAAGGCCCCAGCTGTAT 0.498000 13 69 1.5842e-08 2.19035e-08 1 1 0 DSG1 1828 broad.mit.edu 37 18 28934531 28934531 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr18:28934531C>A ENST00000257192.4 + 15 2584 c.2372C>A c.(2371-2373)cCc>cAc p.P791H DSG1_ENST00000462981.2_Missense_Mutation_p.P150H|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 791 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) GAAACAGAGCCCGTTGTTAGT 0.502000 29 86 6.38683e-12 9.88542e-12 1 1 0 GCG 2641 broad.mit.edu 37 2 163003954 163003954 + Nonsense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:163003954G>A ENST00000418842.2 - 3 417 c.163C>T c.(163-165)Cag>Tag p.Q55* GCG_ENST00000375497.3_Nonsense_Mutation_p.Q55* NM_002054.4 NP_002045.1 P01275 GLUC_HUMAN glucagon 55 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9) 14 Exenatide(DB01276)|Phentolamine(DB00692) AATGTGCCCTGTGAATGGCGC 0.483000 21 154 0 0 1 0 0 CLCN4 1183 broad.mit.edu 37 X 10182002 10182002 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:10182002G>A ENST00000380833.4 + 11 2249 c.1858G>A c.(1858-1860)Gag>Aag p.E620K CLCN4_ENST00000380829.1_Missense_Mutation_p.E589K|CLCN4_ENST00000421085.2_Missense_Mutation_p.E526K NM_001256944.1|NM_001830.3 NP_001243873.1|NP_001821.2 P51793 CLCN4_HUMAN chloride channel, voltage-sensitive 4 620 CBS 1. early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity p.E620K(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CATGACTGTCGAGGACGTGGA 0.632000 9 14 0 0 1 0 0 CMA1 1215 broad.mit.edu 37 14 24974788 24974788 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:24974788G>T ENST00000250378.3 - 5 707 c.678C>A c.(676-678)ccC>ccA p.P226P RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Silent_p.P115P NM_001836.3 NP_001827.1 P23946 CMA1_HUMAN chymase 1, mast cell 226 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity kidney(1)|lung(8)|pancreas(1)|prostate(1) 11 GBM - Glioblastoma multiforme(265;0.0271) AGACAGCAGGGGGCTTTGCAT 0.587000 31 46 1.75199e-13 2.83253e-13 1 1 0 SOX14 8403 broad.mit.edu 37 3 137483965 137483965 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:137483965G>T ENST00000306087.1 + 1 387 c.339G>T c.(337-339)ggG>ggT p.G113G NM_004189.3 NP_004180.1 O95416 SOX14_HUMAN SRY (sex determining region Y)-box 14 113 negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent nucleus sequence-specific DNA binding large_intestine(2)|lung(12) 14 TGCCCGTGGGGGCCTCCGACG 0.697000 28 48 2.24059e-21 4.08897e-21 1 1 0 SEMA5A 9037 broad.mit.edu 37 5 9054242 9054242 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:9054242C>A ENST00000382496.5 - 19 3311 c.2646G>T c.(2644-2646)ggG>ggT p.G882G NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 882 TSP type-1 6. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 CTGTGTGCAGCCCCAGGCAGA 0.567000 9 138 0.000274275 0.000315295 1 1 0 SLC17A8 246213 broad.mit.edu 37 12 100797858 100797858 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:100797858G>A ENST00000323346.5 + 9 1409 c.1096G>A c.(1096-1098)Gtt>Att p.V366I SLC17A8_ENST00000392989.3_Missense_Mutation_p.V316I NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 366 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 TATGACAATCGTTGTACCTAT 0.433000 4 26 0 0 1 0 0 SLC6A2 6530 broad.mit.edu 37 16 55732435 55732435 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:55732435C>A ENST00000379906.2 + 10 1699 c.1444C>A c.(1444-1446)Ctt>Att p.L482I SLC6A2_ENST00000414754.3_Missense_Mutation_p.L482I|SLC6A2_ENST00000567238.1_Missense_Mutation_p.L377I|SLC6A2_ENST00000561820.1_Missense_Mutation_p.L482I|SLC6A2_ENST00000219833.8_Missense_Mutation_p.L482I|SLC6A2_ENST00000568943.1_Missense_Mutation_p.L482I|SLC6A2_ENST00000566163.1_Missense_Mutation_p.L437I NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 482 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) CACCTCCATCCTTTTTGCTGT 0.532000 9 52 1.76689e-08 2.42447e-08 1 1 0 OR6T1 219874 broad.mit.edu 37 11 123813821 123813821 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:123813821G>T ENST00000321252.2 - 1 759 c.725C>A c.(724-726)gCc>gAc p.A242D NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) AAGATGCGAGGCGCAAGTGGA 0.522000 29 54 3.65163e-15 6.08828e-15 1 1 0 EBF3 253738 broad.mit.edu 37 10 131760458 131760458 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:131760458G>T ENST00000368648.3 - 4 460 c.388C>A c.(388-390)Ctc>Atc p.L130I EBF3_ENST00000355311.5_Missense_Mutation_p.L130I NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 130 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GAATCTATGAGGCGAACATAC 0.507000 4 35 0.00909568 0.00974 1 1 0 SEMA5A 9037 broad.mit.edu 37 5 9122822 9122822 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:9122822T>A ENST00000382496.5 - 14 2392 c.1727A>T c.(1726-1728)cAg>cTg p.Q576L NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 576 TSP type-1 1. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GCCACCACACTGCGGGGCCGG 0.632000 14 158 0 0 1 0 0 DBX1 120237 broad.mit.edu 37 11 20177869 20177869 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:20177869G>A ENST00000524983.2 - 4 1211 c.923C>T c.(922-924)cCg>cTg p.P308L DBX1_ENST00000227256.3_Missense_Mutation_p.P347L A6NMT0 DBX1_HUMAN developing brain homeobox 1 308 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 GGGGGGCAGCGGCCCTGGCAG 0.701000 20 80 0 0 1 0 0 RAX2 84839 broad.mit.edu 37 19 3771572 3771572 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:3771572G>T ENST00000555633.1 - 2 509 c.169C>A c.(169-171)Cgt>Agt p.R57S RAX2_ENST00000555978.1_Missense_Mutation_p.R57S Q96IS3 RAX2_HUMAN retina and anterior neural fold homeobox 2 57 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18) AGCTCCTCACGGCTGTACACA 0.622000 8 14 5.18039e-06 6.4898e-06 1 1 0 PSMC2 5701 broad.mit.edu 37 7 103008398 103008398 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:103008398G>T ENST00000435765.1 + 13 1610 c.1199G>T c.(1198-1200)cGg>cTg p.R400L PSMC2_ENST00000292644.3_Missense_Mutation_p.R400L|PSMC2_ENST00000544811.1_Missense_Mutation_p.R263L|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron NM_002803.3 NP_002794.1 P35998 PRS7_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 2 400 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|interspecies interaction between organisms|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 mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 21 ATCAGAGCACGGCGAAAAATT 0.413000 19 20 1.96292e-10 2.93791e-10 1 1 0 COL4A4 1286 broad.mit.edu 37 2 227924193 227924193 + Nonsense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:227924193C>A ENST00000396625.3 - 28 2518 c.2311G>T c.(2311-2313)Gga>Tga p.G771* COL4A4_ENST00000329662.7_Nonsense_Mutation_p.G771* NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 771 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCCCTCTTTCCCGGGGGTCCC 0.607000 19 98 2.94398e-08 4.02744e-08 1 1 0 NAA30 122830 broad.mit.edu 37 14 57863469 57863469 + Splice_Site SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:57863469G>T ENST00000556492.1 + 3 925 c.e3-1 NAA30_ENST00000554703.1_Splice_Site|NAA30_ENST00000555166.1_Splice_Site NM_001011713.2 NP_001011713.2 Q147X3 NAA30_HUMAN N(alpha)-acetyltransferase 30, NatC catalytic subunit cytoplasm peptide alpha-N-acetyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 13 TTATTTTTAAGGCCATGGTAG 0.418000 4 47 0.000602214 0.000682761 1 1 0 HERC2 8924 broad.mit.edu 37 15 28510962 28510962 + Splice_Site SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr15:28510962C>T ENST00000261609.7 - 13 1865 c.e13+1 NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AGCAGACGTACCATGGCCCAG 0.617000 5 51 0 0 1 0 0 GOLM1 51280 broad.mit.edu 37 9 88692462 88692462 + Silent SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:88692462T>A ENST00000388712.3 - 3 342 c.174A>T c.(172-174)gcA>gcT p.A58A GOLM1_ENST00000257504.6_5'UTR|GOLM1_ENST00000388711.3_Silent_p.A58A NM_016548.3 NP_057632.2 Q8NBJ4 GOLM1_HUMAN golgi membrane protein 1 58 Golgi apparatus|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 CGCCTCTCTCTGCAGCCGCCC 0.597000 14 85 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169446026 169446026 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:169446026C>A ENST00000256935.8 + 33 3375 c.3295C>A c.(3295-3297)Cct>Act p.P1099T DOCK2_ENST00000520908.1_Missense_Mutation_p.P591T|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.P160T NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1099 Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GACACTTATCCCTGAGGCTGA 0.423000 36 141 1.96642e-18 3.41675e-18 1 1 0 KCNJ8 3764 broad.mit.edu 37 12 21918784 21918784 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:21918784C>T ENST00000240662.2 - 3 1493 c.1148G>A c.(1147-1149)cGc>cAc p.R383H RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 383 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) CATGGAGTTGCGCTTCCTCAG 0.458000 12 45 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183676178 183676178 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:183676178T>A ENST00000511685.1 + 22 4781 c.4658T>A c.(4657-4659)aTt>aAt p.I1553N TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.I1553N teneurin transmembrane protein 3 GACAATGATATTACTGCTGTG 0.413000 4 29 0 0 1 0 0 CADM2 253559 broad.mit.edu 37 3 86115873 86115873 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:86115873C>A ENST00000383699.3 + 10 1782 c.1155C>A c.(1153-1155)gcC>gcA p.A385A CADM2_ENST00000407528.2_Silent_p.A416A|CADM2_ENST00000405615.2_Silent_p.A418A NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 416 adherens junction organization|cell junction assembly integral to membrane|plasma membrane p.A418A(1)|p.A385A(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) CTGATACAGCCATTATCAATG 0.388000 8 34 0.27861 0.280155 1 1 0 FNDC9 408263 broad.mit.edu 37 5 156770407 156770407 + Nonsense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:156770407G>T ENST00000312349.4 - 2 325 c.138C>A c.(136-138)taC>taA p.Y46* CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000435847.2_Intron NM_001001343.3 NP_001001343.2 Q8TBE3 FNDC9_HUMAN fibronectin type III domain containing 9 46 Fibronectin type-III. integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 9 GGTGGAAGCTGTAGCGAAGAT 0.537000 21 37 4.96729e-08 6.74451e-08 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141114003 141114003 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:141114003C>A ENST00000389484.3 - 75 12409 c.11438G>T c.(11437-11439)gGa>gTa p.G3813V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3813 EGF-like 8. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGCATCATCTCCACATGGATT 0.338000 TSP Lung(27;0.18) 18 26 1.33834e-09 1.92373e-09 1 1 0 ABCC4 10257 broad.mit.edu 37 13 95818411 95818411 + Splice_Site SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:95818411C>A ENST00000376887.4 - 15 2149 c.e15+1 ABCC4_ENST00000431522.1_Splice_Site|ABCC4_ENST00000412704.1_Splice_Site|ABCC4_ENST00000536256.1_Splice_Site NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) GGTGAACTCACATCTTGGCTC 0.448000 23 28 6.44725e-10 9.52387e-10 1 1 0 KBTBD3 143879 broad.mit.edu 37 11 105925069 105925069 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:105925069T>A ENST00000526793.1 - 3 506 c.347A>T c.(346-348)aAa>aTa p.K116I KBTBD3_ENST00000531837.1_Missense_Mutation_p.K116I|KBTBD3_ENST00000534815.1_Missense_Mutation_p.K37I NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 112 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) ATCTGTTATTTTTGTTTTTCC 0.328000 3 7 0 0 1 0 0 UNC80 285175 broad.mit.edu 37 2 210642138 210642138 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:210642138T>A ENST00000439458.1 + 4 535 c.455T>A c.(454-456)gTt>gAt p.V152D UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.V152D NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 152 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 ATCCACCAGGTTGAAAACCAG 0.547000 15 43 0 0 1 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431865 56431865 + Missense_Mutation SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:56431865T>C ENST00000302969.2 + 1 728 c.704T>C c.(703-705)cTt>cCt p.L235P NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 GAAGGCCGCCTTAAGGCTTTC 0.488000 6 58 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62049500 62049500 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:62049500C>G ENST00000578147.1 - 3 554 c.478G>C c.(478-480)Gtg>Ctg p.V160L SCN4A_ENST00000435607.1_Missense_Mutation_p.V160L P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 160 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) ACTTACTCCACATTCTTGGAC 0.557000 7 8 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113668530 113668530 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr8:113668530C>T ENST00000297405.5 - 18 3101 c.2857G>A c.(2857-2859)Gat>Aat p.D953N CSMD3_ENST00000352409.3_Missense_Mutation_p.D953N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D849N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D913N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 953 CUB 5. 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 TTTGGCCCATCATGAACTTCC 0.328000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 20 19 0 0 1 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35936474 35936474 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:35936474T>A ENST00000325722.3 - 6 1337 c.1103A>T c.(1102-1104)aAa>aTa p.K368I KIAA0319L_ENST00000485551.1_5'UTR NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 368 PKD 1. cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTTCGATAGTTTGAGGATCTG 0.413000 29 36 0 0 1 0 0 SYBU 55638 broad.mit.edu 37 8 110592165 110592165 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr8:110592165C>A ENST00000399066.3 - 4 1315 c.588G>T c.(586-588)ccG>ccT p.P196P SYBU_ENST00000424158.2_Silent_p.P204P|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000276646.9_Silent_p.P199P|SYBU_ENST00000422135.1_Silent_p.P199P|SYBU_ENST00000419099.1_Silent_p.P198P|SYBU_ENST00000529175.1_5'UTR|SYBU_ENST00000408889.3_Silent_p.P80P|SYBU_ENST00000533065.1_Silent_p.P80P|SYBU_ENST00000440310.1_Silent_p.P199P|SYBU_ENST00000408908.2_Silent_p.P199P|SYBU_ENST00000528331.1_Silent_p.P80P|SYBU_ENST00000533895.1_Silent_p.P198P|SYBU_ENST00000533171.1_Silent_p.P199P|SYBU_ENST00000528647.1_Silent_p.P198P|SYBU_ENST00000446070.2_Silent_p.P198P|SYBU_ENST00000433638.1_Silent_p.P199P|SYBU_ENST00000532779.1_Silent_p.P131P|SYBU_ENST00000529690.1_Silent_p.P69P NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 199 Ser-rich.|Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 CCTTTTCCCGCGGGGATGATG 0.507000 17 202 9.16793e-09 1.28125e-08 1 1 0 DEFB118 117285 broad.mit.edu 37 20 29956498 29956498 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr20:29956498C>A ENST00000253381.2 + 1 78 c.45C>A c.(43-45)ccC>ccA p.P15P NM_054112.2 NP_473453.1 Q96PH6 DB118_HUMAN defensin, beta 118 15 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1) 14 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TGCTCCTACCCCAAGTGATCC 0.493000 25 20 1.85244e-09 2.6501e-09 1 1 0 DDX26B 203522 broad.mit.edu 37 X 134681065 134681065 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:134681065G>C ENST00000370752.4 + 6 951 c.617G>C c.(616-618)cGc>cCc p.R206P DDX26B_ENST00000493637.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 206 VWFA. large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) GGGATAGGTCGCTCCTACTGT 0.279000 10 36 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76754985 76754985 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr18:76754985C>G ENST00000537592.2 + 2 2994 c.2994C>G c.(2992-2994)agC>agG p.S998R SALL3_ENST00000536229.3_Intron|SALL3_ENST00000575389.2_Intron NM_171999.3 NP_741996.2 Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 998 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) ACTACCGCAGCCATACTAAGG 0.542000 20 34 0 0 1 0 0 HLA-DRB6 3128 broad.mit.edu 37 6 32522722 32522722 + RNA SNP C C A rs114905475 by1000genomes TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:32522722C>A ENST00000411500.1 - 0 484 NR_001298.1 TGGGTCTTTGCAGGATACACA 0.488000 6 8 0.0293803 0.0305596 1 1 0 F5 2153 broad.mit.edu 37 1 169495179 169495179 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:169495179C>A ENST00000367796.3 - 18 5892 c.5691G>T c.(5689-5691)caG>caT p.Q1897H F5_ENST00000367797.3_Missense_Mutation_p.Q1892H P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1892 F5/8 type A 3.|Plastocyanin-like 6. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCCCTGCTCTCTGGTTTTCTC 0.398000 64 57 1.84395e-34 3.63579e-34 1 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43840455 43840455 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:43840455C>A ENST00000389420.3 - 15 2139 c.2140G>T c.(2140-2142)Ggt>Tgt p.G714C ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G714C NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 714 Cys-rich. 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) TTGTCCCCACCACACACTCCA 0.368000 3 20 0.004672 0.00506878 1 1 0 PALD1 27143 broad.mit.edu 37 10 72326463 72326463 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:72326463C>G ENST00000263563.6 + 20 2813 c.2545C>G c.(2545-2547)Ccc>Gcc p.P849A NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 CAGCCTCGAGCCCTCTGCCCC 0.687000 3 9 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48275550 48275550 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:48275550C>T ENST00000225964.5 - 7 678 c.560G>A c.(559-561)cGt>cAt p.R187H NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 187 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) AGGGAGACCACGAGGACCAGA 0.557000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta OREG0024560 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 95 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176083 140176083 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:140176083G>C ENST00000526136.1 + 1 1534 c.1534G>C c.(1534-1536)Gcg>Ccg p.A512P PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A512P|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A512P NM_018905.2 NP_061728.1 p.A512T(2) NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCGGTGCACGCGGAGAGCGG 0.697000 47 72 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140228240 140228240 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:140228240C>A ENST00000378122.3 + 1 884 c.160C>A c.(160-162)Ctg>Atg p.L54M PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.L54M|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACCTGGGGCTGGAGCTGGC 0.632000 61 95 3.30226e-22 6.1001e-22 1 1 0 IGHV2-70 28454 broad.mit.edu 37 14 107179100 107179100 + RNA SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:107179100G>T ENST00000390634.2 - 0 152 CGCAGGACCAGACTCCCTCAA 0.507000 11 61 3.07112e-06 3.89037e-06 1 1 0 PLVAP 83483 broad.mit.edu 37 19 17476197 17476197 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:17476197G>T ENST00000252590.4 - 3 1138 c.1077C>A c.(1075-1077)gaC>gaA p.D359E NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 359 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TGGCCAGGTTGTCTCGTTCCT 0.617000 41 66 2.26627e-22 4.22945e-22 1 1 0 ZNF716 441234 broad.mit.edu 37 7 57522779 57522779 + Splice_Site SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:57522779G>T ENST00000420713.1 + 3 279 c.166_splice c.e3-1 p.G56_splice NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 AATAAAACAGGTATTGCTGTC 0.348000 12 53 3.03607e-14 4.99767e-14 1 1 0 PCDH10 57575 broad.mit.edu 37 4 134071765 134071765 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:134071765G>A ENST00000264360.4 + 1 1296 c.470G>A c.(469-471)cGc>cAc p.R157H NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 157 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) AACTCCTTGCGCGACTACGAG 0.622000 27 48 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3591883 3591883 + RNA SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:3591883G>T ENST00000301749.7 - 0 3545 NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GATCATCCTGGCCCCGGAGTC 0.532000 9 13 0.000442599 0.000506866 1 1 0 SNAPC4 6621 broad.mit.edu 37 9 139291435 139291435 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:139291435C>A ENST00000298532.2 - 2 539 c.171G>T c.(169-171)ccG>ccT p.P57P NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 57 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) TTACCGAGATCGGGGGATCGG 0.587000 9 49 1.12685e-05 1.39625e-05 1 1 0 MARK1 4139 broad.mit.edu 37 1 220752824 220752824 + Silent SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:220752824C>T ENST00000366918.4 + 2 777 c.180C>T c.(178-180)taC>taT p.Y60Y MARK1_ENST00000472121.1_3'UTR|MARK1_ENST00000366917.4_Silent_p.Y60Y|MARK1_ENST00000402574.1_5'UTR Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 60 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) TTGGAAATTACCGTTTACAAA 0.428000 7 52 0 0 1 0 0 FGFR1 2260 broad.mit.edu 37 8 38275833 38275833 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr8:38275833C>A ENST00000341462.5 - 10 2284 c.1343G>T c.(1342-1344)cGg>cTg p.R448L FGFR1_ENST00000326324.6_Missense_Mutation_p.R357L|FGFR1_ENST00000425967.3_Missense_Mutation_p.R479L|FGFR1_ENST00000397103.1_Missense_Mutation_p.R359L|FGFR1_ENST00000397108.4_Missense_Mutation_p.R446L|FGFR1_ENST00000356207.5_Missense_Mutation_p.R359L|FGFR1_ENST00000397113.2_Missense_Mutation_p.R446L|FGFR1_ENST00000532791.1_Missense_Mutation_p.R446L|FGFR1_ENST00000447712.2_Missense_Mutation_p.R448L|FGFR1_ENST00000335922.5_Missense_Mutation_p.R438L|FGFR1_ENST00000397091.5_Missense_Mutation_p.R446L P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 448 axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) GGAGGAGAGCCGTGATGGCCG 0.577000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 5 25 0.014758 0.0155645 1 1 0 SFPQ 6421 broad.mit.edu 37 1 35652667 35652667 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:35652667C>A ENST00000357214.5 - 9 2019 c.1921G>T c.(1921-1923)Ggt>Tgt p.G641C NM_005066.2 NP_005057.1 P23246 SFPQ_HUMAN splicing factor proline/glutamine-rich 641 Poly-Gly. alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|nucleotide binding|protein binding|RNA binding SFPQ/TFE3(6) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) GCTTCATAACCTATGCCACCA 0.463000 T TFE3 papillary renal cell 11 55 3.86212e-05 4.6213e-05 1 1 0 MIR520G 574484 broad.mit.edu 37 19 54225466 54225466 + RNA SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:54225466G>C ENST00000385064.1 + 0 47 NR_030206.1 TTTGTTGTCTGAGAAAAAACA 0.413000 5 35 0 0 1 0 0 FGF12 2257 broad.mit.edu 37 3 192078251 192078251 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:192078251G>T ENST00000454309.2 - 2 1101 c.276C>A c.(274-276)acC>acA p.T92T FGF12_ENST00000445105.1_Silent_p.T30T|FGF12_ENST00000430714.1_Intron|FGF12_ENST00000264730.3_Silent_p.T30T|FGF12_ENST00000450716.1_Silent_p.T30T NM_021032.4 NP_066360.1 P61328 FGF12_HUMAN fibroblast growth factor 12 92 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) TCCCATCAATGGTACCATCTG 0.413000 9 45 7.48243e-07 9.73682e-07 1 1 0 INSRR 3645 broad.mit.edu 37 1 156814032 156814032 + Silent SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:156814032G>A ENST00000368195.3 - 15 3174 c.2778C>T c.(2776-2778)gcC>gcT p.A926A NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 926 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCACAGGGGTGGCAGTGAGGA 0.577000 15 47 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26743881 26743881 + Splice_Site SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr22:26743881T>A ENST00000529632.2 + 11 2603 c.e11+2 SEZ6L_ENST00000404234.3_Splice_Site|SEZ6L_ENST00000343706.4_Splice_Site|SEZ6L_ENST00000402979.1_Splice_Site|SEZ6L_ENST00000248933.6_Splice_Site|SEZ6L_ENST00000403121.1_Splice_Site|SEZ6L_ENST00000360929.3_Splice_Site|SEZ6L_ENST00000411842.2_Splice_Site NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GTGAGAAAAGTAAGAGTGGTC 0.532000 7 40 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111758262 111758262 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:111758262G>T ENST00000261726.6 + 17 2603 c.2449G>T c.(2449-2451)Ggc>Tgc p.G817C NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 817 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 TGGCTACTCTGGCCAGCCCAA 0.756000 23 32 4.26978e-12 6.61998e-12 1 1 0 TXNDC16 57544 broad.mit.edu 37 14 52906069 52906069 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:52906069C>G ENST00000281741.4 - 20 2418 c.2047G>C c.(2047-2049)Gat>Cat p.D683H TXNDC16_ENST00000554399.1_5'UTR NM_001160047.1|NM_020784.2 NP_001153519.1|NP_065835.2 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 683 cell redox homeostasis extracellular region breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1) 21 Breast(41;0.0716) GGCAGAGGATCAAAATATGCC 0.383000 6 12 0 0 1 0 0 RECQL 5965 broad.mit.edu 37 12 21636328 21636328 + Nonsense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:21636328C>A ENST00000444129.2 - 6 1150 c.682G>T c.(682-684)Gga>Tga p.G228* RECQL_ENST00000421138.2_Nonsense_Mutation_p.G228* NM_002907.3|NM_032941.2 NP_002898.2|NP_116559.1 P46063 RECQ1_HUMAN RecQ protein-like (DNA helicase Q1-like) 228 Helicase ATP-binding. DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 AAATCATGTCCCCACTGACTA 0.398000 Other identified genes with known or suspected DNA repair function 4 15 0.000602214 0.000682761 1 1 0 OR14A16 284532 broad.mit.edu 37 1 247978213 247978213 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:247978213C>A ENST00000357627.1 - 1 818 c.819G>T c.(817-819)gtG>gtT p.V273V NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 TAGTGTAGAACACAGAAATTA 0.418000 5 38 0.000602214 0.000682761 1 1 0 KIF19 124602 broad.mit.edu 37 17 72350577 72350577 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:72350577G>T ENST00000389916.4 + 18 2723 c.2585G>T c.(2584-2586)gGg>gTg p.G862V NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 862 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 GGACATCATGGGGACGGCCCC 0.662000 13 9 7.03913e-09 9.86783e-09 1 1 0 PKP2 5318 broad.mit.edu 37 12 33031066 33031066 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:33031066G>C ENST00000340811.4 - 3 856 c.748C>G c.(748-750)Cgc>Ggc p.R250G PKP2_ENST00000070846.6_Missense_Mutation_p.R250G NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 250 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) CCCATGCTGCGGCTGGTCCCT 0.622000 13 31 0 0 1 0 0 OR2D3 120775 broad.mit.edu 37 11 6942351 6942351 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:6942351A>T ENST00000317834.3 + 1 147 c.119A>T c.(118-120)cAg>cTg p.Q40L NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TTGCAGACCCAGATCCTGCTA 0.433000 13 41 0 0 1 0 0 SEMA3G 56920 broad.mit.edu 37 3 52469754 52469754 + Silent SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:52469754T>C ENST00000231721.2 - 16 2213 c.2214A>G c.(2212-2214)tcA>tcG p.S738S NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 738 multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) GGAAGCAGCCTGAGCATTCCG 0.652000 37 67 0 0 1 0 0 CRB2 286204 broad.mit.edu 37 9 126134612 126134612 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:126134612G>T ENST00000373631.3 + 9 2594 c.2593G>T c.(2593-2595)Ggc>Tgc p.G865C CRB2_ENST00000359999.3_Missense_Mutation_p.G865C|CRB2_ENST00000373629.2_Missense_Mutation_p.G533C NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 865 extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 GGTCCCTGATGGCTTTGTGTG 0.607000 16 57 0.00074312 0.000840411 1 1 0 RBM41 55285 broad.mit.edu 37 X 106310785 106310785 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:106310785C>T ENST00000372479.3 - 7 1244 c.1214G>A c.(1213-1215)gGt>gAt p.G405D RBM41_ENST00000372487.1_Splice_Site NM_018301.3 NP_060771.3 Q96IZ5 RBM41_HUMAN RNA binding motif protein 41 405 nucleotide binding|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 13 TGTAGTGCTACCTGTAGCACA 0.368000 7 25 0 0 1 0 0 SLC6A4 6532 broad.mit.edu 37 17 28543233 28543233 + Splice_Site SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:28543233A>G ENST00000401766.2 - 6 1351 c.837_splice c.e6-1 p.V280_splice SLC6A4_ENST00000261707.3_Splice_Site_p.V280_splice P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 280 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) CACCCACACCACCTGTAAGGA 0.612000 10 28 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12736162 12736162 + Missense_Mutation SNP A A C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:12736162A>C ENST00000380682.1 + 16 3723 c.3217A>C c.(3217-3219)Agt>Cgt p.S1073R NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 1073 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 TTCACGAGACAGTCAACACCT 0.488000 9 19 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7640163 7640163 + Silent SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:7640163T>A ENST00000359156.4 - 8 2044 c.1842A>T c.(1840-1842)atA>atT p.I614I CD163_ENST00000541972.1_Silent_p.I602I|CD163_ENST00000396620.3_Silent_p.I647I|CD163_ENST00000432237.2_Silent_p.I614I NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 614 SRCR 6. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GGGCATCTTCTATGTCCCAGT 0.522000 22 47 0 0 1 0 0 SLAMF7 57823 broad.mit.edu 37 1 160709092 160709092 + Translation_Start_Site SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:160709092A>T ENST00000368043.3 + 1 38 c.1A>T c.(1-3)Atg>Ttg p.M1L SLAMF7_ENST00000444090.2_Start_Codon_SNP_p.M1L|SLAMF7_ENST00000441662.2_Start_Codon_SNP_p.M1L|SLAMF7_ENST00000458104.2_Start_Codon_SNP_p.M1L|SLAMF7_ENST00000458602.2_Start_Codon_SNP_p.M1L|SLAMF7_ENST00000488819.1_3'UTR|SLAMF7_ENST00000368042.3_Start_Codon_SNP_p.M1L|SLAMF7_ENST00000359331.4_Start_Codon_SNP_p.M1L NM_021181.3 NP_067004.3 Q9NQ25 SLAF7_HUMAN SLAM family member 7 1 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) AGAGAGCAATATGGCTGGTTC 0.512000 15 82 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26890001 26890001 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:26890001G>C ENST00000231021.4 - 9 1628 c.1456C>G c.(1456-1458)Ccg>Gcg p.P486A NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 486 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GCAAATTCCGGAGCATGGTCA 0.333000 19 92 0 0 1 0 0 MESDC1 59274 broad.mit.edu 37 15 81295678 81295678 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr15:81295678G>T ENST00000267984.2 + 1 2384 c.1066G>T c.(1066-1068)Gtg>Ttg p.V356L NM_022566.2 NP_072088.1 Q9H1K6 MESD1_HUMAN mesoderm development candidate 1 356 endometrium(1)|lung(2) 3 TTTACCGCCAGTGAATTCCAA 0.547000 6 15 0.00116845 0.00130515 1 1 0 FAM120AOS 158293 broad.mit.edu 37 9 96212848 96212848 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:96212848C>A ENST00000375412.5 - 2 1479 c.597G>T c.(595-597)caG>caT p.Q199H FAM120AOS_ENST00000423591.1_Missense_Mutation_p.Q17H|FAM120AOS_ENST00000479094.1_5'UTR NM_198841.2 NP_942138.2 Q5T036 F120S_HUMAN family with sequence similarity 120A opposite strand 199 kidney(1)|large_intestine(1)|lung(3)|skin(1) 6 CGGCCACAGCCTGTCGGTTGC 0.507000 19 36 3.32936e-07 4.38914e-07 1 1 0 LILRA5 353514 broad.mit.edu 37 19 54822753 54822753 + Missense_Mutation SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:54822753A>G ENST00000301219.3 - 5 762 c.643T>C c.(643-645)Tat>Cat p.Y215H LILRA5_ENST00000346508.3_Missense_Mutation_p.Y203H|LILRA5_ENST00000432233.3_Missense_Mutation_p.Y215H|LILRA5_ENST00000446712.3_Missense_Mutation_p.Y203H|AC008984.2_ENST00000507363.1_RNA NM_021250.2 NP_067073.1 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 215 Ig-like C2-type 2. innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CGAGAGCCATAGCATCTGAGC 0.587000 9 60 0 0 1 0 0 ITSN1 6453 broad.mit.edu 37 21 35186367 35186367 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr21:35186367G>T ENST00000381318.3 + 22 3006 c.2718G>T c.(2716-2718)gtG>gtT p.V906V ITSN1_ENST00000399326.3_Silent_p.V901V|ITSN1_ENST00000437442.2_Silent_p.V901V|ITSN1_ENST00000399367.3_Silent_p.V901V|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Silent_p.V906V|ITSN1_ENST00000381285.4_Silent_p.V906V|ITSN1_ENST00000379960.5_Silent_p.V901V|ITSN1_ENST00000399349.1_Silent_p.V901V|ITSN1_ENST00000399352.1_Silent_p.V901V|ITSN1_ENST00000399353.1_Silent_p.V864V|ITSN1_ENST00000399355.2_Silent_p.V906V|ITSN1_ENST00000399338.4_Silent_p.V901V NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 906 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 CGTCTCCTGTGCTAGGCCAGG 0.552000 5 34 4.096e-09 5.8048e-09 1 1 0 SSX7 280658 broad.mit.edu 37 X 52682023 52682023 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:52682023A>T ENST00000298181.5 - 3 239 c.81T>A c.(79-81)gaT>gaA p.D27E NM_173358.2 NP_775494.1 Q7RTT5 SSX7_HUMAN synovial sarcoma, X breakpoint 7 27 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1) 16 Ovarian(276;0.236) ATTTGGCAATATCATCGAAGG 0.408000 9 12 0 0 1 0 0 HTR1A 3350 broad.mit.edu 37 5 63256708 63256708 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:63256708G>T ENST00000323865.3 - 1 1072 c.839C>A c.(838-840)gCg>gAg p.A280E RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 280 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TTGCCTCACCGCGCCATTGGC 0.657000 13 109 2.68362e-12 4.21115e-12 1 1 0 PSG2 5670 broad.mit.edu 37 19 43579571 43579571 + Missense_Mutation SNP T T G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:43579571T>G ENST00000406487.1 - 3 742 c.644A>C c.(643-645)tAt>tCt p.Y215S NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 215 Ig-like C2-type 1. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) TTCACATTCATAGGGTCCTGC 0.507000 39 216 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72184690 72184690 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:72184690C>G ENST00000537465.1 - 5 611 c.453G>C c.(451-453)gaG>gaC p.E151D PMFBP1_ENST00000237353.10_Missense_Mutation_p.E151D|PMFBP1_ENST00000355636.6_Missense_Mutation_p.E6D Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 151 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) CCCCTGTGTTCTCGTTGTGAT 0.498000 11 92 0 0 1 0 0 TTC21B 79809 broad.mit.edu 37 2 166788355 166788355 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:166788355C>A ENST00000243344.7 - 8 944 c.807G>T c.(805-807)aaG>aaT p.K269N NM_024753.4 NP_079029.3 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 269 cilium axoneme|cytoplasm|cytoskeleton binding breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1) 58 AGTTTTCCAGCTTGGTGGAAG 0.373000 14 28 4.3838e-07 5.73753e-07 1 1 0 PKN1 5585 broad.mit.edu 37 19 14574749 14574749 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:14574749G>T ENST00000242783.6 + 11 1770 c.1605G>T c.(1603-1605)ggG>ggT p.G535G PKN1_ENST00000342216.4_Silent_p.G541G NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 535 activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 TTAGCCCTGGGGCTTCTCCAG 0.667000 22 35 7.45023e-12 1.15117e-11 1 1 0 HTR1A 3350 broad.mit.edu 37 5 63256541 63256541 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:63256541C>G ENST00000323865.3 - 1 1239 c.1006G>C c.(1006-1008)Gcc>Ccc p.A336P RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 336 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CGGGCCAGGGCCATCTTGCGC 0.607000 75 108 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152185596 152185596 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:152185596G>A ENST00000368801.2 - 3 8584 c.8509C>T c.(8509-8511)Ccc>Tcc p.P2837S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2837 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TATTCATAGGGTGAAGTGCTA 0.378000 8 73 0 0 1 0 0 NFKBIB 4793 broad.mit.edu 37 19 39395971 39395971 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:39395971G>C ENST00000392079.3 + 3 417 c.319G>C c.(319-321)Gca>Cca p.A107P NFKBIB_ENST00000313582.5_Missense_Mutation_p.A139P|NFKBIB_ENST00000572515.1_Missense_Mutation_p.A139P Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta 139 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 8 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CCGTGTGGGGGCACACGCCTG 0.726000 15 66 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152191728 152191728 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:152191728G>T ENST00000368801.2 - 3 2452 c.2377C>A c.(2377-2379)Caa>Aaa p.Q793K FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 793 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCCGTGTTGGCCGTGGCTG 0.597000 7 102 0.307466 0.308486 1 1 0 MATN2 4147 broad.mit.edu 37 8 98943627 98943627 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr8:98943627G>T ENST00000254898.5 + 3 820 c.589G>T c.(589-591)Ggc>Tgc p.G197C MATN2_ENST00000524308.1_Missense_Mutation_p.G197C|MATN2_ENST00000520016.1_Missense_Mutation_p.G197C|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.G197C NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 197 VWFA 1. proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) CATTGGTGTGGGCCAGGTAGA 0.552000 10 56 2.17888e-05 2.64912e-05 1 1 0 MYBPC1 4604 broad.mit.edu 37 12 102010991 102010991 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:102010991G>C ENST00000549145.1 + 3 173 c.73G>C c.(73-75)Gag>Cag p.E25Q MYBPC1_ENST00000547509.1_Intron|MYBPC1_ENST00000547405.1_Intron|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E25Q|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E13Q|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E25Q|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E25Q|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E25Q|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E25Q|MYBPC1_ENST00000392934.3_Intron|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E25Q|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E25Q|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E25Q|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E25Q Q00872 MYPC1_HUMAN myosin binding protein C, slow type 25 cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 ACCAAGTAAAGAGAAGGAGGC 0.433000 4 8 0 0 1 0 0 APP 351 broad.mit.edu 37 21 27269912 27269912 + Silent SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr21:27269912T>A ENST00000358918.3 - 15 2182 c.1983A>T c.(1981-1983)tcA>tcT p.S661S APP_ENST00000440126.3_Silent_p.S655S|APP_ENST00000354192.3_Silent_p.S548S|APP_ENST00000448388.2_Silent_p.S569S|APP_ENST00000359726.3_Silent_p.S623S|APP_ENST00000439274.2_Silent_p.S623S|APP_ENST00000357903.3_Silent_p.S660S|APP_ENST00000348990.5_Silent_p.S604S|APP_ENST00000346798.3_Silent_p.S679S NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 679 adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) CTTCATATCCTGAGTCATGTC 0.373000 14 45 0 0 1 0 0 POF1B 79983 broad.mit.edu 37 X 84569449 84569449 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:84569449A>T ENST00000262753.4 - 9 1091 c.946T>A c.(946-948)Tac>Aac p.Y316N POF1B_ENST00000373145.3_Missense_Mutation_p.Y316N NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 316 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 TGCAGAATGTAGCGTATTTGC 0.388000 4 4 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 28959060 28959060 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:28959060G>T ENST00000282397.4 - 14 2329 c.2078C>A c.(2077-2079)aCt>aAt p.T693N FLT1_ENST00000541932.1_Missense_Mutation_p.T693N NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 693 Ig-like C2-type 7. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TTTAAACCAAGTGATCTGAGG 0.443000 13 72 0.000151284 0.000178433 1 1 0 FGF5 2250 broad.mit.edu 37 4 81207592 81207592 + Silent SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:81207592C>T ENST00000312465.7 + 3 799 c.573C>T c.(571-573)gcC>gcT p.A191A FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR NM_004464.3 NP_004455.2 P12034 FGF5_HUMAN fibroblast growth factor 5 191 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 GGTATGTGGCCCTGAATAAAA 0.473000 18 63 0 0 1 0 0 FZD8 8325 broad.mit.edu 37 10 35928725 35928725 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:35928725C>A ENST00000374694.1 - 1 1637 c.1633G>T c.(1633-1635)Gcg>Tcg p.A545S NM_031866.2 NP_114072.1 Q9H461 FZD8_HUMAN frizzled family receptor 8 545 axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 ACCACCACCGCGGCGGGCACG 0.677000 27 53 2.44723e-14 4.03571e-14 1 1 0 XBP1 7494 broad.mit.edu 37 22 29191682 29191682 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr22:29191682T>A ENST00000216037.6 - 5 710 c.638A>T c.(637-639)cAg>cTg p.Q213L XBP1_ENST00000403532.3_Missense_Mutation_p.Q218L|XBP1_ENST00000405219.3_Missense_Mutation_p.Q163L|XBP1_ENST00000344347.5_Silent_p.P204P NM_001079539.1|NM_005080.3 NP_001073007.1|NP_005071.2 P17861 XBP1_HUMAN X-box binding protein 1 213 immune response nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|large_intestine(1)|lung(1) 5 AGAACATGACTGGGTCCAAGT 0.483000 21 42 0 0 1 0 0 PDE6A 5145 broad.mit.edu 37 5 149314247 149314247 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:149314247G>C ENST00000255266.5 - 2 628 c.509C>G c.(508-510)aCa>aGa p.T170R NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha 170 GAF 1. cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CTTGTACTCTGTGAGGATGTC 0.473000 7 15 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7608354 7608354 + Silent SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:7608354T>C ENST00000256861.6 - 13 2244 c.2166A>G c.(2164-2166)ggA>ggG p.G722G ITIH5_ENST00000446830.2_Silent_p.G504G|ITIH5_ENST00000298441.6_Silent_p.G508G|ITIH5_ENST00000397146.2_Intron NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 722 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 CAATTAACTCTCCGTTCACTG 0.502000 15 21 0 0 1 0 0 SLC7A13 157724 broad.mit.edu 37 8 87235241 87235241 + Silent SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr8:87235241G>A ENST00000297524.3 - 2 880 c.777C>T c.(775-777)tcC>tcT p.S259S SLC7A13_ENST00000419776.2_Silent_p.S250S|SLC7A13_ENST00000520624.1_5'UTR NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 259 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 CAGTCAGATAGGAAATGTTAA 0.398000 7 67 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70505211 70505211 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:70505211G>T ENST00000310961.5 + 22 4023 c.3605G>T c.(3604-3606)aGg>aTg p.R1202M LRRC7_ENST00000415775.2_Missense_Mutation_p.R481M|LRRC7_ENST00000035383.5_Missense_Mutation_p.R1197M Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1197 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CTTACCCAAAGGAGGCCATTG 0.473000 5 37 0.184627 0.187312 1 1 0 ACTL9 284382 broad.mit.edu 37 19 8808328 8808328 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:8808328G>A ENST00000324436.3 - 1 844 c.724C>T c.(724-726)Ccc>Tcc p.P242S NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 242 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 TGTCCCAGGGGCAGGCCGGCC 0.652000 7 47 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32841351 32841351 + Missense_Mutation SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:32841351T>C ENST00000380250.3 + 55 8487 c.7991T>C c.(7990-7992)tTc>tCc p.F2664S FRY_ENST00000542859.1_Missense_Mutation_p.F34S NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2664 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CCCTCGCCCTTCTTCTCAGCC 0.547000 21 101 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 124097622 124097622 + Translation_Start_Site SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:124097622G>T ENST00000422452.2 - 0 44 TENM1_ENST00000371130.3_De_novo_Start_OutOfFrame NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 AGCAAGCTCAGTTTCATGAAA 0.403000 24 17 2.39556e-15 4.00881e-15 1 1 0 KCNJ8 3764 broad.mit.edu 37 12 21919014 21919014 + Silent SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:21919014G>C ENST00000240662.2 - 3 1263 c.918C>G c.(916-918)acC>acG p.T306T RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 306 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) GTGCTTGTGTGGTGATGCCAG 0.498000 10 43 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30915912 30915912 + Silent SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:30915912A>G ENST00000597505.1 - 33 4775 c.4776T>C c.(4774-4776)tgT>tgC p.C1592C DCDC1_ENST00000406071.2_Silent_p.C330C P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TGGCTGGCTGACATGCCGCTA 0.478000 4 43 0 0 1 0 0 SSH3 54961 broad.mit.edu 37 11 67075183 67075183 + Missense_Mutation SNP C C T rs149465975 TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:67075183C>T ENST00000308127.4 + 7 944 c.766C>T c.(766-768)Cgg>Tgg p.R256W SSH3_ENST00000376757.5_Missense_Mutation_p.R256W|SSH3_ENST00000308298.7_Missense_Mutation_p.R256W|SSH3_ENST00000532181.1_Intron NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 256 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GGAGTCTCTGCGGCCTCCCAG 0.652000 6 52 0 0 1 0 0 MUC15 143662 broad.mit.edu 37 11 26586887 26586887 + Silent SNP T T G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:26586887T>G ENST00000436318.2 - 2 733 c.600A>C c.(598-600)tcA>tcC p.S200S ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Silent_p.S200S|MUC15_ENST00000527569.1_Silent_p.S200S|MUC15_ENST00000529533.1_Silent_p.S200S|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000455601.2_Silent_p.S173S Q8N387 MUC15_HUMAN mucin 15, cell surface associated 173 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 AAGTTGGTTCTGAAGAGAGGA 0.443000 14 39 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76067911 76067911 + RNA SNP A A G rs12101948 by1000genomes TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr15:76067911A>G ENST00000395215.3 + 0 18 CAGGTGCCTGATACGTGACTG 0.547000 4 26 0 0 1 0 0 CA10 56934 broad.mit.edu 37 17 49731019 49731019 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:49731019C>A ENST00000451037.2 - 5 1484 c.544G>T c.(544-546)Gtt>Ttt p.V182F CA10_ENST00000570565.1_Missense_Mutation_p.V107F|CA10_ENST00000285273.4_Missense_Mutation_p.V182F|CA10_ENST00000442502.2_Missense_Mutation_p.V182F|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000340813.6_Missense_Mutation_p.V188F NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 182 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) AATATAGAAACTACCACCAAT 0.408000 13 23 0.00136819 0.00152451 1 1 0 KLF17 128209 broad.mit.edu 37 1 44595232 44595232 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:44595232G>T ENST00000372299.3 + 2 347 c.289G>T c.(289-291)Ggt>Tgt p.G97C KLF17_ENST00000476802.1_3'UTR NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 97 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) GCCTGAGCGTGGTATGAGCTA 0.572000 45 68 2.77807e-22 5.16334e-22 1 1 0 HCN1 348980 broad.mit.edu 37 5 45262750 45262750 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:45262750G>T ENST00000303230.4 - 8 2003 c.1946C>A c.(1945-1947)tCc>tAc p.S649Y NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 649 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 AGACGATGTGGAATTCAGGGT 0.522000 59 54 1.4709e-25 2.80274e-25 1 1 0 GCSAML 148823 broad.mit.edu 37 1 247712502 247712502 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:247712502T>A ENST00000366491.2 + 4 506 c.9T>A c.(7-9)aaT>aaA p.N3K GCSAML_ENST00000536561.1_Missense_Mutation_p.N3K|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366488.4_Missense_Mutation_p.N3K|GCSAML_ENST00000366490.3_Missense_Mutation_p.I124N|GCSAML_ENST00000366489.1_Missense_Mutation_p.N3K germinal center-associated, signaling and motility-like p.N3K(1) AGATGGGAAATTATCTCCTGC 0.468000 6 47 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33952569 33952569 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr15:33952569G>T ENST00000389232.4 + 34 4637 c.4567G>T c.(4567-4569)Gtg>Ttg p.V1523L RYR3_ENST00000415757.3_Missense_Mutation_p.V1523L NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1523 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CGGCTGGGTGGTGCAGTGCCT 0.672000 2 2 0.0784 0.0805309 1 1 0 OR2L3 391192 broad.mit.edu 37 1 248224267 248224267 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:248224267G>T ENST00000359959.3 + 1 284 c.284G>T c.(283-285)gGg>gTg p.G95V OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TCCTTCACTGGGTGTGGGATT 0.433000 33 191 1.69901e-12 2.68001e-12 1 1 0 IFNA16 3449 broad.mit.edu 37 9 21216800 21216800 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:21216800C>A ENST00000380216.1 - 1 510 c.505G>T c.(505-507)Gca>Tca p.A169S NM_002173.2 NP_002164.1 P05015 IFN16_HUMAN interferon, alpha 16 169 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) ATGATTTCTGCTCTGACAACC 0.398000 12 139 0.0135373 0.0144451 1 1 0 FRMPD4 9758 broad.mit.edu 37 X 12736161 12736161 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:12736161C>A ENST00000380682.1 + 16 3722 c.3216C>A c.(3214-3216)gaC>gaA p.D1072E NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 1072 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 CTTCACGAGACAGTCAACACC 0.488000 10 19 7.48243e-07 9.73682e-07 1 1 0 ZBBX 79740 broad.mit.edu 37 3 167039983 167039983 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:167039983C>A ENST00000392766.2 - 12 1245 c.905G>T c.(904-906)tGg>tTg p.W302L ZBBX_ENST00000392764.1_Missense_Mutation_p.W273L|ZBBX_ENST00000307529.5_Missense_Mutation_p.W302L|ZBBX_ENST00000455345.2_Missense_Mutation_p.W302L|ZBBX_ENST00000392767.2_Missense_Mutation_p.W302L|ZBBX_ENST00000469220.1_Intron NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 302 intracellular zinc ion binding p.W302*(2) NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TGGTTCTCTCCAAATTTTCAG 0.274000 3 22 0.115264 0.117598 1 1 0 CCDC64 92558 broad.mit.edu 37 12 120502619 120502619 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:120502619C>T ENST00000397558.2 + 4 845 c.845C>T c.(844-846)aCc>aTc p.T282I CCDC64_ENST00000446727.2_Missense_Mutation_p.T26I NM_207311.2 NP_997194.2 Q6ZP65 BICR1_HUMAN coiled-coil domain containing 64 282 Golgi to secretory granule transport|neuron projection development centrosome dynactin binding|Rab GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTCCAAGGGACCGTGGAGGAG 0.562000 18 94 0 0 1 0 0 SLC10A4 201780 broad.mit.edu 37 4 48486985 48486985 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:48486985C>A ENST00000273861.4 + 2 846 c.627C>A c.(625-627)ctC>ctA p.L209L NM_152679.3 NP_689892.1 Q96EP9 NTCP4_HUMAN solute carrier family 10, member 4 209 integral to membrane bile acid:sodium symporter activity central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 6 TTCTGGCCCTCGTCTTGATGC 0.527000 22 136 1.22574e-08 1.70513e-08 1 1 0 GFRA3 2676 broad.mit.edu 37 5 137589034 137589034 + Missense_Mutation SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:137589034T>C ENST00000274721.3 - 7 1301 c.1055A>G c.(1054-1056)cAc>cGc p.H352R GFRA3_ENST00000378362.3_Missense_Mutation_p.H321R NM_001496.3 NP_001487.2 O60609 GFRA3_HUMAN GDNF family receptor alpha 3 352 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GAGTTGGCTGTGAAAACGCAT 0.562000 6 5 0 0 1 0 0 ALDOB 229 broad.mit.edu 37 9 104192196 104192196 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:104192196G>T ENST00000374855.4 - 3 289 c.165C>A c.(163-165)aaC>aaA p.N55K ALDOB_ENST00000468981.2_Intron NM_000035.3 NP_000026.2 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 55 fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) ACTGCCGGCGGTTCTCTTCAG 0.557000 16 47 2.23348e-06 2.8532e-06 1 1 0 METTL22 79091 broad.mit.edu 37 16 8738460 8738460 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:8738460G>T ENST00000381920.3 + 10 1315 c.1057G>T c.(1057-1059)Gat>Tat p.D353Y METTL22_ENST00000568967.1_3'UTR|METTL22_ENST00000561758.1_Missense_Mutation_p.D297Y NM_024109.2 NP_077014.2 Q9BUU2 MET22_HUMAN methyltransferase like 22 353 methyltransferase activity large_intestine(5)|lung(4) 9 TGAAGCCTACGATCACTTCCG 0.582000 34 199 1.57351e-24 2.97949e-24 1 1 0 CDC25C 995 broad.mit.edu 37 5 137626352 137626352 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:137626352C>A ENST00000323760.6 - 9 1118 c.840G>T c.(838-840)ggG>ggT p.G280G CDC25C_ENST00000357274.3_Silent_p.G237G|CDC25C_ENST00000356505.3_Silent_p.G250G|CDC25C_ENST00000348983.3_Silent_p.G207G|CDC25C_ENST00000514555.1_Silent_p.G250G|CDC25C_ENST00000513970.1_Silent_p.G280G|CDC25C_ENST00000415130.2_Silent_p.G207G NM_001790.3 NP_001781.2 P30307 MPIP3_HUMAN cell division cycle 25C 280 cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CAATCAGGTGCCCCTGGTTAG 0.443000 14 26 1.49906e-05 1.83736e-05 1 1 0 FAT3 120114 broad.mit.edu 37 11 92086881 92086881 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:92086881G>C ENST00000298047.6 + 1 1620 c.1603G>C c.(1603-1605)Gat>Cat p.D535H FAT3_ENST00000409404.2_Missense_Mutation_p.D535H|FAT3_ENST00000541502.1_Missense_Mutation_p.D535H|FAT3_ENST00000525166.1_Missense_Mutation_p.D385H Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 535 Cadherin 5. 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) TGAAGAACTGGATTTTGAATC 0.398000 TCGA Ovarian(4;0.039) 22 38 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14481707 14481707 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:14481707G>T ENST00000344204.4 + 45 6469 c.6445G>T c.(6445-6447)Ggg>Tgg p.G2149W TRIO_ENST00000537187.1_Missense_Mutation_p.G2149W NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2149 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GATGAACGTGGGGCGGCTGCA 0.488000 15 160 2.61681e-11 3.98899e-11 1 1 0 BAIAP3 8938 broad.mit.edu 37 16 1396881 1396881 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:1396881G>T ENST00000324385.5 + 28 2939 c.2781G>T c.(2779-2781)caG>caT p.Q927H BAIAP3_ENST00000397489.1_Missense_Mutation_p.Q909H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.Q892H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.Q864H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.Q869H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.Q856H|BAIAP3_ENST00000564213.1_Intron|BAIAP3_ENST00000397488.2_Missense_Mutation_p.Q909H NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 927 MHD2. G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) TACTCCTCCAGGCCATTCTGC 0.637000 5 12 0.014758 0.0155645 1 1 0 OR7A10 390892 broad.mit.edu 37 19 14952633 14952633 + Silent SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:14952633C>T ENST00000248058.1 - 1 56 c.57G>A c.(55-57)gaG>gaA p.E19E NM_001005190.1 NP_001005190.1 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, member 10 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E19E(1) NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1) 19 Ovarian(108;0.203) ATTCTGGTTCCTCTGAAATTC 0.458000 7 58 0 0 1 0 0 CELA3B 23436 broad.mit.edu 37 1 22313089 22313089 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:22313089C>A ENST00000337107.6 + 7 727 c.708C>A c.(706-708)acC>acA p.T236T CELA3B_ENST00000473526.1_3'UTR NM_007352.2 NP_031378.1 P08861 CEL3B_HUMAN chymotrypsin-like elastase family, member 3B 236 Peptidase S1. cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 ATGGCGTGACCAGCTTTGTTT 0.607000 13 44 4.3838e-07 5.73753e-07 1 1 0 DSG1 1828 broad.mit.edu 37 18 28934532 28934532 + Silent SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr18:28934532C>T ENST00000257192.4 + 15 2585 c.2373C>T c.(2371-2373)ccC>ccT p.P791P DSG1_ENST00000462981.2_Silent_p.P150P|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 791 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) AAACAGAGCCCGTTGTTAGTG 0.507000 29 85 0 0 1 0 0 LRRC32 2615 broad.mit.edu 37 11 76371443 76371443 + Silent SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:76371443C>G ENST00000407242.2 - 3 1436 c.1194G>C c.(1192-1194)ctG>ctC p.L398L LRRC32_ENST00000260061.5_Silent_p.L398L|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Silent_p.L398L|AP001189.4_ENST00000447519.1_RNA NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 398 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 GCAGGTCCCGCAGGGCATTGC 0.642000 6 20 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78511876 78511876 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:78511876C>A ENST00000397909.2 + 14 3012 c.2839C>A c.(2839-2841)Cca>Aca p.P947T NAV3_ENST00000266692.7_Missense_Mutation_p.P947T|NAV3_ENST00000536525.2_Missense_Mutation_p.P947T|NAV3_ENST00000228327.6_Missense_Mutation_p.P947T Q8IVL0 NAV3_HUMAN neuron navigator 3 947 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ACTGAAAAAACCAGAAGAAGA 0.473000 HNSCC(70;0.22) 34 81 1.26612e-14 2.09556e-14 1 1 0 TBX4 9496 broad.mit.edu 37 17 59543214 59543214 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:59543214G>T ENST00000393853.4 + 4 479 c.316G>T c.(316-318)Ggc>Tgc p.G106C TBX4_ENST00000240335.1_Missense_Mutation_p.G106C P57082 TBX4_HUMAN T-box 4 106 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 AAAAGTCACAGGCATGAACCC 0.537000 62 42 1.45723e-30 2.84238e-30 1 1 0 HIVEP1 3096 broad.mit.edu 37 6 12122061 12122061 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:12122061G>A ENST00000379388.2 + 4 2365 c.2033G>A c.(2032-2034)cGt>cAt p.R678H NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 678 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) TACTTTTCACGTTCTGAAAGT 0.502000 7 36 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168114405 168114405 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:168114405G>C ENST00000409728.1 + 11 1537 c.1448G>C c.(1447-1449)tGt>tCt p.C483S XIRP2_ENST00000409043.1_Missense_Mutation_p.C450S|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.C228S|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.C450S|XIRP2_ENST00000420519.1_Missense_Mutation_p.C483S NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CAAATATACTGTAAACCTCAC 0.343000 14 17 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85406830 85406830 + Silent SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr15:85406830A>T ENST00000258888.5 + 11 5231 c.5064A>T c.(5062-5064)gcA>gcT p.A1688A NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1688 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) AAATCTTCGCAGCAGAAGCCC 0.567000 3 22 0 0 1 0 0 OR6K2 81448 broad.mit.edu 37 1 158669566 158669566 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:158669566G>T ENST00000359610.2 - 1 920 c.877C>A c.(877-879)Ctg>Atg p.L293M NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) TTATTCCTCAGGCTATAGATA 0.393000 9 27 0.000274275 0.000315295 1 1 0 ACADL 33 broad.mit.edu 37 2 211059990 211059990 + Nonsense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:211059990G>A ENST00000233710.3 - 9 1284 c.1057C>T c.(1057-1059)Cag>Tag p.Q353* AC006994.2_ENST00000412065.1_RNA NM_001608.3 NP_001599.1 P28330 ACADL_HUMAN acyl-CoA dehydrogenase, long chain 353 carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial matrix long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 Renal(323;0.202) Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621) TCATGCAGCTGGAGACAGTTG 0.403000 7 15 0 0 1 0 0 KIZ-AS1 101929591 broad.mit.edu 37 20 21142961 21142961 + RNA SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr20:21142961G>T ENST00000591761.1 - 0 5142 RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA TAAGTCCAGAGAACAGAACCA 0.443000 36 21 2.42023e-17 4.17329e-17 1 1 0 TPK1 27010 broad.mit.edu 37 7 144364854 144364854 + Silent SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:144364854G>A ENST00000538212.2 - 3 205 c.135C>T c.(133-135)tcC>tcT p.S45S TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000360057.3_Intron|TPK1_ENST00000378099.3_Intron Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 0 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) caagacccttggaagctccac 0.463000 23 28 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118629350 118629350 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:118629350C>A ENST00000336338.5 - 12 1620 c.1555G>T c.(1555-1557)Ggc>Tgc p.G519C NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 519 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) AGGAGGGGGCCTTTGGGCACT 0.388000 29 35 1.55811e-20 2.80955e-20 1 1 0 CDH9 1007 broad.mit.edu 37 5 26886151 26886151 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:26886151G>T ENST00000231021.4 - 10 1726 c.1554C>A c.(1552-1554)ccC>ccA p.P518P NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 518 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P518P(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TGTGACCTCGGGGAGGGTCAT 0.323000 16 155 2.4624e-09 3.50062e-09 1 1 0 TACR2 6865 broad.mit.edu 37 10 71174743 71174743 + Missense_Mutation SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:71174743A>G ENST00000373306.4 - 2 1088 c.545T>C c.(544-546)gTg>gCg p.V182A NM_001057.2 NP_001048.2 P21452 NK2R_HUMAN tachykinin receptor 2 182 excretion|muscle contraction integral to plasma membrane tachykinin receptor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 11 Clonidine(DB00575)|Octreotide(DB00104) CCAGGCCACCACGCACTTGGT 0.622000 19 70 0 0 1 0 0 POF1B 79983 broad.mit.edu 37 X 84562232 84562232 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:84562232G>T ENST00000262753.4 - 11 1246 c.1101C>A c.(1099-1101)gaC>gaA p.D367E POF1B_ENST00000373145.3_Missense_Mutation_p.D367E NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 367 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 TTAATTGAGTGTCTTTGAATG 0.328000 3 3 0.150653 0.153187 1 1 0 RYR2 6262 broad.mit.edu 37 1 237837454 237837454 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:237837454C>A ENST00000366574.2 + 59 8966 c.8649C>A c.(8647-8649)gcC>gcA p.A2883A RYR2_ENST00000360064.6_Silent_p.A2881A|RYR2_ENST00000542537.1_Silent_p.A2867A NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2883 4 X approximate repeats.|Calmodulin-binding (Potential).|Modulator (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAGAGAAAGCCAAGGATAGAG 0.423000 10 32 0.00621372 0.00670933 1 1 0 HAPLN3 145864 broad.mit.edu 37 15 89424732 89424732 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr15:89424732C>A ENST00000359595.3 - 3 563 c.349G>T c.(349-351)Ggc>Tgc p.G117C HAPLN3_ENST00000562889.1_Missense_Mutation_p.G179C NM_178232.2 NP_839946.1 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 117 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 17 Lung NSC(78;0.0392)|all_lung(78;0.077) TGCACGCGGCCTTGGTAGTCC 0.617000 19 70 9.7654e-05 0.000115629 1 1 0 TIAM1 7074 broad.mit.edu 37 21 32638885 32638885 + Missense_Mutation SNP T T G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr21:32638885T>G ENST00000286827.3 - 5 875 c.404A>C c.(403-405)tAc>tCc p.Y135S TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.Y135S NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 135 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 GTCATCCCCGTAAAGCCTGCT 0.532000 12 73 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57188855 57188855 + Silent SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:57188855C>G ENST00000331162.4 - 5 537 c.267G>C c.(265-267)acG>acC p.T89T NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 89 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) AATGGGAACGCGTAACTGAAA 0.363000 13 51 0 0 1 0 0 OR2B11 127623 broad.mit.edu 37 1 247614726 247614726 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:247614726C>G ENST00000318749.6 - 1 582 c.559G>C c.(559-561)Gcc>Ccc p.A187P NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TTGATCACGGCCGGCACCTCA 0.582000 12 52 0 0 1 0 0 SHOX 6473 broad.mit.edu 37 X 591756 591756 + Nonsense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:591756G>T ENST00000381578.1 + 2 815 c.124G>T c.(124-126)Gga>Tga p.G42* SHOX_ENST00000554971.1_Nonsense_Mutation_p.G42*|SHOX_ENST00000334060.3_Nonsense_Mutation_p.G42*|SHOX_ENST00000381575.1_Nonsense_Mutation_p.G42* NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 42 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTTGGAGAGCGGACTGGCGCG 0.612000 25 174 2.44723e-14 4.03571e-14 1 1 0 ATP8B2 57198 broad.mit.edu 37 1 154315331 154315331 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:154315331G>T ENST00000368489.3 + 15 1446 c.1446G>T c.(1444-1446)tgG>tgT p.W482C NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 468 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TCTTATTTTGGGACCCCAGCC 0.507000 9 83 0.0477658 0.0492313 1 1 0 ANK2 287 broad.mit.edu 37 4 114275020 114275020 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:114275020C>T ENST00000357077.4 + 38 5299 c.5246C>T c.(5245-5247)cCc>cTc p.P1749L ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P1716L NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1716 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GAACCCCTTCCCACTGTCAAG 0.448000 74 149 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82436070 82436070 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:82436070G>T ENST00000370728.1 + 18 3439 c.2794G>T c.(2794-2796)Ggt>Tgt p.G932C LPHN2_ENST00000370713.1_Missense_Mutation_p.G919C|LPHN2_ENST00000370723.1_Missense_Mutation_p.G919C|LPHN2_ENST00000370725.1_Missense_Mutation_p.G932C|LPHN2_ENST00000319517.6_Missense_Mutation_p.G919C|LPHN2_ENST00000359929.3_Missense_Mutation_p.G919C|LPHN2_ENST00000394879.1_Missense_Mutation_p.G919C|LPHN2_ENST00000271029.4_Missense_Mutation_p.G932C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.G919C|LPHN2_ENST00000370727.1_Missense_Mutation_p.G932C|LPHN2_ENST00000370717.2_Missense_Mutation_p.G932C|LPHN2_ENST00000335786.5_Missense_Mutation_p.G932C|LPHN2_ENST00000370730.1_Missense_Mutation_p.G932C|LPHN2_ENST00000370721.1_Missense_Mutation_p.G857C O95490 LPHN2_HUMAN latrophilin 2 932 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GTGCCTAGAAGGTGTGCAGCT 0.383000 9 67 7.48243e-07 9.73682e-07 1 1 0 ZNF341 84905 broad.mit.edu 37 20 32357950 32357950 + Nonsense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr20:32357950G>T ENST00000375200.1 + 10 1839 c.1474G>T c.(1474-1476)Gag>Tag p.E492* ZNF341_ENST00000342427.2_Nonsense_Mutation_p.E485* Q9BYN7 ZN341_HUMAN zinc finger protein 341 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 CACATTTCTGGAGCACATCAA 0.592000 20 17 1.64113e-05 2.00878e-05 1 1 0 CRX 1406 broad.mit.edu 37 19 48337737 48337737 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:48337737G>T ENST00000221996.7 + 2 243 c.37G>T c.(37-39)Gtc>Ttc p.V13F TPRX2P_ENST00000535362.1_Missense_Mutation_p.V13F|CRX_ENST00000539067.1_Missense_Mutation_p.V13F NM_000554.4 NP_000545.1 O43186 CRX_HUMAN cone-rod homeobox 13 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1) 23 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) CCACTATTCTGTCAACGCCTT 0.592000 7 36 0.000274275 0.000315295 1 1 0 HOXD13 3239 broad.mit.edu 37 2 176958368 176958368 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:176958368G>T ENST00000392539.3 + 1 750 c.750G>T c.(748-750)caG>caT p.Q250H NM_000523.3 NP_000514.2 P35453 HXD13_HUMAN homeobox D13 250 skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) ACCAGCCACAGGGGTCCCACT 0.577000 T NUP98 AML* 23 50 1.64293e-13 2.6705e-13 1 1 0 AP3S2 10239 broad.mit.edu 37 15 90378816 90378816 + Silent SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr15:90378816T>A ENST00000336418.4 - 6 905 c.513A>T c.(511-513)ccA>ccT p.P171P AP3S2_ENST00000558011.1_Silent_p.P183P|AP3S2_ENST00000560940.1_Intron|AP3S2_ENST00000560771.1_5'UTR|C15orf38-AP3S2_ENST00000398333.3_Silent_p.P372P NM_005829.4 NP_005820.1 adaptor-related protein complex 3, sigma 2 subunit p.P171P(1) NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1) 6 Lung NSC(78;0.0181)|all_lung(78;0.0384) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223) GAGGAATCTCTGGCAGGTTGA 0.483000 18 62 0 0 1 0 0 DBH 1621 broad.mit.edu 37 9 136523515 136523515 + Silent SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:136523515G>A ENST00000393056.2 + 12 1812 c.1800G>A c.(1798-1800)caG>caA p.Q600Q NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 600 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CCACCAGCCAGGGCCGAAGCC 0.662000 9 75 0 0 1 0 0 SLC22A12 116085 broad.mit.edu 37 11 64358937 64358937 + Translation_Start_Site SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:64358937C>A ENST00000377574.1 + 0 656 SLC22A12_ENST00000336464.7_De_novo_Start_OutOfFrame|SLC22A12_ENST00000377572.1_De_novo_Start_OutOfFrame|SLC22A12_ENST00000473690.1_De_novo_Start_OutOfFrame|SLC22A12_ENST00000377567.2_De_novo_Start_OutOfFrame NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 TGGGCACCACCGTGGGGGAAA 0.637000 16 20 6.72482e-11 1.01151e-10 1 1 0 RGS7BP 401190 broad.mit.edu 37 5 63803605 63803605 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:63803605C>T ENST00000334025.2 + 2 559 c.233C>T c.(232-234)tCg>tTg p.S78L RGS7BP_ENST00000508162.1_Intron NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 78 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) GGGGATGTCTCGGTCAGCTGC 0.498000 6 66 0 0 1 0 0 ENOSF1 55556 broad.mit.edu 37 18 694274 694274 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr18:694274C>G ENST00000383578.3 - 3 328 c.124G>C c.(124-126)Gac>Cac p.D42H ENOSF1_ENST00000251101.7_Missense_Mutation_p.D124H|ENOSF1_ENST00000340116.7_Missense_Mutation_p.D145H|ENOSF1_ENST00000539164.1_Missense_Mutation_p.D124H|ENOSF1_ENST00000580982.1_Missense_Mutation_p.G85A NM_001126123.3 NP_001119595.1 Q7L5Y1 ENOF1_HUMAN enolase superfamily member 1 124 cellular amino acid catabolic process mitochondrion isomerase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 10 GCCCACAAGTCCCACACCGCG 0.542000 5 31 0 0 1 0 0 MOS 4342 broad.mit.edu 37 8 57025932 57025932 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr8:57025932G>T ENST00000311923.1 - 1 609 c.610C>A c.(610-612)Ccc>Acc p.P204T NM_005372.1 NP_005363.1 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene homolog 204 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2) 22 Epithelial(17;0.00117)|all cancers(17;0.00879) ATGTTCGCGGGCTTCAGGTCC 0.478000 7 63 8.12818e-05 9.64956e-05 1 1 0 SIGLEC10 89790 broad.mit.edu 37 19 51918291 51918291 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:51918291C>G ENST00000356298.5 - 8 1518 c.1402G>C c.(1402-1404)Gcc>Ccc p.A468P SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.A468P|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.A410P NM_033130.4 NP_149121.2 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 468 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GCCGGGCTGGCCTGGGAGGAG 0.701000 6 27 0 0 1 0 0 APCDD1L 164284 broad.mit.edu 37 20 57036289 57036289 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr20:57036289C>T ENST00000371149.3 - 4 1293 c.1063G>A c.(1063-1065)Gtc>Atc p.V355I APCDD1L_ENST00000491015.1_5'UTR|APCDD1L_ENST00000439429.1_Missense_Mutation_p.V366I NM_153360.1 NP_699191.1 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 1-like 355 integral to membrane large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1) 18 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) GCCCGTGTGACCTCAAACACC 0.687000 11 46 0 0 1 0 0 MPP4 58538 broad.mit.edu 37 2 202549805 202549805 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:202549805C>A ENST00000409474.3 - 7 763 c.556G>T c.(556-558)Ggg>Tgg p.G186W MPP4_ENST00000409143.1_Missense_Mutation_p.G159W|MPP4_ENST00000315506.7_Missense_Mutation_p.G186W|MPP4_ENST00000447335.2_Missense_Mutation_p.G186W|MPP4_ENST00000428900.2_Missense_Mutation_p.G186W|MPP4_ENST00000396886.3_Missense_Mutation_p.G142W|MPP4_ENST00000359962.5_Missense_Mutation_p.G186W NM_033066.2 NP_149055.1 Q96JB8 MPP4_HUMAN membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) 186 PDZ. cytoplasm protein binding kidney(1)|lung(11) 12 TCCGCCAGCCCACCGTGGATG 0.522000 5 6 0.000602214 0.000682761 1 1 0 BCAN 63827 broad.mit.edu 37 1 156618606 156618606 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:156618606C>T ENST00000329117.4 + 6 1352 c.1016C>T c.(1015-1017)aCt>aTt p.T339I RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.T339I NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 339 Link 2. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCCAACCAGACTGGCTTCCCC 0.582000 29 184 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152326307 152326307 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:152326307C>T ENST00000388718.5 - 3 4027 c.3955G>A c.(3955-3957)Gga>Aga p.G1319R FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1319 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGGTATCTCCTCTCTGTCCA 0.473000 47 198 0 0 1 0 0 DLK1 8788 broad.mit.edu 37 14 101200779 101200779 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:101200779G>A ENST00000341267.4 + 5 940 c.698G>A c.(697-699)tGt>tAt p.C233Y DLK1_ENST00000331224.6_Intron NM_003836.5 NP_003827.3 P80370 DLK1_HUMAN delta-like 1 homolog (Drosophila) 233 EGF-like 6. multicellular organismal development extracellular space|integral to membrane|soluble fraction breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1) 29 Melanoma(154;0.155) AGCTACGAGTGTCTGTGCAAG 0.657000 22 75 0 0 1 0 0 PDZD3 79849 broad.mit.edu 37 11 119059376 119059376 + Nonsense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:119059376G>T ENST00000531114.1 + 7 1834 c.1285G>T c.(1285-1287)Gag>Tag p.E429* PDZD3_ENST00000392817.2_Nonsense_Mutation_p.E429*|PDZD3_ENST00000355547.5_Nonsense_Mutation_p.E363*|PDZD3_ENST00000525131.1_Nonsense_Mutation_p.E350*|PDZD3_ENST00000322712.4_Nonsense_Mutation_p.E349* Q86UT5 NHRF4_HUMAN PDZ domain containing 3 429 cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport apical part of cell|brush border|cytosol|membrane fraction|subapical complex guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 14 all_hematologic(175;0.0977) Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.52e-05) CCTCTTCTTGGAGAACACAGA 0.627000 33 59 1.06647e-15 1.79794e-15 1 1 0 VPS41 27072 broad.mit.edu 37 7 38768292 38768292 + Splice_Site SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:38768292C>T ENST00000310301.4 - 26 2413 c.2359_splice c.e26+1 p.E787_splice VPS41_ENST00000395969.2_Splice_Site_p.E762_splice NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 787 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 TTTTACCCACCATCAACAAGA 0.413000 28 20 0 0 1 0 0 UXS1 80146 broad.mit.edu 37 2 106739513 106739513 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:106739513C>A ENST00000283148.7 - 9 769 c.672G>T c.(670-672)tgG>tgT p.W224C UXS1_ENST00000428048.2_Missense_Mutation_p.W63C|UXS1_ENST00000409032.1_Missense_Mutation_p.W51C|UXS1_ENST00000409501.3_Missense_Mutation_p.W219C|UXS1_ENST00000540130.1_Missense_Mutation_p.W162C NM_001253875.1|NM_025076.4 NP_001240804.1|NP_079352.2 Q8NBZ7 UXS1_HUMAN UDP-glucuronate decarboxylase 1 219 cellular metabolic process Golgi cisterna membrane|integral to membrane coenzyme binding|UDP-glucuronate decarboxylase activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 17 TCACGTGGCCCCAGTAATCCT 0.463000 5 69 0.000602214 0.000682761 1 1 0 CUX2 23316 broad.mit.edu 37 12 111758261 111758261 + Silent SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:111758261T>C ENST00000261726.6 + 17 2602 c.2448T>C c.(2446-2448)tcT>tcC p.S816S NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 816 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 CTGGCTACTCTGGCCAGCCCA 0.756000 23 32 0 0 1 0 0 TRAV21 28662 broad.mit.edu 37 14 22521026 22521026 + RNA SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:22521026G>T ENST00000390449.3 + 0 54 TTCTGAACAGGGGTGAGCAGC 0.408000 11 61 0.000673444 0.000762564 1 1 0 LRRC7 57554 broad.mit.edu 37 1 70504160 70504160 + Nonsense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:70504160A>T ENST00000310961.5 + 22 2972 c.2554A>T c.(2554-2556)Aga>Tga p.R852* LRRC7_ENST00000415775.2_Nonsense_Mutation_p.R131*|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.R847* Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 847 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GAATTGGACCAGAACCCCTAG 0.488000 27 25 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89086878 89086878 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr8:89086878C>A ENST00000286614.6 - 7 1458 c.1177G>T c.(1177-1179)Gat>Tat p.D393Y MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 393 Hemopexin-like 2. collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 TAAACTGCATCGATACTAGGA 0.408000 28 41 3.65163e-15 6.08828e-15 1 1 0 ZNF648 127665 broad.mit.edu 37 1 182026998 182026998 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:182026998C>A ENST00000339948.3 - 2 355 c.148G>T c.(148-150)Gac>Tac p.D50Y NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 50 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 GCCACCGGGTCAGCGGTGCCC 0.552000 12 97 3.07112e-06 3.89037e-06 1 1 0 THSD7B 80731 broad.mit.edu 37 2 137748480 137748480 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:137748480G>A ENST00000413152.2 + 1 19 c.19G>A c.(19-21)Gag>Aag p.E7K THSD7B_ENST00000409968.1_Intron|THSD7B_ENST00000272643.3_Intron NM_001080427.1 NP_001073896.1 thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CACAGCAGATGAGGTGGTTTT 0.393000 3 7 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70859932 70859932 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:70859932G>T ENST00000322773.4 + 30 2134 c.2032G>T c.(2032-2034)Gac>Tac p.D678Y COL19A1_ENST00000393344.1_Missense_Mutation_p.D300Y NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 678 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 CCCCCCAGGTGACCCGGTATG 0.483000 44 37 8.20599e-20 1.45652e-19 1 1 0 PCDHGA6 56109 broad.mit.edu 37 5 140754689 140754689 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:140754689G>T ENST00000517434.1 + 1 1039 c.1039G>T c.(1039-1041)Gtg>Ttg p.V347L PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTACCAGAAGTGGTTGTTAC 0.458000 31 58 1.75199e-13 2.83253e-13 1 1 0 PRR23B 389151 broad.mit.edu 37 3 138739142 138739142 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:138739142C>A ENST00000329447.5 - 1 626 c.362G>T c.(361-363)gGg>gTg p.G121V MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 121 p.G121V(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CACTTCCAGCCCGGCAGACGA 0.637000 18 52 3.32936e-07 4.38914e-07 1 1 0 LRP12 29967 broad.mit.edu 37 8 105503667 105503667 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr8:105503667C>A ENST00000276654.5 - 7 1922 c.1814G>T c.(1813-1815)cGt>cTt p.R605L LRP12_ENST00000424843.2_Missense_Mutation_p.R586L|LRP12_ENST00000518375.1_5'UTR NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 605 endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) ATTAAAAATACGGTTCCAAAT 0.453000 7 56 0.00307968 0.00338989 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1272821 1272821 + Missense_Mutation SNP G G A rs56353324 TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:1272821G>A ENST00000447027.1 + 31 14778 c.14720G>A c.(14719-14721)cGc>cAc p.R4907H MUC5B_ENST00000529681.1_Missense_Mutation_p.R4904H Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4904 Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGGACCACCCGCACCCCTGCA 0.652000 8 24 0 0 1 0 0 TBX5 6910 broad.mit.edu 37 12 114803928 114803928 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:114803928G>T ENST00000526441.1 - 7 1023 c.1024C>A c.(1024-1026)Ctt>Att p.L342I TBX5_ENST00000349716.5_Intron|TBX5_ENST00000405440.2_Intron|TBX5_ENST00000310346.4_Intron Q99593 TBX5_HUMAN T-box 5 0 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) GAAAGGAAAAGGTAAGAAAGA 0.398000 11 24 1.58986e-06 2.03673e-06 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77766177 77766177 + Silent SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr8:77766177T>C ENST00000521891.2 + 10 7468 c.7020T>C c.(7018-7020)gaT>gaC p.D2340D ZFHX4_ENST00000518282.1_Silent_p.D2314D|ZFHX4_ENST00000050961.6_Silent_p.D2295D|ZFHX4_ENST00000455469.2_Silent_p.D2295D NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2295 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) AGGATGAAGATGATGATGCCC 0.443000 HNSCC(33;0.089) 70 78 0 0 1 0 0 TTF2 8458 broad.mit.edu 37 1 117633165 117633165 + Silent SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:117633165C>T ENST00000369466.3 + 15 2552 c.2508C>T c.(2506-2508)ccC>ccT p.P836P NM_003594.3 NP_003585.3 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase II 836 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) TGATACTGCCCCAGCGTAAAT 0.358000 7 17 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210560541 210560541 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:210560541A>T ENST00000360351.4 + 7 4153 c.3647A>T c.(3646-3648)gAt>gTt p.D1216V MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.D1212V|MAP2_ENST00000199940.6_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1216 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) ACGCCTTCTGATGTTGCAGAG 0.448000 4 22 0 0 1 0 0 ZAP70 7535 broad.mit.edu 37 2 98354342 98354342 + Silent SNP C C T rs11889573 byFrequency TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:98354342C>T ENST00000264972.5 + 12 1820 c.1605C>T c.(1603-1605)taC>taT p.Y535Y ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.Y228Y|ZAP70_ENST00000442208.1_Silent_p.Y409Y NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 535 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 CCTTGTCCTACGGCCAGAAGC 0.627000 19 144 0 0 1 0 0 DDX39B 7919 broad.mit.edu 37 6 31498560 31498560 + Silent SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:31498560G>C ENST00000417556.2 - 11 1941 c.1311C>G c.(1309-1311)tcC>tcG p.S437S DDX39B_ENST00000396172.1_Silent_p.S422S|DDX39B_ENST00000415382.2_Silent_p.S344S|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000376177.2_3'UTR|DDX39B_ENST00000458640.1_Silent_p.S422S|DDX39B_ENST00000462421.1_Intron Q13838 DX39B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 422 intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 ACTCACTGTAGGAGGAGATGT 0.453000 19 25 0 0 1 0 0 OR2T11 127077 broad.mit.edu 37 1 248790066 248790066 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:248790066C>A ENST00000330803.2 - 1 425 c.364G>T c.(364-366)Gct>Tct p.A122S NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTACAGACAGCCACGTAGCAG 0.537000 8 81 0.000157383 0.000183952 1 1 0 SYCP2L 221711 broad.mit.edu 37 6 10959036 10959036 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:10959036C>A ENST00000283141.6 + 26 2479 c.2183C>A c.(2182-2184)cCg>cAg p.P728Q NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 728 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) AGAAAGCGTCCGTTTAATTCA 0.328000 13 8 1.05317e-09 1.53327e-09 1 1 0 NLRP13 126204 broad.mit.edu 37 19 56407339 56407339 + Nonsense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:56407339G>T ENST00000342929.3 - 11 3103 c.3104C>A c.(3103-3105)tCg>tAg p.S1035* NLRP13_ENST00000588751.1_Intron NM_176810.2 NP_789780.2 Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 1035 KALKKSTCRLQKLG -> FKKTCTM (in Ref. 2; DAA01241). ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CCTGCATGTCGACTTTTTCAA 0.463000 42 96 1.61004e-24 3.0423e-24 1 1 0 SMR3A 26952 broad.mit.edu 37 4 71227876 71227876 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:71227876C>A ENST00000226460.4 + 2 140 c.44C>A c.(43-45)gCg>gAg p.A15E NM_012390.3 NP_036522.3 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3A 15 extracellular region endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) GCTCTTGCAGCGTGTTTCACA 0.348000 20 60 8.24728e-16 1.39558e-15 1 1 0 LYG2 254773 broad.mit.edu 37 2 99858900 99858900 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:99858900G>A ENST00000333017.2 - 6 678 c.566C>T c.(565-567)cCa>cTa p.P189L LYG2_ENST00000409238.1_Missense_Mutation_p.P189L NM_175735.3 NP_783862.2 Q86SG7 LYG2_HUMAN lysozyme G-like 2 189 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1) 12 TATGTCCGATGGGGTGGCAAT 0.418000 32 75 0 0 1 0 0 GFAP 2670 broad.mit.edu 37 17 42990679 42990679 + Silent SNP C C T rs147404772 byFrequency TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:42990679C>T ENST00000253408.5 - 4 803 c.738G>A c.(736-738)gcG>gcA p.A246A GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Silent_p.A246A|GFAP_ENST00000435360.2_Silent_p.A246A NM_002055.4 NP_002046.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 246 Coil 2A.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) TGTTGCTGGACGCCATTGCCT 0.612000 13 123 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058361 11058361 + RNA SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr21:11058361C>A ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTATAAAACCTTGAAAAGGA 0.353000 4 49 0.00024832 0.000288013 1 1 0 BRIP1 83990 broad.mit.edu 37 17 59870991 59870991 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:59870991C>G ENST00000259008.2 - 10 1707 c.1440G>C c.(1438-1440)atG>atC p.M480I BRIP1_ENST00000577598.1_Missense_Mutation_p.M480I NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 480 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 TGGTGATACCCATTTTGTGTA 0.338000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 4 1 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79322953 79322953 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:79322953G>C ENST00000428286.1 - 8 4360 c.3160C>G c.(3160-3162)Cgt>Ggt p.R1054G PRUNE2_ENST00000376718.3_Missense_Mutation_p.R1413G Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1413 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TGCACATCACGGGAGTCTAGA 0.453000 11 14 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140596013 140596013 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:140596013A>T ENST00000341948.4 + 1 2505 c.2318A>T c.(2317-2319)aAc>aTc p.N773I NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 773 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATTATCCCCAACTTCCCTCCC 0.488000 25 49 0 0 1 0 0 OR10V1 390201 broad.mit.edu 37 11 59481116 59481116 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:59481116A>T ENST00000307552.2 - 1 221 c.203T>A c.(202-204)gTt>gAt p.V68D STX3_ENST00000300150.7_5'UTR NM_001005324.1 NP_001005324.1 Q8NGI7 O10V1_HUMAN olfactory receptor, family 10, subfamily V, member 1 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1) 16 GATTTCTAGAACTGCCAGATT 0.473000 3 24 0 0 1 0 0 ZIC1 7545 broad.mit.edu 37 3 147131172 147131172 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:147131172C>T ENST00000282928.4 + 3 1907 c.1178C>T c.(1177-1179)cCt>cTt p.P393L NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 393 Ser-rich. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 GGCTCGCAGCCTTCGCCGGCC 0.617000 14 82 0 0 1 0 0 MYLK2 85366 broad.mit.edu 37 20 30408087 30408087 + Missense_Mutation SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr20:30408087A>G ENST00000375994.2 + 2 484 c.211A>G c.(211-213)Act>Gct p.T71A MYLK2_ENST00000375985.4_Missense_Mutation_p.T71A Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 71 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CCAACCCTCAACTAGCAGCCA 0.672000 33 26 0 0 1 0 0 CAD 790 broad.mit.edu 37 2 27462235 27462235 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:27462235A>T ENST00000264705.4 + 33 5452 c.5290A>T c.(5290-5292)Atg>Ttg p.M1764L CAD_ENST00000403525.1_Missense_Mutation_p.M1701L NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1764 DHOase (dihydroorotase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) TCCCAGCCACATGCCCTTCTC 0.572000 4 33 0 0 1 0 0 IARS2 55699 broad.mit.edu 37 1 220310249 220310249 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:220310249G>T ENST00000366922.1 + 16 2160 c.1829G>T c.(1828-1830)gGa>gTa p.G610V IARS2_ENST00000302637.5_Missense_Mutation_p.G682V Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 682 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) GTTAATGGAGGACAAGTAGGT 0.348000 11 9 2.80697e-09 3.98423e-09 1 1 0 INPP4B 8821 broad.mit.edu 37 4 143094859 143094859 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:143094859C>A ENST00000513000.1 - 17 1718 c.1285G>T c.(1285-1287)Gac>Tac p.D429Y INPP4B_ENST00000308502.4_Missense_Mutation_p.D429Y|INPP4B_ENST00000509777.1_Missense_Mutation_p.D429Y|INPP4B_ENST00000508116.1_Missense_Mutation_p.D429Y|INPP4B_ENST00000262992.4_Missense_Mutation_p.D429Y NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 429 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) AGCAGTAGGTCTGCATGGGTT 0.383000 16 30 4.7546e-09 6.70673e-09 1 1 0 PDZRN3 23024 broad.mit.edu 37 3 73433089 73433089 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:73433089G>T ENST00000263666.4 - 10 2742 c.2628C>A c.(2626-2628)caC>caA p.H876Q PDZRN3_ENST00000535920.1_Missense_Mutation_p.H598Q|PDZRN3_ENST00000466780.1_Missense_Mutation_p.H533Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.H593Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.H533Q NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 876 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) AGTGCTGGGCGTGCGCCGGGA 0.647000 16 72 6.94344e-10 1.01905e-09 1 1 0 CYP2D7 1564 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr22:42538870A>C ENST00000424775.1 - 0 440 CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 6 51 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53420802 53420802 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:53420802G>T ENST00000377942.3 - 1 1973 c.1770C>A c.(1768-1770)tcC>tcA p.S590S PCDH8_ENST00000338862.4_Silent_p.S590S NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 590 Cadherin 5. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GGGCGCTGCTGGAAAGCTGAG 0.652000 5 8 0.014758 0.0155645 1 1 0 KRTAP6-1 337966 broad.mit.edu 37 21 31986133 31986133 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr21:31986133C>A ENST00000329122.2 - 1 116 c.91G>T c.(91-93)Ggc>Tgc p.G31C NM_181602.1 NP_853633.1 Q3LI64 KRA61_HUMAN keratin associated protein 6-1 31 cytosol|intermediate filament breast(2)|endometrium(1)|lung(7) 10 TAGCCACAGCCCAGGCCTCCA 0.597000 48 152 7.88023e-25 1.4984e-24 1 1 0 VPS35 55737 broad.mit.edu 37 16 46714695 46714695 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:46714695C>A ENST00000299138.7 - 5 452 c.394G>T c.(394-396)Gat>Tat p.D132Y NM_018206.4 NP_060676.2 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 homolog (S. cerevisiae) 132 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1) 23 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TCTACCAAATCTTTCAAAATA 0.388000 7 32 0.0381472 0.0394522 1 1 0 SPAG16 79582 broad.mit.edu 37 2 214794716 214794716 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:214794716C>A ENST00000331683.5 + 12 1342 c.1247C>A c.(1246-1248)aCt>aAt p.T416N SPAG16_ENST00000374309.3_Missense_Mutation_p.T322N NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 416 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) AGTGGTGACACTACAGTTAAA 0.398000 22 50 2.89027e-11 4.39844e-11 1 1 0 IGF2BP1 10642 broad.mit.edu 37 17 47115590 47115590 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:47115590C>A ENST00000290341.3 + 6 796 c.462C>A c.(460-462)atC>atA p.I154I IGF2BP1_ENST00000431824.2_Intron NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 154 RRM 2. CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TCTCCTACATCCCCGATGAGC 0.612000 28 80 5.61819e-17 9.61452e-17 1 1 0 CACNA2D1 781 broad.mit.edu 37 7 81765972 81765972 + Silent SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:81765972G>A ENST00000356860.3 - 5 713 c.375C>T c.(373-375)taC>taT p.Y125Y CACNA2D1_ENST00000423588.1_Silent_p.Y125Y|CACNA2D1_ENST00000356253.5_Silent_p.Y125Y NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 125 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CCTTTGCATTGTAGTAGACAA 0.254000 3 2 0 0 1 0 0 TTC25 83538 broad.mit.edu 37 17 40094864 40094864 + RNA SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:40094864C>T ENST00000591658.1 + 0 748 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 cytoplasm protein binding p.T227M(1) endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) CTCATCATGACGGGCATCAAC 0.582000 12 88 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182072 57182072 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:57182072A>T ENST00000504228.1 + 6 2509 c.2404A>T c.(2404-2406)Agc>Tgc p.S802C KIAA1211_ENST00000264229.6_Missense_Mutation_p.S802C|KIAA1211_ENST00000541073.1_Missense_Mutation_p.S795C Q6ZU35 K1211_HUMAN KIAA1211 802 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CCTTGTCCCAAGCCTTCCTTA 0.592000 11 59 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16287817 16287817 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr22:16287817C>G ENST00000343518.6 - 1 120 c.69G>C c.(67-69)aaG>aaC p.K23N NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 23 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 ACTTGCCCATCTTGCTTCTGA 0.577000 25 238 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140596014 140596014 + Silent SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:140596014C>T ENST00000341948.4 + 1 2506 c.2319C>T c.(2317-2319)aaC>aaT p.N773N NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 773 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTATCCCCAACTTCCCTCCCC 0.493000 25 49 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61747843 61747843 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:61747843G>T ENST00000577390.1 - 10 2510 c.1556C>A c.(1555-1557)gCc>gAc p.A519D CDH8_ENST00000580044.1_5'UTR|CDH8_ENST00000299345.6_Missense_Mutation_p.A519D|CDH8_ENST00000577730.1_Missense_Mutation_p.A519D NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 519 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TTTGTCCATGGCGCTAACAGT 0.388000 13 30 5.50884e-06 6.88225e-06 1 1 0 TBX10 347853 broad.mit.edu 37 11 67401770 67401770 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:67401770G>A ENST00000335385.3 - 4 526 c.439C>T c.(439-441)Cgc>Tgc p.R147C NM_005995.4 NP_005986.2 O75333 TBX10_HUMAN T-box 10 147 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|lung(4)|ovary(1) 7 AAGTGCACGCGGCCAGGTGTG 0.637000 24 75 0 0 1 0 0 KLHL5 51088 broad.mit.edu 37 4 39109240 39109240 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:39109240G>T ENST00000261425.3 + 9 1729 c.1577G>T c.(1576-1578)tGg>tTg p.W526L KLHL5_ENST00000504108.1_Missense_Mutation_p.W572L|KLHL5_ENST00000261426.5_Missense_Mutation_p.W511L|KLHL5_ENST00000508137.2_Missense_Mutation_p.W385L|KLHL5_ENST00000381930.3_Missense_Mutation_p.W572L|KLHL5_ENST00000359687.2_Missense_Mutation_p.W572L NM_001007075.2 NP_001007076.1 Q96PQ7 KLHL5_HUMAN kelch-like family member 5 572 cytoplasm|cytoskeleton actin binding endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 CATGATGGCTGGAGCTATCTG 0.502000 6 43 0.00198382 0.00219698 1 1 0 DNAH8 1769 broad.mit.edu 37 6 38885814 38885814 + Silent SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:38885814T>C ENST00000359357.3 + 68 10025 c.9771T>C c.(9769-9771)ttT>ttC p.F3257F DNAH8_ENST00000441566.1_Silent_p.F3221F|DNAH8_ENST00000449981.2_Silent_p.F3474F dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ATTATACTTTTGAAAGTGCCA 0.408000 3 28 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100686490 100686490 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:100686490A>T ENST00000306151.4 + 3 11857 c.11793A>T c.(11791-11793)gaA>gaT p.E3931D NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3931 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) TGATCACAGAAGGAAGCACAC 0.483000 37 63 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454588 84454588 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:84454588C>T ENST00000377084.2 - 1 1940 c.1055G>A c.(1054-1056)gGg>gAg p.G352E NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 352 LRRNT 2. integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TAAACCCGACCCTGGGATGTG 0.537000 15 60 0 0 1 0 0 PLAT 5327 broad.mit.edu 37 8 42046466 42046466 + Nonsense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr8:42046466G>C ENST00000220809.4 - 4 495 c.239C>G c.(238-240)tCa>tGa p.S80* PLAT_ENST00000524009.1_Nonsense_Mutation_p.S80*|PLAT_ENST00000429710.2_Nonsense_Mutation_p.S80*|PLAT_ENST00000429089.2_Nonsense_Mutation_p.S80*|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000270189.6_Nonsense_Mutation_p.S80*|PLAT_ENST00000519510.1_Nonsense_Mutation_p.S80* NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 80 Fibronectin type-I. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GACAGGCACTGAGTGGCACTG 0.577000 48 131 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81744537 81744537 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:81744537C>T ENST00000555447.1 - 6 1530 c.1118G>A c.(1117-1119)aGc>aAc p.S373N STON2_ENST00000267540.2_Missense_Mutation_p.S373N NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 373 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) CTGGGTTTTGCTTGAATCATC 0.453000 20 62 0 0 1 0 0 TMTC1 83857 broad.mit.edu 37 12 29904601 29904601 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:29904601C>T ENST00000256062.5 - 5 1085 c.612G>A c.(610-612)atG>atA p.M204I TMTC1_ENST00000552618.1_Missense_Mutation_p.M312I|TMTC1_ENST00000539277.1_Missense_Mutation_p.M312I|TMTC1_ENST00000381224.2_Missense_Mutation_p.M204I|TMTC1_ENST00000551659.1_Missense_Mutation_p.M312I NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 312 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) cccagtacctcatcatggacc 0.572000 10 45 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26165077 26165077 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr22:26165077C>A ENST00000335473.7 + 4 1444 c.1194C>A c.(1192-1194)ccC>ccA p.P398P MYO18B_ENST00000407587.2_Silent_p.P398P|MYO18B_ENST00000536101.1_Silent_p.P398P NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 398 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TGGGGCAACCCCAGGGTAAGT 0.587000 5 14 1.23904e-05 1.52484e-05 1 1 0 STYXL1 51657 broad.mit.edu 37 7 75630299 75630299 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:75630299G>C ENST00000451157.1 - 8 888 c.719C>G c.(718-720)tCt>tGt p.S240C STYXL1_ENST00000359697.3_Missense_Mutation_p.S240C|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000431581.1_Missense_Mutation_p.S240C|STYXL1_ENST00000340062.5_Missense_Mutation_p.S144C|STYXL1_ENST00000248600.1_Missense_Mutation_p.S240C Q9Y6J8 STYL1_HUMAN serine/threonine/tyrosine interacting-like 1 240 Tyrosine-protein phosphatase. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 10 CAGAATGACAGAGCCAAGGTG 0.547000 12 59 0 0 1 0 0 OLFM4 10562 broad.mit.edu 37 13 53602980 53602980 + Silent SNP C C A rs138499950 TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:53602980C>A ENST00000219022.2 + 1 87 c.9C>A c.(7-9)ccC>ccA p.P3P NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 3 cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) AGATGAGGCCCGGCCTCTCAT 0.587000 37 71 3.62531e-18 6.2751e-18 1 1 0 AXDND1 126859 broad.mit.edu 37 1 179347789 179347789 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:179347789A>T ENST00000367618.3 + 5 779 c.392A>T c.(391-393)tAc>tTc p.Y131F AXDND1_ENST00000457238.2_Missense_Mutation_p.Y131F|AXDND1_ENST00000461179.2_3'UTR NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 131 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 TCTTTTCTGTACGATGTAACA 0.393000 5 40 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54304538 54304538 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:54304538C>T ENST00000324134.6 - 7 2867 c.2699G>A c.(2698-2700)gGg>gAg p.G900E NLRP12_ENST00000535162.1_Missense_Mutation_p.G900E|NLRP12_ENST00000345770.5_Missense_Mutation_p.G901E|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000391775.3_Missense_Mutation_p.G900E|NLRP12_ENST00000391773.1_Missense_Mutation_p.G901E|NLRP12_ENST00000354278.3_Intron NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 900 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CAGCAGCACCCCGAGGTCCCC 0.622000 7 42 0 0 1 0 0 CLCN2 1181 broad.mit.edu 37 3 184076836 184076836 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:184076836C>A ENST00000265593.4 - 2 318 c.147G>T c.(145-147)tgG>tgT p.W49C EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.W49C|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.W49C|CLCN2_ENST00000457512.1_Missense_Mutation_p.W49C NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 49 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) GGGGACCTTTCCAGGGTTCAG 0.642000 26 50 4.26978e-12 6.61998e-12 1 1 0 SEC23IP 11196 broad.mit.edu 37 10 121674283 121674283 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:121674283G>T ENST00000369075.3 + 7 1426 c.1354G>T c.(1354-1356)Ggc>Tgc p.G452C SEC23IP_ENST00000543134.1_Missense_Mutation_p.G241C NM_007190.3 NP_009121.1 Q9Y6Y8 S23IP_HUMAN SEC23 interacting protein 452 Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 36 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) TGTGGTGCATGGCATTGGACC 0.373000 14 81 2.32078e-09 3.30967e-09 1 1 0 GPR87 53836 broad.mit.edu 37 3 151012466 151012466 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:151012466G>T ENST00000260843.4 - 3 1032 c.568C>A c.(568-570)Cat>Aat p.H190N MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron NM_023915.3 NP_076404.3 Q9BY21 GPR87_HUMAN G protein-coupled receptor 87 190 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 19 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GAGCAGTCATGGATATTGTCC 0.443000 31 56 1.06801e-11 1.64184e-11 1 1 0 CACNA1C 775 broad.mit.edu 37 12 2721102 2721102 + Missense_Mutation SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:2721102A>G ENST00000399655.1 + 29 4016 c.3751A>G c.(3751-3753)Atg>Gtg p.M1251V CACNA1C_ENST00000335762.5_Missense_Mutation_p.M1276V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000480911.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000347598.4_Missense_Mutation_p.M1271V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.M1271V NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1271 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CAAAATCGCCATGAACATCCT 0.552000 4 30 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13923526 13923526 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:13923526C>A ENST00000265104.4 - 4 405 c.301G>T c.(301-303)Gta>Tta p.V101L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 101 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ACAAGATTTACCCCTCCTAGA 0.408000 Kartagener syndrome 49 81 2.24722e-20 4.0361e-20 1 1 0 RGS9 8787 broad.mit.edu 37 17 63189665 63189665 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:63189665G>T ENST00000449996.3 + 12 814 c.742G>T c.(742-744)Gtg>Ttg p.V248L RGS9_ENST00000443584.3_Missense_Mutation_p.V248L|RGS9_ENST00000262406.9_Missense_Mutation_p.V251L NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 251 G protein gamma. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 TTTCAGGATTGTGAAATACAG 0.473000 18 33 3.52763e-06 4.45621e-06 1 1 0 KIFC2 90990 broad.mit.edu 37 8 145695012 145695012 + Silent SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr8:145695012A>G ENST00000301332.2 + 12 1739 c.1362A>G c.(1360-1362)ccA>ccG p.P454P KIFC2_ENST00000301331.5_Silent_p.P202P NM_145754.2 NP_665697.1 Q96AC6 KIFC2_HUMAN kinesin family member C2 454 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TCTTCCCTCCAGACGCCAGCC 0.622000 54 27 0 0 1 0 0 SLC22A16 85413 broad.mit.edu 37 6 110777745 110777745 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:110777745C>G ENST00000368919.3 - 2 595 c.529G>C c.(529-531)Gac>Cac p.D177H SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000456137.2_Missense_Mutation_p.D177H|SLC22A16_ENST00000330550.4_Missense_Mutation_p.D143H|SLC22A16_ENST00000439654.1_Missense_Mutation_p.D177H NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 177 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) TTTTACCTGTCAGAAAAGTAG 0.398000 32 61 0 0 1 0 0 SLC6A6 6533 broad.mit.edu 37 3 14489152 14489152 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:14489152G>T ENST00000454876.2 + 5 756 c.427G>T c.(427-429)Gcc>Tcc p.A143S SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000416216.2_Missense_Mutation_p.A143S|SLC6A6_ENST00000360861.3_Missense_Mutation_p.A143S P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 143 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 CGTCATCCTGGCCTGGGCCAC 0.532000 64 184 4.13886e-29 8.05568e-29 1 1 0 HRNR 388697 broad.mit.edu 37 1 152191729 152191729 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:152191729G>T ENST00000368801.2 - 3 2451 c.2376C>A c.(2374-2376)ggC>ggA p.G792G FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 792 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACCCGTGTTGGCCGTGGCTGG 0.602000 7 105 0.307466 0.308486 1 1 0 NF1 4763 broad.mit.edu 37 17 29652932 29652932 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:29652932G>T ENST00000358273.4 + 37 5313 c.4930G>T c.(4930-4932)Gac>Tac p.D1644Y NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.D1623Y NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1644 CRAL-TRIO. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AATTGTAGTGGACCTTACCCA 0.408000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 40 31 1.67305e-13 2.71459e-13 1 1 0 PLXNA4 91584 broad.mit.edu 37 7 132192496 132192496 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:132192496C>A ENST00000359827.3 - 2 1919 c.957G>T c.(955-957)ggG>ggT p.G319G PLXNA4_ENST00000378539.5_Silent_p.G319G|PLXNA4_ENST00000423507.2_Silent_p.G319G|PLXNA4_ENST00000321063.4_Silent_p.G319G Q9HCM2 PLXA4_HUMAN plexin A4 319 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CAAGCACGGCCCCCGCTTTGG 0.582000 25 28 1.55469e-16 2.65058e-16 1 1 0 CPZ 8532 broad.mit.edu 37 4 8608523 8608523 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:8608523C>A ENST00000382480.2 + 6 1355 c.555C>A c.(553-555)aaC>aaA p.N185K CPZ_ENST00000360986.4_Missense_Mutation_p.N322K|CPZ_ENST00000315782.6_Missense_Mutation_p.N311K|CPZ_ENST00000429646.2_5'UTR NM_001014448.2 NP_001014448.1 Q66K79 CBPZ_HUMAN carboxypeptidase Z 322 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGGATCTGAACCGAAATTTCC 0.647000 19 44 3.32936e-07 4.38914e-07 1 1 0 KCNH5 27133 broad.mit.edu 37 14 63447706 63447706 + Nonsense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:63447706C>A ENST00000322893.7 - 6 1094 c.826G>T c.(826-828)Gag>Tag p.E276* KCNH5_ENST00000394968.1_Nonsense_Mutation_p.E218*|KCNH5_ENST00000394964.2_Nonsense_Mutation_p.E218*|KCNH5_ENST00000420622.2_Nonsense_Mutation_p.E276* NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 276 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GAAATGACCTCTCCACCGGGC 0.433000 13 26 1.49906e-05 1.83736e-05 1 1 0 GRIK1 2897 broad.mit.edu 37 21 31062100 31062100 + Silent SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr21:31062100C>G ENST00000399914.1 - 3 1013 c.492G>C c.(490-492)ctG>ctC p.L164L GRIK1_ENST00000399913.1_Silent_p.L164L|GRIK1_ENST00000389125.3_Silent_p.L164L|GRIK1_ENST00000389124.2_Silent_p.L164L|GRIK1_ENST00000399907.1_Silent_p.L164L|GRIK1_ENST00000309434.7_Silent_p.L164L|GRIK1_ENST00000399909.1_Silent_p.L164L|GRIK1_ENST00000535441.1_Silent_p.L164L|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000327783.4_Silent_p.L164L P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 164 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) AATAGAGGACCAGATCCAGGA 0.483000 46 121 0 0 1 0 0 OTUD6A 139562 broad.mit.edu 37 X 69282872 69282872 + Silent SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:69282872T>A ENST00000338352.2 + 1 532 c.498T>A c.(496-498)tcT>tcA p.S166S NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 166 OTU. autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 TCAGCGTGTCTGTGGAGATGC 0.632000 6 16 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564349 176564349 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:176564349G>T ENST00000367662.3 + 3 2773 c.1609G>T c.(1609-1611)Ggc>Tgc p.G537C PAPPA2_ENST00000367661.3_Missense_Mutation_p.G537C NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 537 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGATGATGAGGGCCTAAACCC 0.537000 15 49 7.93312e-07 1.02938e-06 1 1 0 ANK2 287 broad.mit.edu 37 4 114278096 114278096 + Silent SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:114278096C>T ENST00000357077.4 + 38 8375 c.8322C>T c.(8320-8322)ggC>ggT p.G2774G ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.G2741G NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2741 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCTGTGATGGCCATGGATGTG 0.488000 7 45 0 0 1 0 0 SLC14A2 8170 broad.mit.edu 37 18 43219806 43219806 + Silent SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr18:43219806G>A ENST00000255226.6 + 7 1755 c.939G>A c.(937-939)tcG>tcA p.S313S SLC14A2_ENST00000586448.1_Silent_p.S313S NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 313 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCATCTCCTCGCCACTCATCT 0.567000 7 29 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599312 136599312 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:136599312G>T ENST00000531224.1 - 4 959 c.707C>A c.(706-708)cCt>cAt p.P236H BCLAF1_ENST00000527759.1_Missense_Mutation_p.P234H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P236H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P234H|BCLAF1_ENST00000527536.1_Missense_Mutation_p.P236H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P234H NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 236 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ACTCTGACTAGGTGGTGTAGC 0.443000 7 95 1.06961e-07 1.43088e-07 1 1 0 SAMHD1 25939 broad.mit.edu 37 20 35563483 35563483 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr20:35563483C>A ENST00000262878.4 - 4 657 c.458G>T c.(457-459)gGt>gTt p.G153V SAMHD1_ENST00000373694.5_5'UTR NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 153 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) AACATAGTAACCACCTCCCAG 0.448000 45 28 4.44401e-20 7.9189e-20 1 1 0 ZNF695 57116 broad.mit.edu 37 1 247150744 247150744 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:247150744C>A ENST00000339986.7 - 4 1220 c.1073G>T c.(1072-1074)gGa>gTa p.G358V ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron NM_020394.4 NP_065127.4 Q8IW36 ZN695_HUMAN zinc finger protein 695 358 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) AAAGGCTTTTCCACATTCTTC 0.388000 5 21 1.024e-07 1.38415e-07 1 1 0 MAT1A 4143 broad.mit.edu 37 10 82040001 82040001 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:82040001C>A ENST00000372213.3 - 5 737 c.477G>T c.(475-477)aaG>aaT p.K159N NM_000429.2 NP_000420.1 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 159 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) GGGCGTTGAGCTTGTGAGCAA 0.622000 21 44 5.26018e-13 8.44422e-13 1 1 0 ALOX15 246 broad.mit.edu 37 17 4536575 4536575 + Silent SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:4536575C>G ENST00000570836.1 - 11 1380 c.1284G>C c.(1282-1284)ctG>ctC p.L428L ALOX15_ENST00000293761.3_Silent_p.L428L|ALOX15_ENST00000545513.1_Silent_p.L450L|ALOX15_ENST00000574640.1_Silent_p.L389L P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 428 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) CTTGCTTGAGCAGCTGCACGT 0.582000 27 22 0 0 1 0 0 POLM 27434 broad.mit.edu 37 7 44119270 44119270 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:44119270C>A ENST00000242248.5 - 4 643 c.542G>T c.(541-543)aGa>aTa p.R181I POLM_ENST00000395831.3_Missense_Mutation_p.R181I|POLM_ENST00000335195.6_Missense_Mutation_p.R181I NM_013284.2 NP_037416.1 Q9NP87 DPOLM_HUMAN polymerase (DNA directed), mu 181 DNA recombination|DNA repair nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2) 22 CGAGGCTGCTCTGCAGAAGGT 0.637000 DNA polymerases (catalytic subunits) 38 46 1.90571e-15 3.20088e-15 1 1 0 CCDC39 339829 broad.mit.edu 37 3 180377270 180377270 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:180377270C>A ENST00000273654.4 - 12 1579 c.960G>T c.(958-960)aaG>aaT p.K320N CCDC39_ENST00000442201.2_Missense_Mutation_p.K236N Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 236 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton p.K236K(1)|p.K320K(1) NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CTCCATCCCTCTTCTGCATCT 0.348000 9 14 1.12685e-05 1.39625e-05 1 1 0 LILRB1 10859 broad.mit.edu 37 19 55143181 55143181 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:55143181G>C ENST00000396331.1 + 5 658 c.301G>C c.(301-303)Ggt>Cgt p.G101R LILRB1_ENST00000418536.2_Missense_Mutation_p.G101R|LILRB1_ENST00000396327.3_Missense_Mutation_p.G101R|LILRB1_ENST00000396332.4_Missense_Mutation_p.G101R|LILRB1_ENST00000434867.2_Missense_Mutation_p.G101R|LILRB1_ENST00000448689.1_Missense_Mutation_p.G101R|LILRB1_ENST00000427581.2_Missense_Mutation_p.G137R|LILRB1_ENST00000324602.7_Missense_Mutation_p.G101R|LILRB1_ENST00000396317.1_Missense_Mutation_p.G101R|LILRB1_ENST00000396321.2_Missense_Mutation_p.G101R|LILRB1_ENST00000396315.1_Missense_Mutation_p.G101R NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 101 Ig-like C2-type 1. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CTGTTACTATGGTAGCGACAC 0.597000 HNSCC(37;0.09) 11 60 0 0 1 0 0 ACTR8 93973 broad.mit.edu 37 3 53910669 53910669 + Silent SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:53910669T>A ENST00000335754.3 - 6 856 c.756A>T c.(754-756)atA>atT p.I252I ACTR8_ENST00000482349.1_Silent_p.I141I|ACTR8_ENST00000231909.7_Silent_p.I2I NM_022899.4 NP_075050.3 Q9H981 ARP8_HUMAN ARP8 actin-related protein 8 homolog (yeast) 252 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) TCTTCATTAGTATCATATTCA 0.284000 3 21 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26906079 26906079 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:26906079C>A ENST00000231021.4 - 5 972 c.800G>T c.(799-801)cGa>cTa p.R267L NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 267 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R267Q(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CTGGGGAAATCGAGGAGGGTT 0.428000 13 221 4.3838e-07 5.73753e-07 1 1 0 DAPL1 92196 broad.mit.edu 37 2 159663591 159663591 + Missense_Mutation SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:159663591A>G ENST00000309950.3 + 3 227 c.171A>G c.(169-171)atA>atG p.I57M DAPL1_ENST00000409042.1_Missense_Mutation_p.I57M NM_001017920.2 NP_001017920.2 A0PJW8 DAPL1_HUMAN death associated protein-like 1 57 apoptosis|cell differentiation prostate(1) 1 TTGCCAAAATACAGACACTGG 0.463000 6 24 0 0 1 0 0 OR10X1 128367 broad.mit.edu 37 1 158549195 158549195 + Nonsense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:158549195G>T ENST00000368150.1 - 1 494 c.495C>A c.(493-495)tgC>tgA p.C165* NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) AGCCTGCAGTGCAAGCAGAGG 0.468000 5 44 0.000602214 0.000682761 1 1 0 OR14A16 284532 broad.mit.edu 37 1 247978310 247978310 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:247978310G>T ENST00000357627.1 - 1 721 c.722C>A c.(721-723)cCa>cAa p.P241Q NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 CAGCAAGTGTGGAAGGCAAAT 0.413000 8 43 5.18039e-06 6.4898e-06 1 1 0 OR3A2 4995 broad.mit.edu 37 17 3181544 3181544 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:3181544T>A ENST00000408891.2 - 1 724 c.686A>T c.(685-687)cAc>cTc p.H229L NM_002551.3 NP_002542.3 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, member 2 229 sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 AGCTGCCACGTGGCTGTAGGC 0.547000 26 53 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31369150 31369150 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr15:31369150C>A ENST00000542188.1 - 2 405 c.92G>T c.(91-93)cGg>cTg p.R31L TRPM1_ENST00000397795.2_5'UTR|TRPM1_ENST00000256552.6_Missense_Mutation_p.R14L|TRPM1_ENST00000559179.1_5'UTR NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 0 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GATACATTCCCGTTTGCAAAA 0.398000 5 18 0.184627 0.187312 1 1 0 HFE2 148738 broad.mit.edu 37 1 145415490 145415490 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:145415490C>A ENST00000336751.5 + 3 547 c.309C>A c.(307-309)ttC>ttA p.F103L HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 103 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ACCTCGCCTTCCATTCGGCGG 0.721000 62 82 9.64103e-21 1.75239e-20 1 1 0 TTC21A 199223 broad.mit.edu 37 3 39167772 39167772 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:39167772C>A ENST00000301819.6 + 12 1614 c.1437C>A c.(1435-1437)atC>atA p.I479I TTC21A_ENST00000431162.2_Silent_p.I479I|TTC21A_ENST00000440121.1_Silent_p.I430I NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 479 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CAGGCCAGATCGTGTCTCCAC 0.527000 10 56 0.335167 0.335908 1 1 0 RRN3P2 653390 broad.mit.edu 37 16 29113412 29113412 + RNA SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:29113412C>T ENST00000564580.1 + 0 1312 CAGACCTGCACAAACCCACTG 0.478000 28 45 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101720352 101720352 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:101720352G>T ENST00000251127.6 - 39 4445 c.4364C>A c.(4363-4365)tCc>tAc p.S1455Y NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1455 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CTCCTCAGTGGAATAAAACAA 0.338000 6 13 0.217242 0.219419 1 1 0 ATP8A2 51761 broad.mit.edu 37 13 26138170 26138170 + Splice_Site SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:26138170G>T ENST00000381655.2 + 16 1615 c.e16+1 ATP8A2_ENST00000255283.8_Splice_Site NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) GGATCGCCATGTAAGTGCTCT 0.423000 3 14 0.004672 0.00506878 1 1 0 XCR1 2829 broad.mit.edu 37 3 46062793 46062793 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:46062793C>A ENST00000309285.3 - 2 1003 c.647G>T c.(646-648)cGc>cTc p.R216L XCR1_ENST00000542109.1_Missense_Mutation_p.R216L NM_001024644.1 NP_001019815.1 P46094 XCR1_HUMAN chemokine (C motif) receptor 1 216 chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) CCGCTTGGAGCGTGAGCGGAA 0.587000 18 36 3.52763e-06 4.45621e-06 1 1 0 GCNT2 2651 broad.mit.edu 37 6 10586679 10586679 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:10586679G>T ENST00000265012.4 + 1 701 c.457G>T c.(457-459)Gct>Tct p.A153S GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron NM_145655.3 NP_663630.2 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 153 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) TGCTTTCATTGCTTCAAAGAC 0.478000 55 46 5.82388e-19 1.02171e-18 1 1 0 PADI2 11240 broad.mit.edu 37 1 17431489 17431489 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:17431489G>C ENST00000375486.4 - 2 223 c.160C>G c.(160-162)Cgt>Ggt p.R54G PADI2_ENST00000444885.2_Missense_Mutation_p.R54G|PADI2_ENST00000375481.1_Missense_Mutation_p.R54G NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 54 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) TCCCCATCACGCACCACCTCC 0.662000 21 30 0 0 1 0 0 RGS7BP 401190 broad.mit.edu 37 5 63803606 63803606 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:63803606G>T ENST00000334025.2 + 2 560 c.234G>T c.(232-234)tcG>tcT p.S78S RGS7BP_ENST00000508162.1_Intron NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 78 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) GGGATGTCTCGGTCAGCTGCC 0.498000 6 64 1.26484e-09 1.82677e-09 1 1 0 KCNS2 3788 broad.mit.edu 37 8 99440603 99440603 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr8:99440603G>C ENST00000287042.4 + 2 746 c.396G>C c.(394-396)caG>caC p.Q132H KCNS2_ENST00000521839.1_Missense_Mutation_p.Q132H NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 132 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) AGCCCGAGCAGGAGAAGTGGG 0.567000 8 96 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48697133 48697133 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:48697133G>T ENST00000354983.4 + 32 6141 c.5769G>T c.(5767-5769)ggG>ggT p.G1923G CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000507336.1_Silent_p.G1946G|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000513689.2_Silent_p.G1912G|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000515411.1_Silent_p.G1939G|CACNA1G_ENST00000510115.1_Silent_p.G1923G|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000507510.2_Silent_p.G1957G|CACNA1G_ENST00000515765.1_Silent_p.G1946G|CACNA1G_ENST00000359106.5_Silent_p.G1957G|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000503485.1_Intron NM_198396.2 NP_938406.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1957 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CAGGCCCAGGGGGCCAGCCCT 0.667000 10 14 2.17888e-05 2.64912e-05 1 1 0 OR4Q3 441669 broad.mit.edu 37 14 20216474 20216474 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:20216474G>C ENST00000331723.1 + 1 888 c.888G>C c.(886-888)aaG>aaC p.K296N NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGATATGAAGACAGCTATGA 0.398000 12 100 0 0 1 0 0 RBFOX2 23543 broad.mit.edu 37 22 36155959 36155959 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr22:36155959G>A ENST00000405409.2 - 9 1231 c.863C>T c.(862-864)cCa>cTa p.P288L RBFOX2_ENST00000416721.2_Missense_Mutation_p.P287L|RBFOX2_ENST00000414461.2_Missense_Mutation_p.P291L|RBFOX2_ENST00000359369.4_Missense_Mutation_p.P267L|RBFOX2_ENST00000449924.2_Missense_Mutation_p.P291L|RBFOX2_ENST00000397303.2_Missense_Mutation_p.P268L|RBFOX2_ENST00000438146.2_Missense_Mutation_p.P362L|RBFOX2_ENST00000262829.7_Missense_Mutation_p.P269L NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2 NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1 O43251 RFOX2_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 2 301 Ala-rich. estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing cytoplasm|nucleus nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding endometrium(4)|large_intestine(7)|lung(7) 18 GATGGCTGTTGGAGGTACCGC 0.517000 23 35 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140737051 140737051 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:140737051G>A ENST00000571252.1 + 1 2284 c.2284G>A c.(2284-2286)Gac>Aac p.D762N PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTCACCGCGGACTCGCGGAA 0.592000 33 56 0 0 1 0 0 IRAK2 3656 broad.mit.edu 37 3 10219635 10219635 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:10219635A>T ENST00000256458.4 + 2 298 c.208A>T c.(208-210)Acc>Tcc p.T70S NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 70 Death. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated 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 cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 GCGGCAGGCCACCGTCCAGCA 0.637000 16 114 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216373233 216373233 + Missense_Mutation SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:216373233T>C ENST00000366943.2 - 17 3933 c.3547A>G c.(3547-3549)Att>Gtt p.I1183V USH2A_ENST00000366942.3_Missense_Mutation_p.I1183V|USH2A_ENST00000307340.3_Missense_Mutation_p.I1183V|RP5-1099E6.3_ENST00000420867.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1183 Fibronectin type-III 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) CAGGACAAAATATATTTCTCT 0.438000 HNSCC(13;0.011) 11 103 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164786890 164786890 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:164786890G>T ENST00000264382.3 - 4 411 c.349C>A c.(349-351)Caa>Aaa p.Q117K NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 117 Isomaltase. Q -> R (in CSID; missorting of the enzyme to the basolateral membrane). carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTCATGTCTTGAACGTTATAA 0.378000 HNSCC(35;0.089) 4 15 0.00024832 0.000288013 1 1 0 TBX22 50945 broad.mit.edu 37 X 79277933 79277933 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:79277933C>A ENST00000373294.5 + 1 193 c.165C>A c.(163-165)agC>agA p.S55R TBX22_ENST00000373296.3_Missense_Mutation_p.S55R|TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000476373.1_3'UTR NM_016954.2 NP_058650.1 Q9Y458 TBX22_HUMAN T-box 22 55 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 CAGGGAAGAGCGAGCCGCTTG 0.617000 4 5 0.150653 0.153187 1 1 0 CASP5 838 broad.mit.edu 37 11 104868130 104868130 + Silent SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:104868130G>A ENST00000393141.2 - 8 1256 c.1225C>T c.(1225-1227)Cta>Tta p.L409L CASP5_ENST00000526056.1_Silent_p.L409L|CASP5_ENST00000444749.2_Silent_p.L338L|CASP5_ENST00000418434.1_Silent_p.L254L|CASP5_ENST00000260315.3_Silent_p.L396L|CASP5_ENST00000531367.1_Silent_p.L254L|CASP5_ENST00000393139.2_3'UTR NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 396 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) ATTTCCATTAGGTGGCAGCAG 0.373000 17 36 0 0 1 0 0 TEKT4 150483 broad.mit.edu 37 2 95540574 95540574 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:95540574C>A ENST00000295201.4 + 4 904 c.767C>A c.(766-768)gCc>gAc p.A256D AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 256 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 CTGTGCCGTGCCCAGCGCGAG 0.716000 3 18 0.004672 0.00506878 1 1 0 NPAP1 23742 broad.mit.edu 37 15 24924345 24924345 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr15:24924345G>T ENST00000329468.2 + 1 3805 c.3331G>T c.(3331-3333)Gtt>Ttt p.V1111F NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CAGATCCATAGTTGGAGGCCC 0.483000 13 64 1.5842e-08 2.19035e-08 1 1 0 CBWD1 55871 broad.mit.edu 37 9 172158 172158 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:172158C>G ENST00000377447.3 - 4 408 c.353G>C c.(352-354)aGa>aCa p.R118T CBWD1_ENST00000356521.4_Missense_Mutation_p.R118T|CBWD1_ENST00000377400.4_Missense_Mutation_p.R118T|CBWD1_ENST00000382447.4_Missense_Mutation_p.R118T|CBWD1_ENST00000382393.1_3'UTR|CBWD1_ENST00000431099.2_Missense_Mutation_p.R82T|CBWD1_ENST00000314367.10_Missense_Mutation_p.R82T Q9BRT8 CBWD1_HUMAN COBW domain containing 1 118 ATP binding|protein binding kidney(1)|lung(2)|ovary(1)|skin(1) 5 all_lung(41;0.218) all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CTCAATAGCTCTAAGGCCACT 0.308000 9 50 0 0 1 0 0 ZNF648 127665 broad.mit.edu 37 1 182026999 182026999 + Silent SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:182026999A>G ENST00000339948.3 - 2 354 c.147T>C c.(145-147)gcT>gcC p.A49A NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 49 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 CCACCGGGTCAGCGGTGCCCT 0.552000 12 96 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347140 71347140 + Missense_Mutation SNP T T G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:71347140T>G ENST00000413702.1 + 4 967 c.679T>G c.(679-681)Tct>Gct p.S227A MUC7_ENST00000304887.5_Missense_Mutation_p.S227A|MUC7_ENST00000456088.1_Missense_Mutation_p.S227A NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 227 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) AGCTCCACCATCTTCCTCAGC 0.577000 58 146 0 0 1 0 0 FIP1L1 81608 broad.mit.edu 37 4 54257245 54257245 + Missense_Mutation SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:54257245A>G ENST00000507166.1 + 8 575 c.575A>G c.(574-576)cAa>cGa p.Q192R FIP1L1_ENST00000337488.6_Missense_Mutation_p.Q192R|FIP1L1_ENST00000358575.5_Missense_Mutation_p.Q177R|FIP1L1_ENST00000306932.6_Missense_Mutation_p.Q177R|FIP1L1_ENST00000507922.1_Missense_Mutation_p.Q177R Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 192 Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4. mRNA processing nucleus RNA binding large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) TGTGAAAAACAAAAGAGGATA 0.323000 T PDGFRA idiopathic hypereosinophilic syndrome 9 26 0 0 1 0 0 PRPF40B 25766 broad.mit.edu 37 12 50037765 50037765 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:50037765G>A ENST00000261897.1 + 24 3013 c.2462G>A c.(2461-2463)gGc>gAc p.G821D PRPF40B_ENST00000380281.1_Missense_Mutation_p.G834D|PRPF40B_ENST00000548825.2_Missense_Mutation_p.G855D|FMNL3_ENST00000335154.5_3'UTR Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 834 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CGTTCCCCAGGCTTTGGAATC 0.577000 15 49 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168102461 168102461 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:168102461C>A ENST00000409195.1 + 9 4648 c.4559C>A c.(4558-4560)tCt>tAt p.S1520Y XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1298Y|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1520Y|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1345 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATCCCTCCTTCTGATGTCAAA 0.353000 16 31 8.60227e-14 1.40581e-13 1 1 0 PLA2G2F 64600 broad.mit.edu 37 1 20474846 20474846 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:20474846G>T ENST00000375102.3 + 5 690 c.588G>T c.(586-588)gaG>gaT p.E196D NM_022819.3 NP_073730.3 Q9BZM2 PA2GF_HUMAN phospholipase A2, group IIF 153 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) CGCCCCCTGAGGAGGTCACCT 0.632000 6 68 0.000157383 0.000183952 1 1 0 SCN10A 6336 broad.mit.edu 37 3 38739501 38739501 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:38739501C>T ENST00000449082.2 - 27 5209 c.5210G>A c.(5209-5211)aGt>aAt p.S1737N NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1737 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GTCGTCCTCACTCAGGGGCTC 0.483000 13 61 0 0 1 0 0 ITK 3702 broad.mit.edu 37 5 156671316 156671316 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:156671316T>A ENST00000422843.3 + 13 1429 c.1277T>A c.(1276-1278)cTg>cAg p.L426Q ITK_ENST00000519749.1_3'UTR NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 426 Protein kinase. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGGGTGTGCCTGGAGCAGGCC 0.552000 T SYK peripheral T-cell lymphoma 23 23 0 0 1 0 0 TGM2 7052 broad.mit.edu 37 20 36776406 36776406 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr20:36776406C>A ENST00000361475.2 - 5 811 c.638G>T c.(637-639)cGc>cTc p.R213L TGM2_ENST00000536724.1_Missense_Mutation_p.R153L|TGM2_ENST00000536701.1_Missense_Mutation_p.R132L NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 213 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) GCTGCTGCGGCGGGAGCAGTC 0.627000 11 11 5.16669e-11 7.82335e-11 1 1 0 RYR2 6262 broad.mit.edu 37 1 237813250 237813250 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:237813250C>A ENST00000366574.2 + 50 7903 c.7586C>A c.(7585-7587)aCa>aAa p.T2529K RYR2_ENST00000360064.6_Missense_Mutation_p.T2527K|RYR2_ENST00000542537.1_Missense_Mutation_p.T2513K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2529 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCATTGTTAACAAGATGTGCT 0.473000 18 118 1.99824e-07 2.66138e-07 1 1 0 ITK 3702 broad.mit.edu 37 5 156635952 156635952 + Missense_Mutation SNP A A C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:156635952A>C ENST00000422843.3 + 2 343 c.191A>C c.(190-192)gAg>gCg p.E64A CTB-4E7.1_ENST00000519375.1_RNA NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 64 PH. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AAATGTGTTGAGATTGTGAAA 0.458000 T SYK peripheral T-cell lymphoma 13 17 0 0 1 0 0 FLYWCH1 84256 broad.mit.edu 37 16 2979805 2979805 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:2979805C>T ENST00000399667.2 + 3 482 c.119C>T c.(118-120)tCc>tTc p.S40F FLYWCH1_ENST00000253928.9_Missense_Mutation_p.S40F|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.S40F Q4VC44 FWCH1_HUMAN FLYWCH-type zinc finger 1 40 nucleus DNA binding|metal ion binding kidney(1)|lung(3) 4 AGGGAGTTCTCCAAACTGGTG 0.662000 15 27 0 0 1 0 0 LCE4A 199834 broad.mit.edu 37 1 152681787 152681787 + Missense_Mutation SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:152681787A>G ENST00000368777.1 + 2 492 c.236A>G c.(235-237)tAt>tGt p.Y79C LCE4A_ENST00000335535.3_Missense_Mutation_p.Y79C Q5TA78 LCE4A_HUMAN late cornified envelope 4A 79 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.116) TCCAATTGCTATGGCAGTGGC 0.622000 9 102 0 0 1 0 0 FAM179B 23116 broad.mit.edu 37 14 45513877 45513877 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:45513877G>C ENST00000361462.2 + 13 4141 c.3958G>C c.(3958-3960)Gtc>Ctc p.V1320L FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.V1320L Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 1320 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 TGCTGCTGTGGTCTGTTTAAG 0.328000 4 19 0 0 1 0 0 IGHV3-72 28410 broad.mit.edu 37 14 107199117 107199117 + RNA SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:107199117G>A ENST00000433072.2 - 0 251 CCTGGAGCCTGGCGGACCCAG 0.577000 19 143 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49754824 49754824 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:49754824T>A ENST00000304801.3 - 1 229 c.77A>T c.(76-78)aAt>aTt p.N26I NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 26 Substrate binding (By similarity). glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) CATGGGAACATTGAAGTCTAC 0.423000 42 27 0 0 1 0 0 MCHR1 2847 broad.mit.edu 37 22 41077374 41077374 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr22:41077374G>T ENST00000249016.4 + 2 1407 c.711G>T c.(709-711)tgG>tgT p.W237C MCHR1_ENST00000381433.2_Intron|MCHR1_ENST00000498400.1_3'UTR NM_005297.3 NP_005288.3 Q99705 MCHR1_HUMAN melanin-concentrating hormone receptor 1 237 elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1) 20 GCCTCCTGTGGGCCCTCTCCT 0.632000 9 87 0.000274275 0.000315295 1 1 0 UQCRH 7388 broad.mit.edu 37 1 46775891 46775891 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:46775891G>A ENST00000311672.5 + 3 282 c.146G>A c.(145-147)cGg>cAg p.R49Q NM_001089591.1|NM_006004.2 NP_001083060.1|NP_005995.2 P07919 QCR6_HUMAN ubiquinol-cytochrome c reductase hinge protein 49 aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c ubiquinol-cytochrome-c reductase activity large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 4 Acute lymphoblastic leukemia(166;0.155) GCCCGGGAGCGGCTAGAGCTC 0.483000 15 55 0 0 1 0 0 FIBCD1 84929 broad.mit.edu 37 9 133804959 133804959 + Missense_Mutation SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:133804959T>C ENST00000372338.4 - 2 789 c.547A>G c.(547-549)Atc>Gtc p.I183V FIBCD1_ENST00000372337.2_Missense_Mutation_p.I25V|FIBCD1_ENST00000448616.1_Missense_Mutation_p.I183V|FIBCD1_ENST00000253018.4_Missense_Mutation_p.I25V NM_032843.4 NP_116232.3 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 183 signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1) 12 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) CCTACCTGGATGAGGCGGCCC 0.677000 14 23 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11676041 11676041 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:11676041G>C ENST00000423059.3 - 2 989 c.738C>G c.(736-738)tgC>tgG p.C246W NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 246 TSP type-1 2. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CCTCGGCCTCGCATGGACTGG 0.637000 HNSCC(18;0.044) 6 52 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68257301 68257301 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:68257301C>A ENST00000347230.4 - 15 2881 c.2743G>T c.(2743-2745)Gct>Tct p.A915S ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A915S NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 915 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GCTGCTGCAGCGCTGCCAATG 0.547000 6 52 0.0215528 0.0224952 1 1 0 CTD-2012J19.3 0 broad.mit.edu 37 5 1598420 1598420 + RNA SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:1598420G>A ENST00000605200.1 + 0 622 GTGGAGCCCCGGTGagggagg 0.532000 33 21 0 0 1 0 0 AURKB 9212 broad.mit.edu 37 17 8108672 8108672 + Silent SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:8108672G>A ENST00000316199.6 - 8 803 c.726C>T c.(724-726)ccC>ccT p.P242P AURKB_ENST00000578549.1_Silent_p.P209P|AURKB_ENST00000585124.1_Silent_p.P241P|AURKB_ENST00000534871.1_Silent_p.P200P|AURKB_ENST00000535053.1_3'UTR Q96GD4 AURKB_HUMAN aurora kinase B 241 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|lung(2) 4 TCATCTCTGGGGGCAGGTAGT 0.572000 39 40 0 0 1 0 0 RELL2 285613 broad.mit.edu 37 5 141019056 141019056 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:141019056G>A ENST00000297164.3 + 4 1543 c.343G>A c.(343-345)Gac>Aac p.D115N RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000444782.1_Missense_Mutation_p.D115N|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000518856.1_Missense_Mutation_p.D49N|RELL2_ENST00000521367.1_Missense_Mutation_p.D49N NM_173828.4 NP_776189.3 Q8NC24 RELL2_HUMAN RELT-like 2 115 integral to membrane|plasma membrane large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCCTGCAGGACGGAGCCCC 0.582000 8 25 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141459747 141459747 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:141459747C>A ENST00000389484.3 - 39 7236 c.6265G>T c.(6265-6267)Gtt>Ttt p.V2089F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2089 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AAGACTGCAACTGAAAACATA 0.428000 TSP Lung(27;0.18) 15 68 2.48551e-13 4.0113e-13 1 1 0 EIF2AK3 9451 broad.mit.edu 37 2 88876134 88876134 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:88876134C>A ENST00000303236.3 - 12 2275 c.1974G>T c.(1972-1974)tgG>tgT p.W658C EIF2AK3_ENST00000419748.1_Missense_Mutation_p.W507C NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 658 Protein kinase. activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 GTGCTTCGAGCCAGGCATTGA 0.418000 9 39 0.000274275 0.000315295 1 1 0 CILP 8483 broad.mit.edu 37 15 65491151 65491151 + Silent SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr15:65491151G>A ENST00000261883.4 - 9 1639 c.1473C>T c.(1471-1473)atC>atT p.I491I NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 491 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 GGCCCCGCACGATGCTCCGAG 0.597000 5 23 0 0 1 0 0 ZMYM2 7750 broad.mit.edu 37 13 20659979 20659979 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:20659979A>T ENST00000382869.3 + 25 4210 c.3959A>T c.(3958-3960)cAg>cTg p.Q1320L ZMYM2_ENST00000382874.2_Missense_Mutation_p.Q1320L|ZMYM2_ENST00000382871.2_Missense_Mutation_p.Q1320L|ZMYM2_ENST00000382870.2_Missense_Mutation_p.Q700L NM_001190965.1|NM_003453.3|NM_197968.2 NP_001177894.1|NP_003444.1|NP_932072.1 Q9UBW7 ZMYM2_HUMAN zinc finger, MYM-type 2 1320 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) AATCTTAATCAGAGGATGGAT 0.378000 4 20 0 0 1 0 0 SFPQ 6421 broad.mit.edu 37 1 35653584 35653584 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:35653584T>A ENST00000357214.5 - 7 1903 c.1805A>T c.(1804-1806)tAc>tTc p.Y602F NM_005066.2 NP_005057.1 P23246 SFPQ_HUMAN splicing factor proline/glutamine-rich 602 alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|nucleotide binding|protein binding|RNA binding SFPQ/TFE3(6) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) TGGATCCATGTAGCCCATTCG 0.423000 T TFE3 papillary renal cell 16 84 0 0 1 0 0 PRRC2C 23215 broad.mit.edu 37 1 171484912 171484912 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:171484912G>T ENST00000367742.3 + 5 682 c.440G>T c.(439-441)aGc>aTc p.S147I PRRC2C_ENST00000426496.2_Missense_Mutation_p.S145I|PRRC2C_ENST00000392078.3_Missense_Mutation_p.S147I|PRRC2C_ENST00000338920.4_Missense_Mutation_p.S145I|PRRC2C_ENST00000476522.1_3'UTR Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 145 protein C-terminus binding GAATTTCCCAGCCTGCAGGCA 0.368000 3 20 6.4e-05 7.61953e-05 1 1 0 IRF4 3662 broad.mit.edu 37 6 395894 395894 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:395894C>A ENST00000380956.4 + 4 577 c.451C>A c.(451-453)Ccc>Acc p.P151T IRF4_ENST00000495137.1_3'UTR NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 151 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) CATGAGCCACCCCTACACCAT 0.592000 T IGH@ MM 8 9 0.00307968 0.00338989 1 1 0 CDKN2A 1029 broad.mit.edu 37 9 21970914 21970914 + Silent SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:21970914C>T ENST00000304494.5 - 2 714 c.444G>A c.(442-444)gcG>gcA p.A148A CDKN2A_ENST00000578845.2_Silent_p.A97A|CDKN2A_ENST00000498628.2_Silent_p.A97A|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000497750.1_Silent_p.A97A|CDKN2A_ENST00000361570.3_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Silent_p.A97A|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000479692.2_Silent_p.A97A|CDKN2A_ENST00000446177.1_Silent_p.A148A|CDKN2A_ENST00000498124.1_Silent_p.A148A NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 148 A -> T (in dbSNP:rs3731249). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(13)|p.R128fs*12(3)|p.0(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) AGGGACCTTCCGCGGCATCTA 0.597000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 7 51 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17081753 17081753 + Nonsense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:17081753G>A ENST00000443236.1 - 18 2333 c.2302C>T c.(2302-2304)Cag>Tag p.Q768* CPAMD8_ENST00000388925.4_3'UTR NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 721 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GTGTGGGGCTGGAAAGCGGGG 0.592000 13 34 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31901427 31901427 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:31901427G>T ENST00000456570.1 + 3 352 c.297G>T c.(295-297)gtG>gtT p.V99V C2_ENST00000442278.2_Silent_p.V29V|C2_ENST00000452323.2_Silent_p.V38V|C2_ENST00000469372.1_5'UTR|C2_ENST00000418949.2_Silent_p.V161V|C2_ENST00000299367.5_Silent_p.V161V|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Silent_p.V99V P00751 CFAB_HUMAN complement factor B 175 Sushi 1. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 TGGGCGCAGTGCGGACAGGCT 0.627000 44 30 1.41504e-22 2.65173e-22 1 1 0 PDCD10 11235 broad.mit.edu 37 3 167414851 167414851 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:167414851C>A ENST00000392750.2 - 5 631 c.214G>T c.(214-216)Gtg>Ttg p.V72L PDCD10_ENST00000471885.1_Missense_Mutation_p.V72L|PDCD10_ENST00000461494.1_Missense_Mutation_p.V72L|PDCD10_ENST00000492396.1_Missense_Mutation_p.V9L|PDCD10_ENST00000487947.2_Missense_Mutation_p.V72L|PDCD10_ENST00000470131.1_Missense_Mutation_p.V72L|PDCD10_ENST00000473645.2_Missense_Mutation_p.V72L|PDCD10_ENST00000497056.2_Missense_Mutation_p.V72L NM_007217.3 NP_009148.2 Q9BUL8 PDC10_HUMAN programmed cell death 10 72 angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity cytosol|Golgi membrane|plasma membrane protein homodimerization activity|protein N-terminus binding central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2) 12 TTAACTTCCACGCTTTTTTTC 0.338000 4 25 0.014758 0.0155645 1 1 0 MAB21L1 4081 broad.mit.edu 37 13 36049326 36049326 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:36049326G>C ENST00000379919.4 - 1 1506 c.950C>G c.(949-951)cCc>cGc p.P317R NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron NM_005584.4 NP_005575.1 Q13394 MB211_HUMAN mab-21-like 1 (C. elegans) 317 anatomical structure morphogenesis nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 20 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) AAAGTAGTGGGGACACCGCCG 0.547000 11 86 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194126775 194126775 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:194126775G>A ENST00000439040.1 - 33 4345 c.3554C>T c.(3553-3555)gCa>gTa p.A1185V ATP13A3_ENST00000256031.4_Missense_Mutation_p.A1185V Q9H7F0 AT133_HUMAN ATPase type 13A3 1185 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CATGTACTTTGCCTTTGGTGT 0.448000 10 48 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197404356 197404356 + Silent SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:197404356G>A ENST00000367397.1 + 5 2364 c.1506G>A c.(1504-1506)caG>caA p.Q502Q CRB1_ENST00000535699.1_Silent_p.Q1097Q|CRB1_ENST00000367400.3_Silent_p.Q1121Q|CRB1_ENST00000367399.2_Silent_p.Q1009Q|CRB1_ENST00000544212.1_Silent_p.Q602Q|CRB1_ENST00000538660.1_Intron P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1121 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.Q1121_E1122>H*(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 ATAAACCTCAGGAAGAGCAAT 0.398000 28 32 0 0 1 0 0 CAMP 820 broad.mit.edu 37 3 48266801 48266801 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:48266801C>A ENST00000296435.2 + 4 565 c.409C>A c.(409-411)Ctg>Atg p.L137M CAMP_ENST00000576243.1_Missense_Mutation_p.L134M NM_004345.4 NP_004336.3 P49913 CAMP_HUMAN cathelicidin antimicrobial peptide 134 killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface extracellular region endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GAGATTTGCCCTGCTGGGTGA 0.468000 35 69 1.56738e-10 2.34977e-10 1 1 0 INSRR 3645 broad.mit.edu 37 1 156812256 156812256 + Silent SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:156812256G>C ENST00000368195.3 - 18 3567 c.3171C>G c.(3169-3171)gtC>gtG p.V1057V NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 1057 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ACTCCATGATGACCAGAGTTG 0.577000 17 77 0 0 1 0 0 ACTN3 89 broad.mit.edu 37 11 66328219 66328219 + RNA SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:66328219G>A ENST00000513398.1 + 0 1950 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 AACACCAAGTGGGATATGGTC 0.572000 23 72 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42088266 42088266 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:42088266T>A ENST00000395925.3 - 5 587 c.503A>T c.(502-504)tAt>tTt p.Y168F GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 168 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 CAGGTCCGGATACGTAGGGCT 0.522000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 22 22 0 0 1 0 0 CREB1 1385 broad.mit.edu 37 2 208440050 208440050 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:208440050T>A ENST00000432329.2 + 7 853 c.602T>A c.(601-603)gTa>gAa p.V201E CREB1_ENST00000353267.3_Missense_Mutation_p.V187E|CREB1_ENST00000539789.1_3'UTR|CREB1_ENST00000536726.1_Missense_Mutation_p.V187E|CREB1_ENST00000430624.1_Missense_Mutation_p.V187E|CREB1_ENST00000374397.4_Intron NM_134442.3 NP_604391.1 P16220 CREB1_HUMAN cAMP responsive element binding protein 1 201 activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|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 protein dimerization activity|transcription cofactor activity EWSR1/CREB1(44) NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1) 5 LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145) Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183) ACCGATGGGGTACAGGGCCTG 0.453000 T EWSR1 """clear cell sarcoma, angiomatoid fibrous histiocytoma""" 11 45 0 0 1 0 0 DPYS 1807 broad.mit.edu 37 8 105436552 105436552 + Silent SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr8:105436552A>G ENST00000351513.2 - 7 1290 c.1158T>C c.(1156-1158)ttT>ttC p.F386F NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 386 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding p.F386L(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GATAGAGATTAAAAATTTTGG 0.363000 6 38 0 0 1 0 0 RCBTB2 1102 broad.mit.edu 37 13 49089464 49089464 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:49089464C>A ENST00000344532.3 - 6 649 c.226G>T c.(226-228)Ggc>Tgc p.G76C RCBTB2_ENST00000481144.1_5'UTR|RCBTB2_ENST00000544492.1_5'UTR|RCBTB2_ENST00000430805.2_Missense_Mutation_p.G81C|RCBTB2_ENST00000544904.1_Missense_Mutation_p.G52C NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 76 Ran guanyl-nucleotide exchange factor activity breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) CCCAAACAGCCACAGCAGTTT 0.423000 12 81 0.0135373 0.0144451 1 1 0 ANAPC1 64682 broad.mit.edu 37 2 112615964 112615964 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:112615964T>A ENST00000341068.3 - 11 2049 c.1277A>T c.(1276-1278)cAa>cTa p.Q426L NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 426 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 TTTTGAGGCTTGTGAATTTTT 0.403000 14 20 0 0 1 0 0 GNB4 59345 broad.mit.edu 37 3 179132828 179132828 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:179132828G>T ENST00000232564.3 - 6 561 c.275C>A c.(274-276)gCt>gAt p.A92D GNB4_ENST00000468623.1_Missense_Mutation_p.A92D NM_021629.3 NP_067642.1 Q9HAV0 GBB4_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 4 92 cellular response to glucagon stimulus|energy reserve metabolic process plasma membrane signal transducer activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 16 all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237) CAAAGGAATAGCATGCATCTG 0.393000 10 40 0.000442599 0.000506866 1 1 0 DIRAS2 54769 broad.mit.edu 37 9 93375770 93375770 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:93375770T>A ENST00000375765.3 - 2 728 c.340A>T c.(340-342)Atc>Ttc p.I114F NM_017594.3 NP_060064.2 Q96HU8 DIRA2_HUMAN DIRAS family, GTP-binding RAS-like 2 114 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 ATGATGGGGATGCTCTCCACG 0.592000 14 79 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116497460 116497460 + Silent SNP G G T rs146251151 TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:116497460G>T ENST00000410059.1 + 9 1323 c.843G>T c.(841-843)ccG>ccT p.P281P DPP10_ENST00000310323.8_Silent_p.P274P|DPP10_ENST00000409163.1_Silent_p.P231P|DPP10_ENST00000393147.2_Silent_p.P285P NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 281 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 AGCAGTATCCGTATCCTAAGG 0.423000 18 64 8.34094e-07 1.07921e-06 1 1 0 AMER3 205147 broad.mit.edu 37 2 131520459 131520459 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:131520459C>T ENST00000423981.1 + 2 924 c.814C>T c.(814-816)Cca>Tca p.P272S AMER3_ENST00000321420.4_Missense_Mutation_p.P272S NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 CCCGGAGAGCCCAACCCAGGC 0.657000 8 51 0 0 1 0 0 OR4N5 390437 broad.mit.edu 37 14 20612329 20612329 + Silent SNP G G C rs150068542 byFrequency TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:20612329G>C ENST00000333629.1 + 1 435 c.435G>C c.(433-435)tcG>tcC p.S145S NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) ATGCATTATCGTTGGTTCTGT 0.493000 32 150 0 0 1 0 0 SRC 6714 broad.mit.edu 37 20 36028594 36028594 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr20:36028594G>T ENST00000373578.2 + 10 1285 c.936G>T c.(934-936)caG>caT p.Q312H SRC_ENST00000445403.1_Missense_Mutation_p.Q312H|SRC_ENST00000373558.2_Missense_Mutation_p.Q318H|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000360723.4_Missense_Mutation_p.Q318H|SRC_ENST00000373567.2_Missense_Mutation_p.Q312H|SRC_ENST00000358208.4_Missense_Mutation_p.Q312H NM_198291.1 NP_938033.1 P12931 SRC_HUMAN v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog 312 Protein kinase. axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation caveola|cytosol|mitochondrial inner membrane ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) Dasatinib(DB01254) CCTTCCTGCAGGAGGCCCAGG 0.562000 29 16 5.61819e-17 9.61452e-17 1 1 0 KCND1 3750 broad.mit.edu 37 X 48825726 48825726 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:48825726G>A ENST00000218176.3 - 1 2250 c.953C>T c.(952-954)aCa>aTa p.T318I NM_004979.4 NP_004970.3 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 1 318 voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 24 GCTCTTGAGTGTGTAGCCCAG 0.527000 4 3 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17418584 17418584 + Missense_Mutation SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:17418584A>G ENST00000302539.4 - 33 4126 c.4001T>C c.(4000-4002)cTg>cCg p.L1334P ABCC8_ENST00000389817.3_Missense_Mutation_p.L1333P NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1333 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CTTTGGGATCAGCGATGGTGC 0.632000 15 85 0 0 1 0 0 TRAV1-1 28693 broad.mit.edu 37 14 22090029 22090029 + RNA SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:22090029G>T ENST00000542354.1 + 0 39 CGGGGATGCAGTGCCAGGCTC 0.488000 4 20 1.23904e-05 1.52484e-05 1 1 0 GPR110 266977 broad.mit.edu 37 6 46991782 46991782 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:46991782G>A ENST00000371253.2 - 5 664 c.449C>T c.(448-450)aCa>aTa p.T150I GPR110_ENST00000371243.2_Missense_Mutation_p.T150I|GPR110_ENST00000449332.2_5'UTR NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 150 SEA. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 TTGCTTACTTGTTCTCTCACA 0.498000 16 6 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90012313 90012313 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:90012313G>T ENST00000405460.2 + 43 9310 c.9214G>T c.(9214-9216)Ggc>Tgc p.G3072C NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3072 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TAATGATGACGGCCCTGGAGT 0.373000 3 9 0.115264 0.117598 1 1 0 TSHR 7253 broad.mit.edu 37 14 81610426 81610426 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:81610426C>A ENST00000541158.2 + 11 2346 c.2024C>A c.(2023-2025)cCa>cAa p.P675Q TSHR_ENST00000298171.2_Missense_Mutation_p.P675Q|RP11-114N19.3_ENST00000557775.1_RNA P16473 TSHR_HUMAN thyroid stimulating hormone receptor 675 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) TGTGCCAATCCATTCCTCTAT 0.473000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 29 85 9.65021e-13 1.53557e-12 1 1 0 KIAA0947 23379 broad.mit.edu 37 5 5464644 5464644 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:5464644C>G ENST00000296564.7 + 13 5419 c.5197C>G c.(5197-5199)Ccc>Gcc p.P1733A NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 1733 Pro-rich. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 CCGACTCCCACCCTGTGCATC 0.602000 7 89 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13871694 13871694 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:13871694C>A ENST00000265104.4 - 23 3681 c.3577G>T c.(3577-3579)Ggt>Tgt p.G1193C CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1193 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCAATGGAACCCACACAGACA 0.378000 Kartagener syndrome 5 61 0.00116845 0.00130515 1 1 0 MAML1 9794 broad.mit.edu 37 5 179192659 179192659 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:179192659G>T ENST00000292599.3 + 2 911 c.648G>T c.(646-648)ctG>ctT p.L216L MAML1_ENST00000503050.1_3'UTR NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 216 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATAAAGAACTGAAGCAGGAGC 0.512000 35 18 9.04072e-19 1.583e-18 1 1 0 WNT3A 89780 broad.mit.edu 37 1 228238533 228238533 + Missense_Mutation SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:228238533A>G ENST00000284523.1 + 3 568 c.490A>G c.(490-492)Atg>Gtg p.M164V WNT3A_ENST00000366753.2_Missense_Mutation_p.M164V NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 164 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) GTTTGGTGGGATGGTGTCTCG 0.672000 12 51 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 88035587 88035587 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:88035587G>T ENST00000307808.6 + 11 2001 c.1581G>T c.(1579-1581)gcG>gcT p.A527A AFF1_ENST00000544085.1_Silent_p.A165A|AFF1_ENST00000395146.4_Silent_p.A534A NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 527 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) AGCCAGCTGCGCCACCAGAGG 0.552000 7 21 0.0293803 0.0305596 1 1 0 LCE3E 353145 broad.mit.edu 37 1 152538490 152538490 + Silent SNP G G T rs145878248 TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:152538490G>T ENST00000368789.1 - 2 250 c.195C>A c.(193-195)cgC>cgA p.R65R NM_178435.2 NP_848522.1 Q5T5B0 LCE3E_HUMAN late cornified envelope 3E 65 keratinization lung(6)|ovary(1) 7 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153) TGGACCTCTGGCGCCGGCATC 0.672000 18 181 5.03518e-11 7.63698e-11 1 1 0 MAGEL2 54551 broad.mit.edu 37 15 23889876 23889876 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr15:23889876G>T ENST00000532292.1 - 1 1299 c.1205C>A c.(1204-1206)gCc>gAc p.A402D NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) ATCCTGGGTGGCACTGGATCC 0.592000 7 20 8.12818e-05 9.64956e-05 1 1 0 VGLL1 51442 broad.mit.edu 37 X 135618285 135618285 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:135618285G>T ENST00000370634.3 + 2 276 c.106G>T c.(106-108)Gac>Tac p.D36Y NM_016267.3 NP_057351.1 Q99990 VGLL1_HUMAN vestigial like 1 (Drosophila) 36 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;0.000127) CTTCCAAGGGGACATCAGCAG 0.507000 23 22 1.22574e-08 1.70513e-08 1 1 0 SLITRK6 84189 broad.mit.edu 37 13 86368286 86368286 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:86368286C>A ENST00000400286.2 - 2 2956 c.2358G>T c.(2356-2358)atG>atT p.M786I NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 786 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) AATGTGCCTCCATATCAGGCT 0.408000 8 51 5.18039e-06 6.4898e-06 1 1 0 EPM2AIP1 9852 broad.mit.edu 37 3 37033587 37033587 + Nonsense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:37033587C>A ENST00000322716.5 - 1 1208 c.982G>T c.(982-984)Gag>Tag p.E328* NM_014805.3 NP_055620.1 Q7L775 EPMIP_HUMAN EPM2A (laforin) interacting protein 1 328 endoplasmic reticulum breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2) 27 TCACCATGCTCTGATTCAGAT 0.373000 19 36 1.67942e-08 2.31143e-08 1 1 0 CD1A 909 broad.mit.edu 37 1 158226679 158226679 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:158226679G>T ENST00000289429.5 + 4 1241 c.708G>T c.(706-708)atG>atT p.M236I NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 236 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) TGTGGGTGATGTGGATGCGGG 0.642000 9 123 0.000978159 0.0011021 1 1 0 PCDHA7 56141 broad.mit.edu 37 5 140216098 140216098 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:140216098G>T ENST00000525929.1 + 1 2130 c.2130G>T c.(2128-2130)ctG>ctT p.L710L PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.L710L|PCDHA5_ENST00000529619.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCCAGTCTGTTGGTGCTTA 0.617000 41 59 4.0492e-12 6.33211e-12 1 1 0 ZFHX3 463 broad.mit.edu 37 16 72827940 72827940 + Missense_Mutation SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:72827940T>C ENST00000268489.5 - 9 9313 c.8641A>G c.(8641-8643)Atg>Gtg p.M2881V ZFHX3_ENST00000397992.5_Missense_Mutation_p.M1967V NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2881 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GACATTGCCATCATGGCCGCT 0.502000 30 48 0 0 1 0 0 HTR3B 9177 broad.mit.edu 37 11 113780035 113780035 + Missense_Mutation SNP C C T rs138942341 TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:113780035C>T ENST00000260191.2 + 2 328 c.71C>T c.(70-72)aCa>aTa p.T24I HTR3B_ENST00000537778.1_Missense_Mutation_p.T13I NM_006028.4 NP_006019.1 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 24 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) GCCACAGATACACATCATCCC 0.418000 19 37 0 0 1 0 0 CCDC13 152206 broad.mit.edu 37 3 42781127 42781127 + Splice_Site SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:42781127A>G ENST00000310232.6 - 9 1246 c.1164_splice c.e9+1 p.M388_splice CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 388 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 GGGCCATACCATGAGGGCGTC 0.607000 17 45 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31302372 31302372 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:31302372G>C ENST00000265071.2 + 6 1231 c.966G>C c.(964-966)caG>caC p.Q322H CDH6_ENST00000514738.1_Missense_Mutation_p.Q267H NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 322 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TCACCGACCAGGAAACCCAGG 0.448000 10 92 0 0 1 0 0 PSMC6 5706 broad.mit.edu 37 14 53194258 53194258 + Nonsense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:53194258G>T ENST00000445930.2 + 14 1141 c.1135G>T c.(1135-1137)Gaa>Taa p.E379* PSMC6_ENST00000606149.1_Nonsense_Mutation_p.E365*|PSMC6_ENST00000557557.1_3'UTR P62333 PRS10_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 6 365 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 19 Breast(41;0.176) TGTAGTACAGGAAGACTTCAT 0.343000 11 23 3.86212e-05 4.6213e-05 1 1 0 UBD 10537 broad.mit.edu 37 6 29524021 29524021 + Missense_Mutation SNP A A C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:29524021A>C ENST00000377050.4 - 2 357 c.134T>G c.(133-135)gTg>gGg p.V45G GABBR1_ENST00000355973.3_3'UTR NM_006398.3 NP_006389.2 O15205 UBD_HUMAN ubiquitin D 45 Ubiquitin 1. aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process aggresome|cytoplasm|nucleus proteasome binding kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 CTGGTCCTGCACAGGAACCTT 0.473000 13 20 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228509442 228509442 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:228509442G>C ENST00000570156.2 + 66 17845 c.17771G>C c.(17770-17772)gGc>gCc p.G5924A OBSCN_ENST00000284548.11_Missense_Mutation_p.G4967A|OBSCN_ENST00000366707.4_Missense_Mutation_p.G2601A|OBSCN_ENST00000422127.1_Missense_Mutation_p.G4967A|OBSCN_ENST00000366709.4_Missense_Mutation_p.G2086A NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4967 PH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCTGATGCTGGCTGCTACACC 0.607000 8 94 0 0 1 0 0 SLC25A12 8604 broad.mit.edu 37 2 172725332 172725332 + Splice_Site SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:172725332T>A ENST00000422440.2 - 3 105 c.66_splice c.e3-1 p.Y23_splice SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_5'UTR NM_003705.4 NP_003696.2 O75746 CMC1_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 12 23 gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) AGTACTGGCATACTAAAAAAA 0.318000 5 47 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71202711 71202711 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:71202711C>A ENST00000554752.2 - 9 1879 c.1880G>T c.(1879-1881)aGt>aTt p.S627I MAP3K9_ENST00000554146.1_Intron|MAP3K9_ENST00000553414.1_Intron|MAP3K9_ENST00000555993.2_Missense_Mutation_p.S627I|MAP3K9_ENST00000381250.4_Intron P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 627 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) TGATGGGGTACTTAAACCATT 0.473000 4 35 0.00909568 0.00974 1 1 0 PCDHB7 56129 broad.mit.edu 37 5 140553103 140553103 + Silent SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:140553103C>T ENST00000231137.3 + 1 861 c.687C>T c.(685-687)cgC>cgT p.R229R NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 229 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTCGTGCGCATTCTGGTTC 0.537000 14 23 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5283180 5283180 + Nonsense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr20:5283180T>A ENST00000546004.1 - 3 907 c.661A>T c.(661-663)Aag>Tag p.K221* PROKR2_ENST00000217270.3_Nonsense_Mutation_p.K221* Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 221 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 AAGTAGGACTTGTAGTAGAGC 0.527000 HNSCC(71;0.22) 39 36 0 0 1 0 0 ANGPTL5 253935 broad.mit.edu 37 11 101762127 101762127 + Silent SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:101762127A>G ENST00000334289.3 - 9 1645 c.1050T>C c.(1048-1050)tcT>tcC p.S350S NM_178127.4 NP_835228.2 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 350 Fibrinogen C-terminal. signal transduction extracellular space receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3) 29 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) GCAATTTTCCAGAGAAGTGAT 0.418000 40 96 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65170937 65170937 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:65170937C>A ENST00000381210.3 - 7 787 c.677G>T c.(676-678)gGa>gTa p.G226V TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.G226V NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 226 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 AGAAGTAAATCCCCAGTAAAA 0.308000 10 30 0.00621372 0.00670933 1 1 0 MUC17 140453 broad.mit.edu 37 7 100675017 100675017 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:100675017G>T ENST00000306151.4 + 3 384 c.320G>T c.(319-321)aGt>aTt p.S107I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 107 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) GGTGTCTCCAGTACCAGGATG 0.473000 20 36 1.56452e-12 2.47217e-12 1 1 0 NUP155 9631 broad.mit.edu 37 5 37299643 37299643 + Missense_Mutation SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:37299643T>C ENST00000231498.3 - 31 3792 c.3589A>G c.(3589-3591)Aaa>Gaa p.K1197E NUP155_ENST00000513532.1_Missense_Mutation_p.K1133E|NUP155_ENST00000381843.2_Missense_Mutation_p.K1138E|NUP155_ENST00000502533.1_5'UTR NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 1197 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCTGCAAGTTTAAATGGGTCA 0.383000 12 68 0 0 1 0 0 EPHA2 1969 broad.mit.edu 37 1 16462191 16462191 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:16462191G>C ENST00000358432.5 - 6 1541 c.1387C>G c.(1387-1389)Cag>Gag p.Q463E NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 463 Fibronectin type-III 2. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) ACTCGGCTCTGCTGCGGCGGG 0.672000 14 77 0 0 1 0 0 KIAA1614 57710 broad.mit.edu 37 1 180885573 180885573 + Missense_Mutation SNP T T G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:180885573T>G ENST00000367588.4 + 2 389 c.334T>G c.(334-336)Tcc>Gcc p.S112A NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 112 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 AGAGTGGTCATCCCCCAAGAA 0.597000 26 104 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7644225 7644225 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:7644225C>A ENST00000572933.1 + 11 3064 c.1604C>A c.(1603-1605)cCa>cAa p.P535Q DNAH2_ENST00000570791.1_Missense_Mutation_p.P617Q|DNAH2_ENST00000389173.2_Missense_Mutation_p.P535Q|DNAH2_ENST00000082259.3_Missense_Mutation_p.P617Q Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 535 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AAGAAATGGCCAGACCTGGAG 0.572000 19 90 2.54575e-18 4.4149e-18 1 1 0 ZNF423 23090 broad.mit.edu 37 16 49823410 49823410 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:49823410C>A ENST00000561648.1 - 2 117 c.64G>T c.(64-66)Gtg>Ttg p.V22L ZNF423_ENST00000562520.1_5'UTR|ZNF423_ENST00000262383.2_Missense_Mutation_p.V22L|ZNF423_ENST00000563137.2_5'UTR NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 22 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GCTGCTGTCACGGAGGAATCC 0.567000 12 23 6.40141e-05 7.61953e-05 1 1 0 MUC16 94025 broad.mit.edu 37 19 9061382 9061382 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:9061382G>T ENST00000397910.4 - 3 26267 c.26064C>A c.(26062-26064)tcC>tcA p.S8688S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8690 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 GAGTTGATGTGGAAACACTTG 0.473000 6 26 3.59834e-05 4.32277e-05 1 1 0 CHUK 1147 broad.mit.edu 37 10 101982729 101982729 + Missense_Mutation SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:101982729T>C ENST00000370397.7 - 3 295 c.209A>G c.(208-210)cAt>cGt p.H70R NM_001278.3 NP_001269.3 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase 70 Protein kinase. I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 27 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) AACATTGGCATGGTTCAACCT 0.343000 8 14 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169637744 169637744 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:169637744T>A ENST00000366787.3 - 9 1525 c.1276A>T c.(1276-1278)Agt>Tgt p.S426C XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 426 TSP type-1 1. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) TTGCTCAGACTGCAAGCCCGT 0.647000 23 33 0 0 1 0 0 NIPAL4 348938 broad.mit.edu 37 5 156890226 156890226 + Silent SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:156890226T>C ENST00000311946.7 + 2 464 c.348T>C c.(346-348)taT>taC p.Y116Y NIPAL4_ENST00000521390.1_3'UTR|ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Silent_p.Y116Y NM_001099287.1 NP_001092757.1 Q0D2K0 NIPA4_HUMAN NIPA-like domain containing 4 116 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 GGCAGAACTATGGCTTCTACA 0.567000 8 45 0 0 1 0 0 FAM194A 131831 broad.mit.edu 37 3 150391823 150391823 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:150391823G>T ENST00000295910.6 - 11 1315 c.1263C>A c.(1261-1263)gtC>gtA p.V421V FAM194A_ENST00000491361.1_Silent_p.V275V NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 421 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GCTCATTCCTGACAACCTATA 0.383000 9 34 2.17888e-05 2.64912e-05 1 1 0 PDE9A 5152 broad.mit.edu 37 21 44117587 44117587 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr21:44117587G>T ENST00000380328.2 + 4 317 c.281G>T c.(280-282)tGg>tTg p.W94L PDE9A_ENST00000398225.3_Intron|PDE9A_ENST00000398232.3_Intron|PDE9A_ENST00000291539.6_Intron|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000328862.6_Intron|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000335512.4_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000335440.6_Intron NM_001001570.1 NP_001001570.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 0 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 AAGGAGTCATGGGCGTCCCAC 0.423000 20 40 2.4624e-09 3.50062e-09 1 1 0 BCL11A 53335 broad.mit.edu 37 2 60689361 60689361 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:60689361C>A ENST00000335712.6 - 4 913 c.686G>T c.(685-687)gGg>gTg p.G229V BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.G195V|BCL11A_ENST00000538214.1_Missense_Mutation_p.G195V|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.G229V NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 229 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) AATATGAATCCCATGGAGAGG 0.527000 T IGH@ B-CLL 23 22 1.10923e-09 1.60715e-09 1 1 0 ANKMY1 51281 broad.mit.edu 37 2 241452254 241452254 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:241452254C>A ENST00000391987.1 - 10 2209 c.1843G>T c.(1843-1845)Gca>Tca p.A615S ANKMY1_ENST00000373318.2_Missense_Mutation_p.A474S|ANKMY1_ENST00000272972.3_Missense_Mutation_p.A615S|ANKMY1_ENST00000403283.1_Missense_Mutation_p.A553S|ANKMY1_ENST00000373320.4_Missense_Mutation_p.A385S|ANKMY1_ENST00000406958.1_Missense_Mutation_p.A376S|ANKMY1_ENST00000361678.4_Missense_Mutation_p.A474S|ANKMY1_ENST00000401804.1_Missense_Mutation_p.A704S|ANKMY1_ENST00000536462.1_3'UTR Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 615 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) TCGTCGGATGCCTTGGCGTCC 0.612000 5 28 0.0215528 0.0224952 1 1 0 CCHCR1 54535 broad.mit.edu 37 6 31116424 31116424 + Nonsense_Mutation SNP C C A rs150801122 TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:31116424C>A ENST00000396268.3 - 9 1632 c.1444G>T c.(1444-1446)Gag>Tag p.E482* CCHCR1_ENST00000451521.2_Nonsense_Mutation_p.E446*|CCHCR1_ENST00000376266.5_Nonsense_Mutation_p.E393*|CCHCR1_ENST00000396263.2_Nonsense_Mutation_p.E393* NM_001105563.1|NM_001105564.1 NP_001099033.1|NP_001099034.1 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 393 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23 ACCTCCACCTCTGCGGCTTTG 0.627000 90 72 5.30062e-26 1.01857e-25 1 1 0 TRBV7-4 28594 broad.mit.edu 37 7 142176337 142176337 + RNA SNP G G T rs73162350 by1000genomes TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:142176337G>T ENST00000390369.2 - 0 338 TGGCTAAGCTGCTGGCACAGA 0.557000 6 44 0.0381472 0.0394522 1 1 0 TPO 7173 broad.mit.edu 37 2 1507768 1507768 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:1507768C>A ENST00000345913.4 + 14 2526 c.2435C>A c.(2434-2436)gCg>gAg p.A812E TPO_ENST00000329066.4_Missense_Mutation_p.A812E|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382201.3_Missense_Mutation_p.A755E|TPO_ENST00000382198.1_Missense_Mutation_p.A639E|TPO_ENST00000337415.3_Missense_Mutation_p.A812E|TPO_ENST00000346956.3_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.A639E NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 812 EGF-like; calcium-binding (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CACGCCTCTGCGAGGTGCAGA 0.627000 20 47 8.34094e-07 1.07921e-06 1 1 0 GRIN2D 2906 broad.mit.edu 37 19 48908574 48908574 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:48908574C>G ENST00000263269.3 + 3 1137 c.1049C>G c.(1048-1050)gCc>gGc p.A350G NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 350 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) GACTGTCGCGCCCAGAACCGC 0.647000 4 14 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20876539 20876539 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:20876539C>A ENST00000262715.5 - 2 100 c.60G>T c.(58-60)cgG>cgT p.R20R TEP1_ENST00000556935.1_Silent_p.R20R NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 20 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TAGCCAGGCACCGGTTCTCCA 0.498000 15 43 6.72482e-11 1.01151e-10 1 1 0 ZNF675 171392 broad.mit.edu 37 19 23837315 23837315 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:23837315C>A ENST00000359788.4 - 4 588 c.420G>T c.(418-420)caG>caT p.Q140H ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron NM_138330.2 NP_612203.2 Q8TD23 ZN675_HUMAN zinc finger protein 675 140 bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) ACATTTTGCTCTGCATAGTTG 0.289000 8 13 1.06961e-07 1.43088e-07 1 1 0 UGT2B11 10720 broad.mit.edu 37 4 70066379 70066379 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:70066379G>T ENST00000446444.1 - 6 1377 c.1369C>A c.(1369-1371)Ctg>Atg p.L457M RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 457 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 GCTCGATCCAGGGGCTTTACT 0.408000 28 62 1.32003e-05 1.62231e-05 1 1 0 SI 6476 broad.mit.edu 37 3 164735569 164735569 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:164735569C>G ENST00000264382.3 - 30 3675 c.3613G>C c.(3613-3615)Gca>Cca p.A1205P NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1205 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGCTTTGTTGCAACTTCTGGA 0.323000 HNSCC(35;0.089) 5 14 0 0 1 0 0 NRDE2 55051 broad.mit.edu 37 14 90778787 90778787 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:90778787C>A ENST00000354366.3 - 4 740 c.508G>T c.(508-510)Gat>Tat p.D170Y NRDE2_ENST00000357904.3_5'UTR NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing TTCGCAGGATCTGGTTTCTTA 0.458000 18 40 2.94398e-08 4.02744e-08 1 1 0 DNAH9 1770 broad.mit.edu 37 17 11666894 11666894 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:11666894C>G ENST00000262442.3 + 36 7201 c.7133C>G c.(7132-7134)gCc>gGc p.A2378G DNAH9_ENST00000454412.2_Missense_Mutation_p.A2378G NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2378 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GTGTTTGCTGCCATCTGGGCT 0.473000 19 26 0 0 1 0 0 PCSK4 54760 broad.mit.edu 37 19 1487194 1487194 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:1487194C>A ENST00000300954.5 - 7 862 c.801G>T c.(799-801)acG>acT p.T267T NM_017573.3 NP_060043.2 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 267 Catalytic (By similarity). T -> M (in dbSNP:rs36123574). proteolysis integral to membrane serine-type endopeptidase activity cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCCGTCCACCGTGCGGCCGT 0.697000 12 22 1.5842e-08 2.19035e-08 1 1 0 RPRD2 23248 broad.mit.edu 37 1 150445545 150445545 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:150445545A>T ENST00000401000.4 + 10 4108 c.4043A>T c.(4042-4044)cAt>cTt p.H1348L RPRD2_ENST00000369068.4_Missense_Mutation_p.H1374L|RPRD2_ENST00000492220.1_3'UTR Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 1374 Pro-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CTACCCTCCCATTCTCTGGAA 0.672000 11 99 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100679465 100679465 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:100679465G>A ENST00000306151.4 + 3 4832 c.4768G>A c.(4768-4770)Gct>Act p.A1590T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1590 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) CAGTTCTGAGGCTAACACCCT 0.483000 70 158 0 0 1 0 0 N4BP3 23138 broad.mit.edu 37 5 177546899 177546899 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:177546899G>T ENST00000274605.5 + 2 674 c.315G>T c.(313-315)cgG>cgT p.R105R NM_015111.1 NP_055926.1 O15049 N4BP3_HUMAN NEDD4 binding protein 3 105 cytoplasmic vesicle membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGCCAGAACGGGGTCGCTTTG 0.632000 26 54 3.6726e-16 6.23792e-16 1 1 0 BCRP7 100133163 broad.mit.edu 37 22 18846098 18846098 + RNA SNP G G A rs9306211 TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr22:18846098G>A ENST00000412938.1 + 0 3456 ATGCCTCGGCGCTCGATCTCC 0.622000 6 40 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205039171 205039171 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:205039171G>T ENST00000331830.4 + 18 2697 c.2413G>T c.(2413-2415)Gtg>Ttg p.V805L NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 805 Fibronectin type-III 2. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CACTGCACTCGTGTACTCAGC 0.647000 7 58 0.248553 0.250486 1 1 0 PPP4R4 57718 broad.mit.edu 37 14 94700993 94700993 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:94700993G>T ENST00000304338.3 + 7 872 c.718G>T c.(718-720)Gcc>Tcc p.A240S NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 240 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 AGAAAATATAGCCCAGGGCAT 0.358000 4 16 0.00024832 0.000288013 1 1 0 AMZ1 155185 broad.mit.edu 37 7 2740376 2740376 + Nonsense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:2740376C>A ENST00000312371.4 + 2 659 c.291C>A c.(289-291)taC>taA p.Y97* AMZ1_ENST00000407112.1_Nonsense_Mutation_p.Y97* NM_133463.1 NP_597720.1 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 97 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) AGCACATCTACCTACAGCCGA 0.637000 51 63 1.39843e-22 2.62603e-22 1 1 0 LILRA2 11027 broad.mit.edu 37 19 55087297 55087297 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:55087297C>A ENST00000251377.3 + 7 1109 c.976C>A c.(976-978)Ctc>Atc p.L326I LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.L326I|LILRA2_ENST00000391737.1_Missense_Mutation_p.L314I|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.L326I|LILRB1_ENST00000396321.2_Intron 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) CAGACCCTCTCTCTCGGTGCA 0.602000 12 26 9.31168e-06 1.16012e-05 1 1 0 CEACAM8 1088 broad.mit.edu 37 19 43097784 43097784 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:43097784G>T ENST00000244336.5 - 2 434 c.333C>A c.(331-333)aaC>aaA p.N111K LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 111 Ig-like V-type. immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) TTCTGGTGACGTTCCGCATCA 0.433000 51 108 6.27289e-28 1.21571e-27 1 1 0 PRAMEF2 65122 broad.mit.edu 37 1 12919054 12919054 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:12919054C>A ENST00000240189.2 + 2 277 c.190C>A c.(190-192)Ctc>Atc p.L64I NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 64 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTTCACCTGCCTCCCTCTGGT 0.567000 70 110 1.20466e-24 2.28583e-24 1 1 0 DNAH3 55567 broad.mit.edu 37 16 21031082 21031082 + Silent SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:21031082G>C ENST00000261383.3 - 41 5885 c.5886C>G c.(5884-5886)acC>acG p.T1962T DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1962 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.T1962T(2) NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGCCAGCCACGGTCCACACCA 0.493000 6 40 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170044635 170044635 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:170044635C>A ENST00000263816.3 - 49 9458 c.9173G>T c.(9172-9174)gGa>gTa p.G3058V NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3058 LDL-receptor class A 24. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGATCCGTCTCCACAGTCATT 0.517000 40 68 8.16277e-20 1.45169e-19 1 1 0 CACNA1E 777 broad.mit.edu 37 1 181732621 181732621 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:181732621G>C ENST00000526775.1 + 33 4877 c.4712G>C c.(4711-4713)gGc>gCc p.G1571A CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1590A|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1571A|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1590A|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1197A|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1541A|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1522A NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1590 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CTGCGTCAGGGCTATACCATA 0.498000 5 40 0 0 1 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725540 140725540 + Missense_Mutation SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:140725540A>G ENST00000253812.6 + 1 1940 c.1940A>G c.(1939-1941)cAg>cGg p.Q647R PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGCCGTCCAGGACCACGGC 0.716000 67 96 0 0 1 0 0 OR5R1 219479 broad.mit.edu 37 11 56185463 56185463 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:56185463C>T ENST00000312253.1 - 1 245 c.246G>A c.(244-246)atG>atA p.M82I NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) CAAAATTCACCATCATCTTCG 0.443000 4 25 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103040277 103040277 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:103040277C>A ENST00000264260.2 + 4 666 c.77C>A c.(76-78)tCc>tAc p.S26Y IL18RAP_ENST00000409369.1_Intron NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 26 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 TCAGGTTGTTCCACAAAAAAA 0.328000 7 26 0.000157383 0.000183952 1 1 0 PAPPA 5069 broad.mit.edu 37 9 118949934 118949934 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:118949934C>A ENST00000328252.3 + 2 1286 c.917C>A c.(916-918)cCc>cAc p.P306H NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 306 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GGCAGCAGCCCCAAAGTGGAA 0.572000 11 36 0.000978159 0.0011021 1 1 0 NTNG1 22854 broad.mit.edu 37 1 107937887 107937887 + Nonsense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:107937887T>A ENST00000370067.1 + 4 1626 c.999T>A c.(997-999)taT>taA p.Y333* NTNG1_ENST00000370071.2_Nonsense_Mutation_p.Y333*|NTNG1_ENST00000370074.4_Nonsense_Mutation_p.Y333*|NTNG1_ENST00000370073.2_Nonsense_Mutation_p.Y333*|NTNG1_ENST00000542803.1_Nonsense_Mutation_p.Y333*|NTNG1_ENST00000370072.3_Nonsense_Mutation_p.Y333*|NTNG1_ENST00000370061.3_Nonsense_Mutation_p.Y333*|NTNG1_ENST00000370065.1_Nonsense_Mutation_p.Y333*|NTNG1_ENST00000370066.1_Nonsense_Mutation_p.Y333*|NTNG1_ENST00000370068.1_Nonsense_Mutation_p.Y333*|NTNG1_ENST00000370070.2_Nonsense_Mutation_p.Y333* Q9Y2I2 NTNG1_HUMAN netrin G1 333 Laminin EGF-like 1. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) AGAAGAATTATCAGGGCCGAC 0.478000 10 80 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15726083 15726083 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:15726083G>T ENST00000378076.3 - 4 841 c.488C>A c.(487-489)cCa>cAa p.P163Q NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 163 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 GTCCTTTTCTGGTGTCGGTTT 0.423000 4 50 0.00909568 0.00974 1 1 0 CHST1 8534 broad.mit.edu 37 11 45671455 45671455 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:45671455G>T ENST00000308064.2 - 4 1689 c.1019C>A c.(1018-1020)cCc>cAc p.P340H NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 340 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GCCCAGGGTGGGGTCGCCCCG 0.647000 18 82 1.15919e-05 1.43435e-05 1 1 0 TAS2R1 50834 broad.mit.edu 37 5 9629852 9629852 + Nonsense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:9629852C>T ENST00000382492.2 - 1 611 c.293G>A c.(292-294)tGg>tAg p.W98* CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 98 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity p.W98*(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 AACGCCGAGCCATGTGGCAAG 0.428000 8 49 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50531252 50531252 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:50531252C>A ENST00000374144.3 + 3 950 c.662C>A c.(661-663)tCc>tAc p.S221Y C10orf71_ENST00000323868.4_Missense_Mutation_p.S221Y Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 221 endometrium(1) 1 GAACAGGAGTCCTCCAAGAAT 0.557000 7 20 0.00448238 0.00491005 1 1 0 CRIP2 1397 broad.mit.edu 37 14 105945826 105945826 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:105945826C>A ENST00000329146.4 + 7 1268 c.555C>A c.(553-555)ccC>ccA p.P185P CRIP2_ENST00000548989.1_3'UTR|CRIP2_ENST00000483017.3_Silent_p.P259P NM_001312.2 NP_001303.1 P52943 CRIP2_HUMAN cysteine-rich protein 2 185 Gly-rich. zinc ion binding lung(2) 2 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.235) TCTTCGGACCCAAGGGTGAGT 0.657000 16 55 1.02788e-11 1.58284e-11 1 1 0 KAT2B 8850 broad.mit.edu 37 3 20142850 20142850 + Missense_Mutation SNP G G T rs148725281 TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:20142850G>T ENST00000263754.4 + 5 1196 c.741G>T c.(739-741)ttG>ttT p.L247F NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 247 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 TAGTTGAGTTGGCAAAAATGT 0.403000 19 22 6.94344e-10 1.01905e-09 1 1 0 CFAP221 200373 broad.mit.edu 37 2 120388194 120388194 + Missense_Mutation SNP A A C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:120388194A>C ENST00000602047.1 + 19 2034 c.922A>C c.(922-924)Aag>Cag p.K308Q PCDP1_ENST00000413369.3_Missense_Mutation_p.K594Q Q4G0U5 PCDP1_HUMAN 594 cilium calmodulin binding Colorectal(110;0.196) CTCTGTCCACAAGTCTTCAAC 0.428000 17 31 0 0 1 0 0 MBTPS1 8720 broad.mit.edu 37 16 84135355 84135355 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:84135355C>T ENST00000343411.3 - 2 529 c.34G>A c.(34-36)Gtg>Atg p.V12M NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 12 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 AGCAAAACCACGAGCAGAAGC 0.418000 8 74 0 0 1 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213415529 213415529 + Missense_Mutation SNP G G T rs61751035 TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:213415529G>T ENST00000366960.3 + 11 2860 c.2710G>T c.(2710-2712)Ggc>Tgc p.G904C RPS6KC1_ENST00000543470.1_Missense_Mutation_p.G692C|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.G892C|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.G607C NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 904 Protein kinase 2. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) CATCCCAGAGGGCTGCATTCA 0.423000 54 34 9.57592e-29 1.85982e-28 1 1 0 B3GNT6 192134 broad.mit.edu 37 11 76751274 76751274 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:76751274G>T ENST00000533140.1 + 2 817 c.679G>T c.(679-681)Gtg>Ttg p.V227L B3GNT6_ENST00000421061.1_Missense_Mutation_p.V138L|B3GNT6_ENST00000354301.5_Missense_Mutation_p.V227L Q6ZMB0 B3GN6_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase) 227 O-glycan processing, core 3 Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity central_nervous_system(1)|kidney(2)|lung(4)|prostate(1) 8 CGACGTGTTCGTGCACACCGC 0.677000 27 51 1.17739e-12 1.86695e-12 1 1 0 BCL11A 53335 broad.mit.edu 37 2 60689360 60689360 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:60689360C>A ENST00000335712.6 - 4 914 c.687G>T c.(685-687)ggG>ggT p.G229G BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.G195G|BCL11A_ENST00000538214.1_Silent_p.G195G|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Silent_p.G229G NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 229 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CAATATGAATCCCATGGAGAG 0.532000 T IGH@ B-CLL 23 21 1.10923e-09 1.60715e-09 1 1 0 OR5P3 120066 broad.mit.edu 37 11 7847235 7847235 + Silent SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:7847235A>G ENST00000328375.1 - 1 284 c.285T>C c.(283-285)gcT>gcC p.A95A RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCACACAACCAGCAACAGGGA 0.532000 9 75 0 0 1 0 0 DPY19L3 147991 broad.mit.edu 37 19 32954383 32954383 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:32954383G>C ENST00000342179.5 + 13 1649 c.1434G>C c.(1432-1434)ttG>ttC p.L478F DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000586987.1_Missense_Mutation_p.L478F|DPY19L3_ENST00000392250.2_Missense_Mutation_p.L478F NM_207325.2 NP_997208.2 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 (C. elegans) 478 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) TCTTGGCATTGAGTACAATGA 0.343000 7 27 0 0 1 0 0 VWA7 80737 broad.mit.edu 37 6 31743763 31743763 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:31743763C>A ENST00000375686.3 - 3 728 c.491G>T c.(490-492)gGg>gTg p.G164V VWA7_ENST00000447450.1_Missense_Mutation_p.G164V|VWA7_ENST00000467576.1_Intron|VWA7_ENST00000375688.4_Missense_Mutation_p.G164V NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 164 extracellular region AAGTGCAGCCCCGAGGCGCTG 0.677000 103 77 1.32035e-51 2.62048e-51 1 1 0 ATP7B 540 broad.mit.edu 37 13 52513329 52513329 + Splice_Site SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:52513329C>A ENST00000242839.4 - 17 3713 c.3556_splice c.e17-1 p.G1186_splice ATP7B_ENST00000400370.3_Splice_Site_p.G756_splice|ATP7B_ENST00000344297.5_Splice_Site_p.G979_splice|ATP7B_ENST00000417240.2_Splice_Site_p.G397_splice|ATP7B_ENST00000418097.2_Splice_Site_p.G1121_splice|ATP7B_ENST00000400366.3_Splice_Site_p.G1075_splice|ATP7B_ENST00000448424.2_Splice_Site_p.G1108_splice NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 1186 G -> C (in WD).|G -> S (in WD; possibly not disease- causing). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) ACAGAGCACACCTGGAGCGAA 0.542000 Wilson disease 9 40 3.09899e-07 4.10933e-07 1 1 0 SLC22A6 9356 broad.mit.edu 37 11 62744699 62744699 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:62744699G>T ENST00000377871.3 - 9 1788 c.1522C>A c.(1522-1524)Ctg>Atg p.L508M SLC22A6_ENST00000458333.2_Missense_Mutation_p.L464M|SLC22A6_ENST00000360421.4_Missense_Mutation_p.L508M|SLC22A6_ENST00000421062.2_Missense_Mutation_p.L464M NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 508 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GGCTGGCCCAGGGTCTCTGGC 0.617000 35 77 1.06647e-15 1.79794e-15 1 1 0 IRX4 50805 broad.mit.edu 37 5 1880899 1880899 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:1880899G>T ENST00000505790.1 - 4 803 c.347C>A c.(346-348)gCa>gAa p.A116E IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Missense_Mutation_p.A116E|IRX4_ENST00000513692.1_Missense_Mutation_p.A116E NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 116 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) AGCGGCTGGTGCCAGGCCCCC 0.627000 16 163 0.00498961 0.0054069 1 1 0 ANK3 288 broad.mit.edu 37 10 62038859 62038859 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:62038859C>A ENST00000280772.1 - 3 455 c.264G>T c.(262-264)gaG>gaT p.E88D ANK3_ENST00000503366.1_Missense_Mutation_p.E71D|ANK3_ENST00000373827.2_Missense_Mutation_p.E82D NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 88 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 CAGAAACAACCTCTACATGGC 0.433000 7 35 1.06961e-07 1.43088e-07 1 1 0 IL4R 3566 broad.mit.edu 37 16 27373982 27373982 + Nonsense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:27373982G>T ENST00000395762.2 + 11 1568 c.1309G>T c.(1309-1311)Gga>Tga p.G437* IL4R_ENST00000543915.2_Nonsense_Mutation_p.G437*|IL4R_ENST00000170630.2_Nonsense_Mutation_p.G437*|IL4R_ENST00000380922.3_Nonsense_Mutation_p.G422* NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 437 Required for IRS1 activation and IL4- induced cell growth. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 TCCACCTTCGGGAAGTACGAG 0.622000 16 72 4.7546e-09 6.70673e-09 1 1 0 ADAM30 11085 broad.mit.edu 37 1 120438671 120438671 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:120438671C>G ENST00000369400.1 - 1 447 c.289G>C c.(289-291)Ggg>Cgg p.G97R NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 97 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) AGCAGTTCCCCATGTTCTGTG 0.488000 5 58 0 0 1 0 0 TMEM174 134288 broad.mit.edu 37 5 72469086 72469086 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:72469086G>T ENST00000296776.5 + 1 65 c.16G>T c.(16-18)Ggc>Tgc p.G6C NM_153217.2 NP_694949.1 Q8WUU8 TM174_HUMAN transmembrane protein 174 6 integral to membrane endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.46e-54) GCAGGGCAGCGGCCGCTTGGA 0.547000 40 73 1.49673e-21 2.74805e-21 1 1 0 LY75 4065 broad.mit.edu 37 2 160714977 160714977 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:160714977C>A ENST00000263636.4 - 16 2306 c.2279G>T c.(2278-2280)aGg>aTg p.R760M LY75_ENST00000554112.1_Missense_Mutation_p.R760M|LY75_ENST00000553424.1_Missense_Mutation_p.R760M|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R760M|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R760M NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) TCGCCATGGCCTATGAAATAC 0.363000 8 19 1.12685e-05 1.39625e-05 1 1 0 GDF10 2662 broad.mit.edu 37 10 48428975 48428975 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:48428975G>C ENST00000224605.2 - 2 1176 c.911C>G c.(910-912)cCg>cGg p.P304R NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 304 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 ATCCAGCCCCGGCAGCTCGTT 0.756000 7 18 0 0 1 0 0 NSUN3 63899 broad.mit.edu 37 3 93845162 93845162 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:93845162G>C ENST00000314622.4 + 6 1062 c.851G>C c.(850-852)gGt>gCt p.G284A NM_022072.3 NP_071355.1 Q9H649 NSUN3_HUMAN NOP2/Sun domain family, member 3 284 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 18 AACTCCCACGGTAACATCATG 0.448000 7 30 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121228646 121228646 + Nonsense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr8:121228646C>T ENST00000297848.3 + 14 1924 c.1654C>T c.(1654-1656)Cga>Tga p.R552* COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Nonsense_Mutation_p.R457*|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.R552* NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 552 Fibronectin type-III 4. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TAACAGTGCTCGATTAACCTG 0.383000 33 37 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16287604 16287604 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr22:16287604G>T ENST00000343518.6 - 1 333 c.282C>A c.(280-282)ctC>ctA p.L94L NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 94 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TCTTGCTCCTGAGTGTCTTCA 0.612000 30 323 3.54561e-26 6.82774e-26 1 1 0 SAMD9L 219285 broad.mit.edu 37 7 92763228 92763228 + Missense_Mutation SNP T T G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:92763228T>G ENST00000318238.4 - 5 3273 c.2057A>C c.(2056-2058)cAc>cCc p.H686P SAMD9L_ENST00000411955.1_Missense_Mutation_p.H686P|SAMD9L_ENST00000437805.1_Missense_Mutation_p.H686P NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 686 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TCGATAAAAGTGTTCTTCTTT 0.348000 18 22 0 0 1 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31126585 31126585 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:31126585G>T ENST00000304166.4 + 11 1141 c.852G>T c.(850-852)tgG>tgT p.W284C ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.W284C|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.W284C|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.W263C NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 284 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 TGACAGTGTGGGCTACGCTGA 0.512000 61 47 5.10652e-33 1.00251e-32 1 1 0 ZNF804B 219578 broad.mit.edu 37 7 88963552 88963552 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:88963552G>A ENST00000333190.4 + 4 1865 c.1256G>A c.(1255-1257)aGa>aAa p.R419K NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 419 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AAAACAGAAAGAGTTAGCAAA 0.378000 HNSCC(36;0.09) 12 12 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108447982 108447982 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:108447982C>A ENST00000263054.6 - 10 1535 c.1528G>T c.(1528-1530)Gat>Tat p.D510Y SORCS1_ENST00000344440.6_Missense_Mutation_p.D510Y|SORCS1_ENST00000369698.1_Missense_Mutation_p.D45Y NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 510 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CCCCTTAGATCCGTGTCCGGC 0.493000 8 52 0.00448238 0.00491005 1 1 0 NOD2 64127 broad.mit.edu 37 16 50745427 50745427 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:50745427G>T ENST00000300589.2 + 4 1710 c.1605G>T c.(1603-1605)ctG>ctT p.L535L NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 535 NACHT. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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 cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) CCCAAGGTCTGGGACCCAGTC 0.622000 34 36 3.21399e-22 5.94917e-22 1 1 0 BSN 8927 broad.mit.edu 37 3 49694657 49694657 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:49694657G>T ENST00000296452.4 + 5 7782 c.7668G>T c.(7666-7668)cgG>cgT p.R2556R NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2556 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TCAAGAAGCGGCACTCCATGC 0.627000 6 46 0.217242 0.219419 1 1 0 C12orf40 283461 broad.mit.edu 37 12 40076718 40076718 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:40076718G>T ENST00000324616.5 + 8 1146 c.992G>T c.(991-993)tGt>tTt p.C331F C12orf40_ENST00000405531.3_Missense_Mutation_p.C331F|C12orf40_ENST00000398716.1_Missense_Mutation_p.C254F NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 331 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 GGAGATACTTGTGTAGTCACT 0.299000 3 14 0.00024832 0.000288013 1 1 0 OR52H1 390067 broad.mit.edu 37 11 5565860 5565860 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:5565860C>A ENST00000322653.4 - 1 919 c.894G>T c.(892-894)atG>atT p.M298I HBG2_ENST00000380259.2_Intron NM_001005289.1 NP_001005289.1 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, member 1 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCCGTAAACCATGGGGTTGA 0.433000 17 42 1.67942e-08 2.31143e-08 1 1 0 MYH1 4619 broad.mit.edu 37 17 10404629 10404629 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:10404629C>A ENST00000226207.5 - 27 3630 c.3536G>T c.(3535-3537)cGc>cTc p.R1179L 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 1179 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 CAGGTCCCTGCGCATTTTCTG 0.602000 94 77 6.68332e-26 1.28156e-25 1 1 0 HIST2H2BB 338391 broad.mit.edu 37 1 149375147 149375147 + RNA SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:149375147C>A ENST00000415338.1 - 0 1061 GAATTCTAACCTCACCATTCT 0.433000 8 119 0.0581538 0.05987 1 1 0 GRID1 2894 broad.mit.edu 37 10 87482767 87482767 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:87482767G>A ENST00000327946.7 - 12 2075 c.1990C>T c.(1990-1992)Ccc>Tcc p.P664S GRID1_ENST00000536331.1_Missense_Mutation_p.P235S NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 664 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) TACCTTATGGGGTTGTCCATC 0.537000 Multiple Myeloma(13;0.14) 5 17 0 0 1 0 0 OR51B5 282763 broad.mit.edu 37 11 5363988 5363988 + Missense_Mutation SNP A A C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:5363988A>C ENST00000300773.2 - 1 821 c.767T>G c.(766-768)tTg>tGg p.L256W HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AATCAGAGACAATCCAATCAC 0.443000 17 25 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71576136 71576136 + Nonsense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:71576136C>T ENST00000409544.1 + 2 682 c.52C>T c.(52-54)Cga>Tga p.R18* ZNF638_ENST00000264447.4_Nonsense_Mutation_p.R18*|ZNF638_ENST00000377802.2_Nonsense_Mutation_p.R18*|ZNF638_ENST00000355812.3_Nonsense_Mutation_p.R18*|ZNF638_ENST00000410075.1_3'UTR NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 18 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TCAAAGGCCACGAGCACCTAA 0.478000 36 55 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135405349 135405349 + Silent SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:135405349G>A ENST00000394143.1 + 5 774 c.483G>A c.(481-483)ggG>ggA p.G161G GPR112_ENST00000370652.1_Silent_p.G161G|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000287534.4_Silent_p.G98G NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 161 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TGTTCCTAGGGCACTTTCTCA 0.463000 12 45 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38943521 38943521 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:38943521C>A ENST00000355481.4 + 13 1438 c.1307C>A c.(1306-1308)cCc>cAc p.P436H RYR1_ENST00000360985.3_Missense_Mutation_p.P436H|RYR1_ENST00000359596.3_Missense_Mutation_p.P436H NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 436 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACGGCGCTGCCCATCGAGGGC 0.662000 5 17 0.000602214 0.000682761 1 1 0 ENO1 2023 broad.mit.edu 37 1 8921448 8921448 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:8921448T>A ENST00000234590.4 - 12 1395 c.1276A>T c.(1276-1278)Agg>Tgg p.R426W NM_001428.3 NP_001419.1 P06733 ENOA_HUMAN enolase 1, (alpha) 426 Required for interaction with PLG (By similarity). gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus phosphopyruvate hydratase complex|plasma membrane|sarcomere DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 10 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) CTGAAGTTCCTGCCGGCAAAC 0.532000 24 37 0 0 1 0 0 CLPX 10845 broad.mit.edu 37 15 65443174 65443174 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr15:65443174G>A ENST00000300107.3 - 14 2077 c.1889C>T c.(1888-1890)gCt>gTt p.A630V NM_006660.3 NP_006651.2 O76031 CLPX_HUMAN caseinolytic mitochondrial matrix peptidase chaperone subunit 630 protein folding|proteolysis involved in cellular protein catabolic process mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 16 GCTGTTTGCAGCATCTGCTTG 0.403000 13 49 0 0 1 0 0 DARC 2532 broad.mit.edu 37 1 159175265 159175265 + Silent SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:159175265C>G ENST00000537147.1 + 3 879 c.36C>G c.(34-36)ccC>ccG p.P12P DARC_ENST00000368122.2_Silent_p.P12P|DARC_ENST00000368121.2_Silent_p.P14P Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 12 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) AGCTCTCCCCCTCAACTGAGA 0.542000 10 88 0 0 1 0 0 TMEM39B 55116 broad.mit.edu 37 1 32542878 32542878 + Silent SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:32542878C>T ENST00000427288.1 + 6 684 c.204C>T c.(202-204)ttC>ttT p.F68F TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Intron|TMEM39B_ENST00000456834.2_Intron|TMEM39B_ENST00000336294.5_Silent_p.F183F Q9GZU3 TM39B_HUMAN transmembrane protein 39B 183 integral to membrane endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) TCCACCTCTTCAGGACCTACT 0.597000 18 95 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 132051815 132051815 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr8:132051815G>T ENST00000286355.5 - 1 2857 c.765C>A c.(763-765)acC>acA p.T255T ADCY8_ENST00000377928.3_Silent_p.T255T NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 255 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CCAGGATCTGGGTGGTCATGG 0.642000 HNSCC(32;0.087) 5 69 0.0215528 0.0224952 1 1 0 OR4M1 441670 broad.mit.edu 37 14 20249289 20249289 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:20249289G>C ENST00000315957.4 + 1 889 c.808G>C c.(808-810)Gat>Cat p.D270H NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATTTTCCCTAGATAAAGTGGT 0.418000 10 155 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27950638 27950638 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:27950638G>T ENST00000379992.2 - 6 481 c.32C>A c.(31-33)cCa>cAa p.P11Q LINGO2_ENST00000308675.3_Missense_Mutation_p.P11Q NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 11 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) ACCCAGGAATGGCTGCCAGCA 0.537000 3 20 0.004672 0.00506878 1 1 0 IFI27L1 122509 broad.mit.edu 37 14 94568273 94568273 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:94568273G>T ENST00000556381.1 + 5 507 c.172G>T c.(172-174)Ggg>Tgg p.G58W IFI27L1_ENST00000553664.1_Missense_Mutation_p.R81L|IFI27L1_ENST00000555523.1_Missense_Mutation_p.G59W|IFI27L1_ENST00000554562.1_Missense_Mutation_p.G59W|IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000393115.3_Missense_Mutation_p.G59W|IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000557066.1_Intron Q96BM0 I27L1_HUMAN interferon, alpha-inducible protein 27-like 1 59 integral to membrane lung(2) 2 CATTGCCAACGGGGGCGGAGT 0.592000 18 44 6.94344e-10 1.01905e-09 1 1 0 SHOX 6473 broad.mit.edu 37 X 591664 591664 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:591664C>A ENST00000381578.1 + 2 723 c.32C>A c.(31-33)tCt>tAt p.S11Y SHOX_ENST00000554971.1_Missense_Mutation_p.S11Y|SHOX_ENST00000334060.3_Missense_Mutation_p.S11Y|SHOX_ENST00000381575.1_Missense_Mutation_p.S11Y NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 11 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GTATCCAAGTCTTTTGACCAG 0.637000 104 196 2.25052e-35 4.45682e-35 1 1 0 ZPLD1 131368 broad.mit.edu 37 3 102171826 102171826 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:102171826C>A ENST00000306176.1 + 3 318 c.218C>A c.(217-219)aCg>aAg p.T73K ZPLD1_ENST00000491959.1_Missense_Mutation_p.T57K|ZPLD1_ENST00000466937.1_Missense_Mutation_p.T57K NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 57 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 AATTTTTGCACGGTACTTTTC 0.403000 7 43 0.27861 0.280155 1 1 0 ATP2B2 491 broad.mit.edu 37 3 10417305 10417305 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:10417305C>A ENST00000397077.1 - 10 1665 c.1090G>T c.(1090-1092)Gtg>Ttg p.V364L ATP2B2_ENST00000383800.4_Missense_Mutation_p.V364L|ATP2B2_ENST00000360273.2_Missense_Mutation_p.V409L|ATP2B2_ENST00000343816.4_Missense_Mutation_p.V395L|ATP2B2_ENST00000352432.4_Missense_Mutation_p.V409L Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 409 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 AGGATGATCACCGTGATGGCT 0.562000 19 19 1.00905e-13 1.6431e-13 1 1 0 MAPT 4137 broad.mit.edu 37 17 44068923 44068923 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:44068923C>A ENST00000344290.5 + 9 1800 c.1478C>A c.(1477-1479)cCg>cAg p.P493Q MAPT_ENST00000262410.5_Missense_Mutation_p.P493Q|MAPT_ENST00000574436.1_Missense_Mutation_p.P176Q|MAPT_ENST00000351559.5_Missense_Mutation_p.P176Q|MAPT_ENST00000571987.1_Missense_Mutation_p.P493Q|MAPT_ENST00000340799.5_Missense_Mutation_p.P147Q|MAPT_ENST00000347967.5_Missense_Mutation_p.P82Q|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000535772.1_Missense_Mutation_p.P176Q|MAPT_ENST00000446361.3_Missense_Mutation_p.P118Q|MAPT_ENST00000431008.3_Missense_Mutation_p.P176Q|MAPT_ENST00000415613.2_Missense_Mutation_p.P493Q|MAPT_ENST00000420682.2_Missense_Mutation_p.P147Q|MAPT_ENST00000576518.1_Missense_Mutation_p.P107Q|MAPT_ENST00000334239.8_Missense_Mutation_p.P118Q NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 493 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) GCAAAAACCCCGCCCGCTCCA 0.572000 68 54 4.98926e-31 9.77378e-31 1 1 0 IGKV1-9 28941 broad.mit.edu 37 2 89309485 89309485 + RNA SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:89309485A>G ENST00000493819.1 - 0 402 TGGGAGGGTAACTATTAAGCT 0.512000 21 112 0 0 1 0 0 REST 5978 broad.mit.edu 37 4 57797989 57797989 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:57797989G>C ENST00000309042.7 + 4 3279 c.2965G>C c.(2965-2967)Gca>Cca p.A989P NM_001193508.1|NM_005612.4 NP_001180437.1|NP_005603.3 Q13127 REST_HUMAN RE1-silencing transcription factor 989 cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) GTCCAAAACTGCACTGGCATC 0.448000 10 21 0 0 1 0 0 SLC6A9 6536 broad.mit.edu 37 1 44468288 44468288 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:44468288C>A ENST00000372310.3 - 7 919 c.754G>T c.(754-756)Gtg>Ttg p.V252L SLC6A9_ENST00000475075.2_Missense_Mutation_p.V141L|SLC6A9_ENST00000360584.2_Missense_Mutation_p.V325L|SLC6A9_ENST00000357730.2_Missense_Mutation_p.V271L|SLC6A9_ENST00000537678.1_Missense_Mutation_p.V187L|SLC6A9_ENST00000372306.3_Missense_Mutation_p.V252L|SLC6A9_ENST00000372307.3_Missense_Mutation_p.V187L NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 325 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) GTCAGCACCACGTAGGGGAAC 0.617000 8 86 1.12685e-05 1.39625e-05 1 1 0 EIF5B 9669 broad.mit.edu 37 2 99980763 99980763 + Missense_Mutation SNP G G T rs3208852 TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:99980763G>T ENST00000289371.5 + 6 1369 c.1167G>T c.(1165-1167)agG>agT p.R389S NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 389 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 aaagagaaaggaaaaagcaaa 0.333000 18 41 2.35188e-11 3.59723e-11 1 1 0 SMOX 54498 broad.mit.edu 37 20 4167442 4167442 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr20:4167442C>G ENST00000278795.3 + 8 1649 c.1424C>G c.(1423-1425)cCa>cGa p.P475R SMOX_ENST00000346595.2_Intron|SMOX_ENST00000305958.4_Intron|SMOX_ENST00000379460.2_Intron|SMOX_ENST00000339123.6_Intron NM_175842.1 NP_787036.1 Q9NWM0 SMOX_HUMAN spermine oxidase 510 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) tccaagtgcccagaacagccc 0.478000 40 31 0 0 1 0 0 AOC1 26 broad.mit.edu 37 7 150553883 150553883 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:150553883C>G ENST00000493429.1 + 4 909 c.325C>G c.(325-327)Ccc>Gcc p.P109A AOC1_ENST00000360937.4_Missense_Mutation_p.P109A|AOC1_ENST00000467291.1_Missense_Mutation_p.P109A|AOC1_ENST00000416793.2_Missense_Mutation_p.P109A amine oxidase, copper containing 1 CCAGGAGCATCCCAATGTCAC 0.607000 12 82 0 0 1 0 0 OR2D3 120775 broad.mit.edu 37 11 6942352 6942352 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:6942352G>T ENST00000317834.3 + 1 148 c.120G>T c.(118-120)caG>caT p.Q40H NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q40Q(1) breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TGCAGACCCAGATCCTGCTAT 0.438000 13 41 2.27111e-07 3.02038e-07 1 1 0 CNTN2 6900 broad.mit.edu 37 1 205031666 205031666 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:205031666C>A ENST00000331830.4 + 10 1493 c.1209C>A c.(1207-1209)acC>acA p.T403T NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 403 Ig-like C2-type 4. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AGCACGGTACCATCTACGCCA 0.592000 17 56 4.14922e-12 6.46622e-12 1 1 0 ATP2B1 490 broad.mit.edu 37 12 89995157 89995157 + Missense_Mutation SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:89995157T>C ENST00000428670.3 - 19 3570 c.3114A>G c.(3112-3114)atA>atG p.I1038M ATP2B1_ENST00000348959.3_Intron|ATP2B1_ENST00000261173.2_Missense_Mutation_p.I1038M|ATP2B1_ENST00000359142.3_Missense_Mutation_p.I1038M|ATP2B1_ENST00000393164.2_Missense_Mutation_p.I781M P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 1038 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 GCCACTGTTCTATTGAAAGTT 0.308000 15 24 0 0 1 0 0 KIAA0947 23379 broad.mit.edu 37 5 5462151 5462151 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:5462151G>T ENST00000296564.7 + 13 2926 c.2704G>T c.(2704-2706)Gca>Tca p.A902S NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 902 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 GTCAACTGTAGCAAAATGTGA 0.428000 8 76 0.000157383 0.000183952 1 1 0 TNRC6A 27327 broad.mit.edu 37 16 24815581 24815581 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:24815581G>T ENST00000395799.3 + 12 3907 c.3778G>T c.(3778-3780)Ggt>Tgt p.G1260C TNRC6A_ENST00000315183.7_Missense_Mutation_p.G1260C|CTD-2515A14.1_ENST00000568895.1_RNA NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1260 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) GAAAGGCCCTGGTTCTCGGCC 0.398000 4 27 0.00024832 0.000288013 1 1 0 IARS2 55699 broad.mit.edu 37 1 220310248 220310248 + Nonsense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:220310248G>T ENST00000366922.1 + 16 2159 c.1828G>T c.(1828-1830)Gga>Tga p.G610* IARS2_ENST00000302637.5_Nonsense_Mutation_p.G682* Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 682 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) CGTTAATGGAGGACAAGTAGG 0.348000 12 9 7.03913e-09 9.86783e-09 1 1 0 TRPA1 8989 broad.mit.edu 37 8 72977738 72977738 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr8:72977738G>A ENST00000262209.4 - 4 707 c.500C>T c.(499-501)aCa>aTa p.T167I NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 167 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) GATCACAGCTGTGTTTCCATT 0.338000 3 28 0 0 1 0 0 ELAVL4 1996 broad.mit.edu 37 1 50661258 50661258 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:50661258C>A ENST00000371824.1 + 5 791 c.534C>A c.(532-534)atC>atA p.I178I ELAVL4_ENST00000371819.1_Silent_p.I183I|ELAVL4_ENST00000371821.1_Silent_p.I183I|ELAVL4_ENST00000357083.4_Silent_p.I195I|ELAVL4_ENST00000448907.2_Silent_p.I181I|ELAVL4_ENST00000371827.1_Silent_p.I178I|ELAVL4_ENST00000371823.4_Silent_p.I178I P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 178 RRM 2. 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 TGGGATTCATCCGCTTTGATA 0.498000 36 54 1.04594e-18 1.82787e-18 1 1 0 PLEK 5341 broad.mit.edu 37 2 68607961 68607961 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:68607961G>T ENST00000234313.7 + 3 484 c.305G>T c.(304-306)tGc>tTc p.C102F NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 102 actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) GCCATTAAATGCATTGAAGGA 0.468000 15 81 7.93312e-07 1.02938e-06 1 1 0 PTCHD3 374308 broad.mit.edu 37 10 27702722 27702722 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:27702722C>G ENST00000438700.3 - 1 575 c.458G>C c.(457-459)gGc>gCc p.G153A NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 153 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GAAGCCGGTGCCCAGCGCGGC 0.677000 20 162 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141819810 141819810 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:141819810G>T ENST00000389484.3 - 8 2017 c.1046C>A c.(1045-1047)gCc>gAc p.A349D NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 349 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTCCACTTTGGCGACATTCCC 0.453000 TSP Lung(27;0.18) 17 32 3.41278e-10 5.06611e-10 1 1 0 TMPRSS15 5651 broad.mit.edu 37 21 19770542 19770542 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr21:19770542C>T ENST00000284885.3 - 2 283 c.250G>A c.(250-252)Gtt>Att p.V84I NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 84 SEA. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 AAAGCAAGAACTTTGAAATCC 0.378000 4 15 0 0 1 0 0 TRDMT1 1787 broad.mit.edu 37 10 17199674 17199674 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:17199674C>A ENST00000377799.3 - 8 700 c.653G>T c.(652-654)gGc>gTc p.G218V TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000351358.4_Missense_Mutation_p.G172V|TRDMT1_ENST00000457442.2_Missense_Mutation_p.G137V|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000412821.3_Missense_Mutation_p.G194V|TRDMT1_ENST00000488990.1_Missense_Mutation_p.G95V NM_004412.5 NP_004403.1 O14717 TRDMT_HUMAN tRNA aspartic acid methyltransferase 1 218 tRNA processing nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 18 CTGTATGCTGCCATCAAAGCT 0.338000 6 11 0.0215528 0.0224952 1 1 0 NINL 22981 broad.mit.edu 37 20 25456920 25456920 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr20:25456920C>A ENST00000278886.6 - 17 3080 c.3007G>T c.(3007-3009)Ggc>Tgc p.G1003C NINL_ENST00000422516.1_Intron NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 1003 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 TCCAGGGCGCCCTCGGCCCGG 0.677000 58 61 9.77497e-20 1.72825e-19 1 1 0 TNR 7143 broad.mit.edu 37 1 175348772 175348772 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:175348772C>A ENST00000367674.1 - 9 2587 c.1879G>T c.(1879-1881)Gtg>Ttg p.V627L TNR_ENST00000263525.2_Missense_Mutation_p.V627L NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 627 Fibronectin type-III 4. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GTGCTGTACACAACCTTGTAC 0.557000 21 18 0.000132079 0.000155984 1 1 0 PIK3AP1 118788 broad.mit.edu 37 10 98405368 98405368 + Nonsense_Mutation SNP C C A rs35761788 TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:98405368C>A ENST00000339364.5 - 8 1356 c.1237G>T c.(1237-1239)Gag>Tag p.E413* PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Nonsense_Mutation_p.E235* NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 413 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) TCAGCCTCCTCCCCGTGCATC 0.552000 9 44 3.86212e-05 4.6213e-05 1 1 0 CCDC14 64770 broad.mit.edu 37 3 123666039 123666039 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:123666039T>A ENST00000485727.1 - 4 4948 c.356A>T c.(355-357)gAc>gTc p.D119V CCDC14_ENST00000433542.2_Missense_Mutation_p.D278V|CCDC14_ENST00000310351.4_Missense_Mutation_p.D159V|CCDC14_ENST00000488653.2_Missense_Mutation_p.D319V|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Missense_Mutation_p.D119V Q49A88 CCD14_HUMAN coiled-coil domain containing 14 319 centrosome NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10) 21 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) AGCTGATATGTCAGTTTTGGG 0.398000 7 26 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578457 7578457 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:7578457C>A ENST00000420246.2 - 5 605 c.473G>T c.(472-474)cGc>cTc p.R158L TP53_ENST00000359597.4_Missense_Mutation_p.R158L|TP53_ENST00000455263.2_Missense_Mutation_p.R158L|TP53_ENST00000269305.4_Missense_Mutation_p.R158L|TP53_ENST00000413465.2_Missense_Mutation_p.R158L|TP53_ENST00000445888.2_Missense_Mutation_p.R158L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 158 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCCATGGCGCGGACGCGGGT 0.627000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 48 43 1.81118e-26 3.4952e-26 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77616483 77616483 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr8:77616483G>C ENST00000521891.2 + 2 608 c.160G>C c.(160-162)Gat>Cat p.D54H ZFHX4_ENST00000518282.1_Missense_Mutation_p.D54H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D54H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D54H NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 54 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) CCTGAAAACGGATGAGCGCAA 0.507000 HNSCC(33;0.089) 43 37 0 0 1 0 0 TBX5 6910 broad.mit.edu 37 12 114803929 114803929 + Nonsense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:114803929G>T ENST00000526441.1 - 7 1022 c.1023C>A c.(1021-1023)taC>taA p.Y341* TBX5_ENST00000349716.5_Intron|TBX5_ENST00000405440.2_Intron|TBX5_ENST00000310346.4_Intron Q99593 TBX5_HUMAN T-box 5 0 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) AAAGGAAAAGGTAAGAAAGAA 0.398000 11 24 1.58986e-06 2.03673e-06 1 1 0 HTR1A 3350 broad.mit.edu 37 5 63257256 63257256 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:63257256C>A ENST00000323865.3 - 1 524 c.291G>T c.(289-291)caG>caT p.Q97H RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 97 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TGTTGAGCACCTGATACAGCG 0.592000 7 51 0.0293803 0.0305596 1 1 0 COL1A1 1277 broad.mit.edu 37 17 48269889 48269889 + Splice_Site SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:48269889C>A ENST00000225964.5 - 29 2048 c.1929_splice c.e29-1 p.G644_splice NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 644 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) CCAGGGAGACCCTGTAGGTGG 0.577000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 29 32 7.76418e-22 1.42842e-21 1 1 0 TRAV18 28665 broad.mit.edu 37 14 22471659 22471659 + RNA SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:22471659G>T ENST00000390446.3 + 0 187 CCAGACAGAAGGCCCAGTTAC 0.453000 8 45 5.18039e-06 6.4898e-06 1 1 0 NTNG2 84628 broad.mit.edu 37 9 135073902 135073902 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:135073902C>A ENST00000393229.3 + 3 1539 c.763C>A c.(763-765)Cgg>Agg p.R255R NTNG2_ENST00000393228.4_Silent_p.R255R|NTNG2_ENST00000360670.3_Silent_p.R255R|NTNG2_ENST00000372179.3_Silent_p.R255R NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 255 Laminin N-terminal. axonogenesis anchored to plasma membrane central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) CCTGCGCATGCGGCTGCTGCG 0.632000 7 84 0.248553 0.250486 1 1 0 LPHN3 23284 broad.mit.edu 37 4 62903462 62903462 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:62903462A>T ENST00000512091.1 + 23 4148 c.3401A>T c.(3400-3402)tAt>tTt p.Y1134F LPHN3_ENST00000509896.1_Missense_Mutation_p.Y1202F|LPHN3_ENST00000514996.1_Missense_Mutation_p.Y1125F|LPHN3_ENST00000508946.1_Missense_Mutation_p.Y1134F|LPHN3_ENST00000511324.1_Missense_Mutation_p.Y1193F|LPHN3_ENST00000514157.1_Missense_Mutation_p.Y1125F|LPHN3_ENST00000507164.1_Missense_Mutation_p.Y1193F|LPHN3_ENST00000545650.1_Missense_Mutation_p.Y1134F|LPHN3_ENST00000508693.1_Missense_Mutation_p.Y1202F|LPHN3_ENST00000514591.1_Missense_Mutation_p.Y1134F|LPHN3_ENST00000506746.1_Missense_Mutation_p.Y1193F|LPHN3_ENST00000507625.1_Missense_Mutation_p.Y1193F|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y1202F|LPHN3_ENST00000506700.1_Missense_Mutation_p.Y1125F|LPHN3_ENST00000504896.1_Missense_Mutation_p.Y1134F Q9HAR2 LPHN3_HUMAN latrophilin 3 1112 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CGAAAAGAGTATGGGAAATGC 0.393000 16 26 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182347373 182347373 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:182347373G>T ENST00000397033.2 + 9 1466 c.1036G>T c.(1036-1038)Ggc>Tgc p.G346C NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 346 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) CATCAACTCTGGCTCGGTATG 0.458000 21 78 1.10923e-09 1.60715e-09 1 1 0 ATP1A2 477 broad.mit.edu 37 1 160106048 160106048 + Silent SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:160106048C>T ENST00000361216.3 + 18 2540 c.2451C>T c.(2449-2451)atC>atT p.I817I ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.I817I NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 817 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TCCCTGCCATCTCCTTGGCCT 0.542000 9 87 0 0 1 0 0 GPR39 2863 broad.mit.edu 37 2 133403028 133403028 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:133403028G>C ENST00000329321.3 + 2 1680 c.1211G>C c.(1210-1212)aGa>aCa p.R404T LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 404 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCTGCAAGGAGAACTGAGAAG 0.602000 27 98 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30935306 30935306 + Nonsense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:30935306C>A ENST00000355537.3 + 2 984 c.837C>A c.(835-837)tgC>tgA p.C279* NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GTACCTTCTGCAAGGGCAAGT 0.672000 11 33 4.68919e-08 6.38603e-08 1 1 0 HIST1H4B 8366 broad.mit.edu 37 6 26027237 26027237 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:26027237C>G ENST00000377364.3 - 1 243 c.244G>C c.(244-246)Gtc>Ctc p.V82L NM_003544.2 NP_003535.1 P62805 H4_HUMAN histone cluster 1, H4b 82 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 13 ATGGCAGTGACAGTCTTGCGC 0.537000 OREG0017238 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 36 0 0 1 0 0 MIOX 55586 broad.mit.edu 37 22 50926118 50926118 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr22:50926118A>T ENST00000395732.3 + 3 146 c.124A>T c.(124-126)Acc>Tcc p.T42S MIOX_ENST00000395733.3_Missense_Mutation_p.T42S|MIOX_ENST00000216075.6_Missense_Mutation_p.T42S Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 42 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 13 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|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) CCGTGTCTTCACCACCTACAA 0.667000 9 30 0 0 1 0 0 OSBPL6 114880 broad.mit.edu 37 2 179255867 179255867 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:179255867T>A ENST00000190611.4 + 22 2745 c.2369T>A c.(2368-2370)gTg>gAg p.V790E OSBPL6_ENST00000409631.1_Missense_Mutation_p.V754E|OSBPL6_ENST00000359685.3_Missense_Mutation_p.V754E|OSBPL6_ENST00000392505.2_Missense_Mutation_p.V815E|OSBPL6_ENST00000315022.2_Missense_Mutation_p.V794E|OSBPL6_ENST00000409045.3_Missense_Mutation_p.V759E NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 790 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) GGGAAGGCGGTGTACCGGCTG 0.498000 9 82 0 0 1 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118220584 118220584 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:118220584C>A ENST00000369230.3 + 6 818 c.672C>A c.(670-672)atC>atA p.I224I NM_001011709.2 NP_001011709.2 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 224 lipid catabolic process extracellular region triglyceride lipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) CAGCTCGCATCCTCTTTGAGC 0.413000 8 45 1.06961e-07 1.43088e-07 1 1 0 ZSCAN4 201516 broad.mit.edu 37 19 58190208 58190208 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:58190208C>A ENST00000318203.5 + 5 1934 c.1237C>A c.(1237-1239)Cgc>Agc p.R413S NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 413 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CACATACCACCGCCATATGAG 0.458000 13 43 9.31168e-06 1.16012e-05 1 1 0 JAKMIP2 9832 broad.mit.edu 37 5 147023660 147023660 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:147023660C>A ENST00000265272.5 - 7 1652 c.1185G>T c.(1183-1185)caG>caT p.Q395H JAKMIP2_ENST00000507386.1_Missense_Mutation_p.Q395H|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.Q353H NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 395 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTCAATGACCTGAAGTTTTA 0.383000 7 17 0.00198382 0.00219698 1 1 0 EGFLAM 133584 broad.mit.edu 37 5 38370498 38370498 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:38370498G>A ENST00000322350.5 + 6 992 c.646G>A c.(646-648)Gtg>Atg p.V216M EGFLAM_ENST00000354891.3_Missense_Mutation_p.V216M NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 216 Fibronectin type-III 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) CCAGTTTGCCGTGAGGGCAAT 0.567000 6 66 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105416925 105416925 + Silent SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:105416925C>G ENST00000333244.5 - 7 4982 c.4863G>C c.(4861-4863)ctG>ctC p.L1621L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1621 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCATGCTGGACAGAGACATCT 0.617000 33 234 0 0 1 0 0 MPPED2 744 broad.mit.edu 37 11 30435838 30435838 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:30435838G>T ENST00000448418.2 - 6 1063 c.703C>A c.(703-705)Ctg>Atg p.L235M MPPED2_ENST00000358117.5_Missense_Mutation_p.L235M|MPPED2_ENST00000524667.1_5'UTR NM_001145399.1 NP_001138871.1 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 235 nervous system development hydrolase activity|metal ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2) 33 GTGTTTAACAGCTCCACACAG 0.448000 5 39 0.00198382 0.00219698 1 1 0 F2 2147 broad.mit.edu 37 11 46748302 46748302 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:46748302G>T ENST00000311907.5 + 9 1101 c.1045G>T c.(1045-1047)Gac>Tac p.D349Y F2_ENST00000530231.1_Missense_Mutation_p.D349Y NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 349 D -> N (in Ref. 10; AA sequence). activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) GTCGCTGGAGGACAAAACCGA 0.612000 28 41 3.73808e-20 6.6741e-20 1 1 0 BDP1 55814 broad.mit.edu 37 5 70845414 70845414 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:70845414G>C ENST00000358731.4 + 34 7239 c.6976G>C c.(6976-6978)Gaa>Caa p.E2326Q BDP1_ENST00000380675.2_Intron NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 2326 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AGTGAATACCGAAGAAAGGGG 0.413000 7 19 0 0 1 0 0 R3HDML 140902 broad.mit.edu 37 20 42969881 42969881 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr20:42969881C>G ENST00000217043.2 + 2 479 c.307C>G c.(307-309)Cag>Gag p.Q103E NM_178491.2 NP_848586.1 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like 103 extracellular region peptidase inhibitor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14) 21 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) CTGGGCCACCCAGTGCATCTG 0.592000 6 70 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118949475 118949475 + Nonsense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:118949475G>A ENST00000328252.3 + 2 827 c.458G>A c.(457-459)tGg>tAg p.W153* NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 153 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GACCGAGGATGGGTCGTGGGC 0.478000 10 39 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62903464 62903464 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:62903464G>A ENST00000512091.1 + 23 4150 c.3403G>A c.(3403-3405)Ggg>Agg p.G1135R LPHN3_ENST00000509896.1_Missense_Mutation_p.G1203R|LPHN3_ENST00000514996.1_Missense_Mutation_p.G1126R|LPHN3_ENST00000508946.1_Missense_Mutation_p.G1135R|LPHN3_ENST00000511324.1_Missense_Mutation_p.G1194R|LPHN3_ENST00000514157.1_Missense_Mutation_p.G1126R|LPHN3_ENST00000507164.1_Missense_Mutation_p.G1194R|LPHN3_ENST00000545650.1_Missense_Mutation_p.G1135R|LPHN3_ENST00000508693.1_Missense_Mutation_p.G1203R|LPHN3_ENST00000514591.1_Missense_Mutation_p.G1135R|LPHN3_ENST00000506746.1_Missense_Mutation_p.G1194R|LPHN3_ENST00000507625.1_Missense_Mutation_p.G1194R|LPHN3_ENST00000506720.1_Missense_Mutation_p.G1203R|LPHN3_ENST00000506700.1_Missense_Mutation_p.G1126R|LPHN3_ENST00000504896.1_Missense_Mutation_p.G1135R Q9HAR2 LPHN3_HUMAN latrophilin 3 1113 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 AAAAGAGTATGGGAAATGCCT 0.398000 16 25 0 0 1 0 0 ZNF529 57711 broad.mit.edu 37 19 37038046 37038046 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:37038046G>C ENST00000334116.7 - 6 1709 c.1099C>G c.(1099-1101)Cat>Gat p.H367D ZNF529_ENST00000591340.1_Missense_Mutation_p.H472D NM_001145650.1 NP_001139122.1 Q6P280 ZN529_HUMAN zinc finger protein 529 439 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) TCACCACTATGAATTCTTTGA 0.383000 6 13 0 0 1 0 0 B4GALNT1 2583 broad.mit.edu 37 12 58020606 58020606 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:58020606C>G ENST00000341156.4 - 11 2107 c.1523G>C c.(1522-1524)gGa>gCa p.G508A B4GALNT1_ENST00000418555.2_Missense_Mutation_p.G453A NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 508 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GTCCAGTGATCCTGGGTAACG 0.582000 29 70 0 0 1 0 0 SLC15A1 6564 broad.mit.edu 37 13 99337071 99337071 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:99337071G>T ENST00000376503.5 - 23 2089 c.2034C>A c.(2032-2034)atC>atA p.I678I NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 678 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) ATTGAGCTTCGATCTCCGCTG 0.443000 9 36 2.74318e-10 4.09895e-10 1 1 0 IL1R2 7850 broad.mit.edu 37 2 102626066 102626066 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:102626066G>C ENST00000332549.3 + 3 339 c.110G>C c.(109-111)cGg>cCg p.R37P IL1R2_ENST00000441002.1_Missense_Mutation_p.R37P|IL1R2_ENST00000393414.2_Missense_Mutation_p.R37P NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II 37 Ig-like C2-type 1. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity p.R37L(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) CATTACAAGCGGGAGTTCAGG 0.592000 35 158 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90501456 90501456 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:90501456G>T ENST00000325643.5 + 4 2120 c.2054G>T c.(2053-2055)gGg>gTg p.G685V NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 GACTTTGCAGGGAAGGGCAGG 0.617000 8 50 0.000274275 0.000315295 1 1 0 SORCS2 57537 broad.mit.edu 37 4 7668859 7668859 + Silent SNP A A C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:7668859A>C ENST00000507866.2 + 8 1189 c.1080A>C c.(1078-1080)tcA>tcC p.S360S SORCS2_ENST00000329016.9_Silent_p.S188S NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 360 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 AGGCAACATCAGCAAACCAGA 0.438000 34 73 0 0 1 0 0 WDR53 348793 broad.mit.edu 37 3 196281205 196281205 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:196281205C>A ENST00000332629.5 - 4 1521 c.954G>T c.(952-954)aaG>aaT p.K318N WDR53_ENST00000429115.1_Missense_Mutation_p.K157N|WDR53_ENST00000433160.1_Missense_Mutation_p.K159N NM_182627.1 NP_872433.1 Q7Z5U6 WDR53_HUMAN WD repeat domain 53 318 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) CAATATTTAGCTTTGGTAAAA 0.383000 12 26 0.000978159 0.0011021 1 1 0 GPR12 2835 broad.mit.edu 37 13 27333299 27333299 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:27333299C>G ENST00000405846.3 - 2 887 c.666G>C c.(664-666)aaG>aaC p.K222N GPR12_ENST00000381436.2_Missense_Mutation_p.K222N NM_005288.3 NP_005279.1 P47775 GPR12_HUMAN G protein-coupled receptor 12 222 integral to plasma membrane endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) TCATCACAATCTTACAGATCT 0.567000 11 43 0 0 1 0 0 C7orf34 135927 broad.mit.edu 37 7 142636751 142636751 + Silent SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:142636751A>G ENST00000409607.3 + 1 149 c.108A>G c.(106-108)gcA>gcG p.A36A NM_178829.4 NP_849151.2 Q96L11 CG034_HUMAN chromosome 7 open reading frame 34 11 extracellular region large_intestine(1)|lung(4) 5 Melanoma(164;0.059) TCTGCAGGGCAGTGTTCCTGG 0.652000 17 31 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9073156 9073156 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:9073156G>T ENST00000397910.4 - 3 14493 c.14290C>A c.(14290-14292)Ccg>Acg p.P4764T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4766 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 TGCCATTGCGGTGTGAAAGCA 0.488000 12 42 0.00136819 0.00152451 1 1 0 H2AFY2 55506 broad.mit.edu 37 10 71868845 71868845 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:71868845C>T ENST00000373255.4 + 8 1099 c.835C>T c.(835-837)Cct>Tct p.P279S AIFM2_ENST00000373248.1_Intron NM_018649.2 NP_061119.1 Q9P0M6 H2AW_HUMAN H2A histone family, member Y2 279 Macro. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1) 15 CTGTCACATCCCTCAGTGGGG 0.532000 12 56 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189862992 189862992 + Splice_Site SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:189862992G>T ENST00000304636.3 + 28 2094 c.1923_splice c.e28-1 p.G642_splice COL3A1_ENST00000317840.5_Splice_Site_p.G642_splice NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 642 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding p.G642C(1) NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TTCTTTCTAGGGCTTGCCTGG 0.353000 6 16 0.0215528 0.0224952 1 1 0 RUSC2 9853 broad.mit.edu 37 9 35547720 35547720 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:35547720C>A ENST00000455600.1 + 2 1771 c.1202C>A c.(1201-1203)aCc>aAc p.T401N NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 401 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) AAACTTGTCACCTGTGACCTA 0.557000 16 102 1.3612e-06 1.7562e-06 1 1 0 KRT18P55 284085 broad.mit.edu 37 17 26604114 26604114 + RNA SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:26604114T>A ENST00000577198.1 - 0 847 NR_028334.1 AGGCTTTGCATGGTTTCCTTC 0.592000 57 38 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34123632 34123632 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:34123632C>T ENST00000373381.4 - 27 4537 c.4361G>A c.(4360-4362)gGc>gAc p.G1454D CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.G327D NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1414 CUB 9. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CAGCGCGTAGCCAGGGTCACA 0.587000 19 99 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98369518 98369518 + Silent SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:98369518C>G ENST00000339364.5 - 14 2240 c.2121G>C c.(2119-2121)acG>acC p.T707T PIK3AP1_ENST00000371109.3_Silent_p.T306T|PIK3AP1_ENST00000371110.2_Silent_p.T529T NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 707 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) GTCTCAGCTCCGTCCTAGGGG 0.582000 18 102 0 0 1 0 0 CLCN6 1185 broad.mit.edu 37 1 11898431 11898431 + Missense_Mutation SNP G G A rs149322151 TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:11898431G>A ENST00000346436.6 + 21 2387 c.2335G>A c.(2335-2337)Gag>Aag p.E779K CLCN6_ENST00000376487.3_Missense_Mutation_p.E757K|CLCN6_ENST00000376496.3_Missense_Mutation_p.E779K|CLCN6_ENST00000312413.6_3'UTR NM_001286.3 NP_001277.1 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 779 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) CGAGATGGCCGAGGACTACCC 0.657000 OREG0013104 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 73 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55583042 55583042 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:55583042C>T ENST00000361849.3 - 34 4844 c.4450G>A c.(4450-4452)Gtg>Atg p.V1484M PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.V1479M|PCDH15_ENST00000395433.1_Missense_Mutation_p.V1459M|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.V1413M|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.V1442M|PCDH15_ENST00000320301.6_Missense_Mutation_p.V1482M|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Intron NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1482 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) AAGGGCATCACAACTTGTTGA 0.378000 HNSCC(58;0.16) 5 26 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178700001 178700001 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:178700001G>T ENST00000251582.7 - 3 700 c.599C>A c.(598-600)gCg>gAg p.A200E ADAMTS2_ENST00000274609.5_Missense_Mutation_p.A200E NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 200 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) AGCCTCCTGCGCCGCCAGCCC 0.627000 16 60 9.16793e-09 1.28125e-08 1 1 0 SCNN1G 6340 broad.mit.edu 37 16 23197658 23197658 + Silent SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:23197658G>C ENST00000300061.2 + 2 209 c.66G>C c.(64-66)gcG>gcC p.A22A NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 22 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) GCCCTCAGGCGCCGACCATTA 0.612000 15 50 0 0 1 0 0 KLF17 128209 broad.mit.edu 37 1 44595233 44595233 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:44595233G>T ENST00000372299.3 + 2 348 c.290G>T c.(289-291)gGt>gTt p.G97V KLF17_ENST00000476802.1_Splice_Site NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 97 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) CCTGAGCGTGGTATGAGCTAC 0.572000 45 68 5.34276e-22 9.84935e-22 1 1 0 ETNK1 55500 broad.mit.edu 37 12 22778506 22778506 + Nonsense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:22778506G>T ENST00000266517.4 + 1 498 c.409G>T c.(409-411)Gag>Tag p.E137* ETNK1_ENST00000335148.3_Nonsense_Mutation_p.E137* NM_018638.4 NP_061108.2 Q9HBU6 EKI1_HUMAN ethanolamine kinase 1 137 phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|ethanolamine kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GGACCCCCAGGAGGTGACCCT 0.657000 5 3 0.014758 0.0155645 1 1 0 C5orf64 285668 broad.mit.edu 37 5 60999814 60999814 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:60999814G>A ENST00000505642.1 + 4 422 c.347G>A c.(346-348)tGt>tAt p.C116Y C5orf64_ENST00000313303.7_Missense_Mutation_p.C116Y|C5orf64_ENST00000510414.1_3'UTR NM_173667.2 NP_775938.1 Q2M2E5 CE064_HUMAN chromosome 5 open reading frame 64 116 extracellular region breast(1) 1 TTAGCTGACTGTGTTCTAAAA 0.443000 4 17 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193153456 193153456 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:193153456C>A ENST00000342695.4 - 24 3072 c.2750G>T c.(2749-2751)gGt>gTt p.G917V ATP13A4_ENST00000392443.3_Missense_Mutation_p.G898V NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 917 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CAGCAGAACACCAACATACTG 0.428000 5 47 1 1 1 1 0 ATP11C 286410 broad.mit.edu 37 X 138832249 138832249 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:138832249C>A ENST00000370557.1 - 24 3781 c.2754G>T c.(2752-2754)ctG>ctT p.L918L ATP11C_ENST00000359686.2_Silent_p.L924L|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Silent_p.L924L|ATP11C_ENST00000327569.3_Silent_p.L924L|ATP11C_ENST00000361648.2_Silent_p.L924L Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 924 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) GACTATAGGCCAGGATGGGCA 0.383000 30 22 1.30897e-18 2.28315e-18 1 1 0 OR5M1 390168 broad.mit.edu 37 11 56380696 56380696 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:56380696C>G ENST00000526538.1 - 1 282 c.283G>C c.(283-285)Gct>Cct p.A95P NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 AAGCATCCAGCGTAGGAGATG 0.453000 15 31 0 0 1 0 0 GGTLC1 92086 broad.mit.edu 37 20 23967163 23967163 + Missense_Mutation SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr20:23967163A>G ENST00000335694.4 - 2 290 c.86T>C c.(85-87)tTc>tCc p.F29S GGTLC1_ENST00000278765.4_Missense_Mutation_p.F29S|GGTLC1_ENST00000286890.4_Missense_Mutation_p.F29S NM_178311.2 NP_842563.1 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 29 gamma-glutamyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 CGGCATGTAGAACTCGGGCTT 0.617000 22 41 0 0 1 0 0 NOV 4856 broad.mit.edu 37 8 120435355 120435355 + Missense_Mutation SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr8:120435355A>G ENST00000259526.3 + 5 1284 c.1057A>G c.(1057-1059)Acc>Gcc p.T353A RP11-775B15.2_ENST00000519786.1_RNA NM_002514.3 NP_002505.1 P48745 NOV_HUMAN nephroblastoma overexpressed 353 regulation of cell growth growth factor activity|insulin-like growth factor binding p.T353A(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3) 21 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCTGAAGACTACCAGAGGGAA 0.483000 14 130 0 0 1 0 0 BARHL1 56751 broad.mit.edu 37 9 135458480 135458480 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:135458480G>A ENST00000263610.2 + 1 909 c.296G>A c.(295-297)aGg>aAg p.R99K BARHL1_ENST00000542090.1_Missense_Mutation_p.R99K NM_020064.3 NP_064448.1 Q9BZE3 BARH1_HUMAN BarH-like homeobox 1 99 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(2)|lung(2)|skin(3) 8 OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05) TTTCTGATCAGGGACATCCTT 0.701000 32 219 0 0 1 0 0 HOMEZ 57594 broad.mit.edu 37 14 23745935 23745935 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:23745935C>A ENST00000357460.5 - 2 666 c.502G>T c.(502-504)Ggt>Tgt p.G168C HOMEZ_ENST00000561013.1_Missense_Mutation_p.G170C|HOMEZ_ENST00000431326.2_Missense_Mutation_p.G170C NM_020834.2 NP_065885.2 Q8IX15 HOMEZ_HUMAN homeobox and leucine zipper encoding 168 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|lung(7) 12 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) GTTGGAGGACCTATTCCAATA 0.532000 34 105 2.68265e-12 4.21115e-12 1 1 0 ZCCHC16 340595 broad.mit.edu 37 X 111698580 111698580 + Silent SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:111698580G>C ENST00000340433.2 + 1 854 c.624G>C c.(622-624)ctG>ctC p.L208L NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 208 nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 TTCCAGACCTGATCACTCAGT 0.478000 18 27 0 0 1 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15881953 15881953 + RNA SNP A A G rs4807986 by1000genomes TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:15881953A>G ENST00000587443.2 - 0 944 NR_033864.1 p.W142fs*32(2) CGGAAGCGCCACCCGTCATGG 0.537000 6 52 0 0 1 0 0 MAP1LC3C 440738 broad.mit.edu 37 1 242159486 242159486 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:242159486G>T ENST00000357246.3 - 4 487 c.423C>A c.(421-423)gaC>gaA p.D141E NM_001004343.2 NP_001004343.1 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 gamma 141 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(106;0.0188) TGCAGGGTCTGTCCTCAAGGC 0.557000 7 72 0.0381472 0.0394522 1 1 0 SLITRK2 84631 broad.mit.edu 37 X 144905083 144905083 + Silent SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:144905083C>G ENST00000370490.1 + 1 5395 c.1140C>G c.(1138-1140)ctC>ctG p.L380L SLITRK2_ENST00000434188.2_Silent_p.L380L|SLITRK2_ENST00000413937.2_Silent_p.L380L|SLITRK2_ENST00000447897.2_Silent_p.L380L|SLITRK2_ENST00000428560.2_Silent_p.L380L Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 380 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) CAAAGAAACTCTACCTAACAG 0.423000 22 16 0 0 1 0 0 ADAM23 8745 broad.mit.edu 37 2 207425878 207425878 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:207425878G>T ENST00000264377.3 + 12 1524 c.1196G>T c.(1195-1197)aGc>aTc p.S399I ADAM23_ENST00000374416.1_Missense_Mutation_p.S399I|ADAM23_ENST00000374415.3_Missense_Mutation_p.S399I NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 399 Peptidase M12B. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TATAAGAGAAGCAGTCTGAGT 0.408000 3 23 0.115264 0.117598 1 1 0 IRF8 3394 broad.mit.edu 37 16 85953807 85953807 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:85953807C>A ENST00000268638.5 + 8 1503 c.1081C>A c.(1081-1083)Cgc>Agc p.R361S IRF8_ENST00000562492.1_Missense_Mutation_p.R157S NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 361 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) GGCCCCCTTGCGCTCCAAACT 0.507000 18 19 6.49762e-13 1.03574e-12 1 1 0 CACNA1E 777 broad.mit.edu 37 1 181480531 181480531 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:181480531G>A ENST00000526775.1 + 3 562 c.397G>A c.(397-399)Ggg>Agg p.G133R CACNA1E_ENST00000367573.2_Missense_Mutation_p.G133R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G133R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G133R|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G84R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G84R NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 133 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TTATTTCATTGGGATCTTTTG 0.488000 15 230 0 0 1 0 0 S100A7 6278 broad.mit.edu 37 1 153431413 153431413 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:153431413T>A ENST00000368723.3 - 2 187 c.77A>T c.(76-78)aAg>aTg p.K26M S100A7_ENST00000368722.1_Missense_Mutation_p.K26M NM_002963.3 NP_002954.2 P31151 S10A7_HUMAN S100 calcium binding protein A7 26 EF-hand 1. angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus calcium ion binding|RAGE receptor binding|zinc ion binding breast(1)|large_intestine(2)|lung(5)|skin(2) 10 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) CTTCTCAATCTTGTCATCACG 0.458000 30 98 0 0 1 0 0 FOXG1 2290 broad.mit.edu 37 14 29237306 29237306 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:29237306G>A ENST00000382535.3 + 2 1190 c.821G>A c.(820-822)cGg>cAg p.R274Q FOXG1_ENST00000313071.4_Missense_Mutation_p.R274Q P55316 FOXG1_HUMAN forkhead box G1 274 Missing (in Ref. 1; CAA52240 and 2; CAA55038). axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GGCAAGCTGCGGCGCCGCTCC 0.701000 17 101 0 0 1 0 0 KLHL32 114792 broad.mit.edu 37 6 97578796 97578796 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:97578796G>C ENST00000369261.4 + 9 1940 c.1577G>C c.(1576-1578)tGg>tCg p.W526S KLHL32_ENST00000536676.1_Missense_Mutation_p.W490S|KLHL32_ENST00000539200.1_Missense_Mutation_p.W457S|KLHL32_ENST00000544166.1_Missense_Mutation_p.W82S NM_052904.3 NP_443136.2 Q96NJ5 KLH32_HUMAN kelch-like family member 32 526 breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) ACTGACCAGTGGACACGTTGT 0.398000 23 45 0 0 1 0 0 LAMP1 3916 broad.mit.edu 37 13 113965058 113965058 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:113965058G>T ENST00000332556.4 + 4 632 c.438G>T c.(436-438)agG>agT p.R146S LAMP1_ENST00000397181.3_Intron NM_005561.3 NP_005552.3 P11279 LAMP1_HUMAN lysosomal-associated membrane protein 1 146 First lumenal domain. endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2) 16 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) CTGACATCAGGGCAGATATAG 0.373000 19 28 4.96729e-08 6.74451e-08 1 1 0 KIF1B 23095 broad.mit.edu 37 1 10355738 10355738 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:10355738A>T ENST00000377086.1 + 19 1893 c.1691A>T c.(1690-1692)gAg>gTg p.E564V KIF1B_ENST00000377083.1_Missense_Mutation_p.E518V|KIF1B_ENST00000263934.6_Missense_Mutation_p.E518V|KIF1B_ENST00000377081.1_Missense_Mutation_p.E564V|KIF1B_ENST00000377093.4_Missense_Mutation_p.E518V O60333 KIF1B_HUMAN kinesin family member 1B 564 FHA. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GCAGATGCTGAGCGGCGCCAG 0.493000 11 76 0 0 1 0 0 TMOD1 7111 broad.mit.edu 37 9 100308537 100308537 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:100308537G>T ENST00000395211.2 + 3 327 c.191G>T c.(190-192)aGa>aTa p.R64I TMOD1_ENST00000259365.3_Missense_Mutation_p.R64I NM_001166116.1 NP_001159588.1 P28289 TMOD1_HUMAN tropomodulin 1 64 Tropomyosin-binding (Potential). muscle filament sliding cytosol actin binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1) 11 Acute lymphoblastic leukemia(62;0.154) STAD - Stomach adenocarcinoma(157;0.105) CCCTTTAAAAGAGAGGAGCTC 0.537000 11 66 1.58986e-06 2.03673e-06 1 1 0 ZNF695 57116 broad.mit.edu 37 1 247150745 247150745 + Nonsense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:247150745C>A ENST00000339986.7 - 4 1219 c.1072G>T c.(1072-1074)Gga>Tga p.G358* ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron NM_020394.4 NP_065127.4 Q8IW36 ZN695_HUMAN zinc finger protein 695 358 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) AAGGCTTTTCCACATTCTTCA 0.388000 5 21 1.024e-07 1.38415e-07 1 1 0 NPFFR1 64106 broad.mit.edu 37 10 72025849 72025849 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:72025849C>A ENST00000277942.5 - 2 313 c.306G>T c.(304-306)gtG>gtT p.V102V NM_022146.4 NP_071429.1 Q9GZQ6 NPFF1_HUMAN neuropeptide FF receptor 1 102 integral to membrane|plasma membrane neuropeptide receptor activity endometrium(2)|lung(1) 3 TGAGGTTGTCCACAAGGGTGG 0.537000 6 45 0.217242 0.219419 1 1 0 NLGN1 22871 broad.mit.edu 37 3 173998845 173998845 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:173998845C>A ENST00000457714.1 + 7 2653 c.2224C>A c.(2224-2226)Cat>Aat p.H742N NLGN1_ENST00000545397.1_Missense_Mutation_p.H742N|NLGN1_ENST00000401917.3_Missense_Mutation_p.H782N|NLGN1_ENST00000361589.4_Missense_Mutation_p.H742N NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 759 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TGATTTGGATCATGAATGTGA 0.488000 14 35 1.3612e-06 1.7562e-06 1 1 0 CTAGE1 64693 broad.mit.edu 37 18 19995861 19995861 + Silent SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr18:19995861A>G ENST00000391403.2 - 1 2017 c.1914T>C c.(1912-1914)aaT>aaC p.N638N NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 638 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) AATTACCAAGATTATCTTTGG 0.418000 24 111 0 0 1 0 0 TFDP1 7027 broad.mit.edu 37 13 114287513 114287513 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:114287513G>C ENST00000375370.5 + 6 599 c.387G>C c.(385-387)agG>agC p.R129S TFDP1_ENST00000538138.1_Missense_Mutation_p.R34S|TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000544902.1_Missense_Mutation_p.R34S NM_007111.4 NP_009042.1 Q14186 TFDP1_HUMAN transcription factor Dp-1 129 cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) AGGTGCAGAGGAAAGGGACCA 0.507000 TSP Lung(29;0.18) 10 39 0 0 1 0 0 LTK 4058 broad.mit.edu 37 15 41800332 41800332 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr15:41800332A>T ENST00000263800.6 - 9 1280 c.1184T>A c.(1183-1185)cTc>cAc p.L395H LTK_ENST00000561619.1_Missense_Mutation_p.L77H|LTK_ENST00000453182.2_Missense_Mutation_p.L334H|LTK_ENST00000355166.5_Missense_Mutation_p.L334H NM_002344.5 NP_002335.2 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase 395 apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1) 26 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) AGCCAGCTGGAGCTCTGCCTG 0.557000 TSP Lung(18;0.14) 7 40 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21233668 21233668 + Silent SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:21233668A>T ENST00000233242.1 - 26 6199 c.6072T>A c.(6070-6072)atT>atA p.I2024I NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2024 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTGGCACTTTAATTGGGGAGT 0.423000 9 63 0 0 1 0 0 MSI2 124540 broad.mit.edu 37 17 55693446 55693446 + Splice_Site SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:55693446G>T ENST00000284073.2 + 9 861 c.e9+1 MSI2_ENST00000579180.1_Splice_Site|MSI2_ENST00000416426.2_Splice_Site|MSI2_ENST00000442934.2_Splice_Site|MSI2_ENST00000322684.3_Splice_Site|MSI2_ENST00000579505.1_Splice_Site NM_138962.2 NP_620412.1 Q96DH6 MSI2H_HUMAN musashi RNA-binding protein 2 cytoplasm nucleotide binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1) 7 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) GGGATGCTGGGTGAGTCTGGA 0.607000 T HOXA9 CML 47 65 1.15181e-12 1.82958e-12 1 1 0 CACNA2D1 781 broad.mit.edu 37 7 81746426 81746426 + Missense_Mutation SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:81746426T>C ENST00000356860.3 - 6 798 c.460A>G c.(460-462)Aat>Gat p.N154D CACNA2D1_ENST00000423588.1_Missense_Mutation_p.N154D|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.N154D NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 154 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CGTCCAAAATTAGCATCTTCA 0.358000 23 13 0 0 1 0 0 RNASE8 122665 broad.mit.edu 37 14 21526351 21526351 + Silent SNP C C T rs77979750 by1000genomes TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:21526351C>T ENST00000308227.2 + 1 371 c.300C>T c.(298-300)caC>caT p.H100H NDRG2_ENST00000403829.3_Intron NM_138331.1 NP_612204.1 Q8TDE3 RNAS8_HUMAN ribonuclease, RNase A family, 8 100 extracellular region nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08) GBM - Glioblastoma multiforme(265;0.0188) ACCAGAGCCACGGGCCCATGT 0.552000 32 85 0 0 1 0 0 INSC 387755 broad.mit.edu 37 11 15212252 15212252 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:15212252G>T ENST00000379554.3 + 6 772 c.726G>T c.(724-726)ctG>ctT p.L242L INSC_ENST00000530161.1_Silent_p.L195L|INSC_ENST00000525218.1_Silent_p.L195L|INSC_ENST00000528567.1_Silent_p.L195L|INSC_ENST00000379556.3_Silent_p.L195L|INSC_ENST00000424273.1_Silent_p.L195L|INSC_ENST00000447214.2_3'UTR NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 242 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 CTTAGGCACTGGTGAGAAAAA 0.517000 13 76 1.05317e-09 1.53327e-09 1 1 0 SEMA3D 223117 broad.mit.edu 37 7 84727258 84727258 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:84727258T>A ENST00000284136.6 - 2 218 c.175A>T c.(175-177)Att>Ttt p.I59F SEMA3D_ENST00000444867.1_Missense_Mutation_p.I59F NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 59 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 AAAAAGGGAATACAGCTATTT 0.383000 29 43 0 0 1 0 0 CMA1 1215 broad.mit.edu 37 14 24974787 24974787 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:24974787G>C ENST00000250378.3 - 5 708 c.679C>G c.(679-681)Cct>Gct p.P227A RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Missense_Mutation_p.P116A NM_001836.3 NP_001827.1 P23946 CMA1_HUMAN chymase 1, mast cell 227 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity kidney(1)|lung(8)|pancreas(1)|prostate(1) 11 GBM - Glioblastoma multiforme(265;0.0271) AAGACAGCAGGGGGCTTTGCA 0.592000 31 47 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152323838 152323838 + Missense_Mutation SNP C C T rs149503979 byFrequency TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:152323838C>T ENST00000388718.5 - 3 6496 c.6424G>A c.(6424-6426)Ggg>Agg p.G2142R FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2142 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCTGTCTCCCGTGAATGGCA 0.517000 253 237 0 0 1 0 0 TTC17 55761 broad.mit.edu 37 11 43511892 43511892 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:43511892C>T ENST00000039989.4 + 22 3148 c.3134C>T c.(3133-3135)gCg>gTg p.A1045V NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 1045 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 CTGCACTATGCGCCACACCAG 0.567000 7 48 0 0 1 0 0 DIEXF 27042 broad.mit.edu 37 1 210014313 210014313 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:210014313G>T ENST00000491415.2 + 8 1455 c.1398G>T c.(1396-1398)aaG>aaT p.K466N NM_014388.6 NP_055203.4 Q68CQ4 DIEXF_HUMAN digestive organ expansion factor homolog (zebrafish) 466 multicellular organismal development nucleus breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2) 53 GAGAGAAGAAGAGAGATTTTG 0.483000 4 53 0.00909568 0.00974 1 1 0 ARMC3 219681 broad.mit.edu 37 10 23244735 23244735 + Splice_Site SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:23244735G>T ENST00000298032.5 + 4 250 c.e4-1 ARMC3_ENST00000464017.1_Splice_Site|ARMC3_ENST00000376528.4_Splice_Site|ARMC3_ENST00000409983.3_Splice_Site|ARMC3_ENST00000409049.3_Splice_Site NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TGTGATGTCAGGTGAGGAAAA 0.388000 22 7 7.87624e-14 1.28949e-13 1 1 0 CASC1 55259 broad.mit.edu 37 12 25302609 25302609 + Nonsense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:25302609C>A ENST00000354189.5 - 7 747 c.712G>T c.(712-714)Gag>Tag p.E238* CASC1_ENST00000537577.1_Nonsense_Mutation_p.E62*|CASC1_ENST00000395987.3_Nonsense_Mutation_p.E180*|CASC1_ENST00000545133.1_Nonsense_Mutation_p.E115*|CASC1_ENST00000395990.2_Nonsense_Mutation_p.E134*|CASC1_ENST00000320267.9_Nonsense_Mutation_p.E174*|CASC1_ENST00000557684.1_5'UTR NM_001082972.1 NP_001076441.1 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 174 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) TGAAGGAGCTCCTGCAGTTGT 0.294000 8 14 0.00448238 0.00491005 1 1 0 ANKFY1 51479 broad.mit.edu 37 17 4111310 4111310 + Missense_Mutation SNP T T G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:4111310T>G ENST00000341657.4 - 6 685 c.650A>C c.(649-651)aAg>aCg p.K217T ANKFY1_ENST00000570535.1_Missense_Mutation_p.K259T|ANKFY1_ENST00000433651.1_Missense_Mutation_p.K217T|ANKFY1_ENST00000574367.1_Missense_Mutation_p.K217T NM_016376.3 NP_057460.3 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 217 endosome membrane metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GTACTCTGTCTTGGATTTGAT 0.443000 8 70 0 0 1 0 0 RANBP3L 202151 broad.mit.edu 37 5 36269490 36269490 + Splice_Site SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:36269490A>T ENST00000296604.3 - 4 754 c.e4+1 RANBP3L_ENST00000515759.1_Splice_Site|RANBP3L_ENST00000502994.1_Splice_Site NM_145000.3 NP_659437.3 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like intracellular transport endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 16 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) GGCTATACATACCTCCCTGGG 0.358000 6 59 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4920654 4920654 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:4920654G>T ENST00000433855.1 + 1 2313 c.1447G>T c.(1447-1449)Ggg>Tgg p.G483W KCNA6_ENST00000280684.3_Missense_Mutation_p.G483W NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 483 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CGTCACTTGTGGGCAGCCTGC 0.607000 HNSCC(72;0.22) 18 46 1.33834e-09 1.92373e-09 1 1 0 GPR179 440435 broad.mit.edu 37 17 36484465 36484465 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:36484465G>A ENST00000342292.4 - 11 5007 c.4987C>T c.(4987-4989)Cca>Tca p.P1663S NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1663 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TGAGGACGTGGTTGTGGGGAG 0.562000 60 57 0 0 1 0 0 ZNF577 84765 broad.mit.edu 37 19 52376808 52376808 + Silent SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:52376808G>C ENST00000301399.5 - 7 800 c.435C>G c.(433-435)ctC>ctG p.L145L ZNF577_ENST00000420592.1_Intron|ZNF577_ENST00000451628.2_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron NM_032679.2 NP_116068.2 Q9BSK1 ZN577_HUMAN zinc finger protein 577 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GTAGGTCATTGAGCTGTGATT 0.443000 13 68 0 0 1 0 0 PSMB11 122706 broad.mit.edu 37 14 23512119 23512119 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:23512119C>A ENST00000408907.2 + 1 744 c.685C>A c.(685-687)Cgg>Agg p.R229R NM_001099780.1 NP_001093250.1 A5LHX3 PSB11_HUMAN proteasome (prosome, macropain) subunit, beta type, 11 229 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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|kidney(2)|lung(4) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00643) TTTCCACGTGCGGGAGAGTGG 0.627000 18 47 2.35188e-11 3.59723e-11 1 1 0 MAB21L2 10586 broad.mit.edu 37 4 151505034 151505034 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:151505034C>A ENST00000317605.4 + 1 1958 c.853C>A c.(853-855)Cac>Aac p.H285N LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron NM_006439.4 NP_006430.1 Q9Y586 MB212_HUMAN mab-21-like 2 (C. elegans) 285 nervous system development nucleus breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 21 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) GTGCGAGAAACACCCACGAGA 0.637000 19 82 6.49762e-13 1.03574e-12 1 1 0 OR5A1 219982 broad.mit.edu 37 11 59211378 59211378 + Nonsense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:59211378C>A ENST00000302030.2 + 1 762 c.737C>A c.(736-738)tCg>tAg p.S246* NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 ACGTGTGCCTCGCATCTGATG 0.542000 49 109 4.10826e-27 7.94497e-27 1 1 0 RCBTB2 1102 broad.mit.edu 37 13 49089463 49089463 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:49089463C>A ENST00000344532.3 - 6 650 c.227G>T c.(226-228)gGc>gTc p.G76V RCBTB2_ENST00000481144.1_5'UTR|RCBTB2_ENST00000544492.1_5'UTR|RCBTB2_ENST00000430805.2_Missense_Mutation_p.G81V|RCBTB2_ENST00000544904.1_Missense_Mutation_p.G52V NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 76 Ran guanyl-nucleotide exchange factor activity breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) CCCCAAACAGCCACAGCAGTT 0.423000 12 80 0.0135373 0.0144451 1 1 0 SORCS3 22986 broad.mit.edu 37 10 106602618 106602618 + Splice_Site SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:106602618G>A ENST00000369701.3 + 2 922 c.e2+1 NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CACTATGGAGGTAAGCAGATT 0.498000 11 27 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220342800 220342800 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:220342800G>T ENST00000312358.7 + 22 5132 c.5000G>T c.(4999-5001)cGc>cTc p.R1667L SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1667 Protein kinase 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TTCGAGAGGCGCCGGGGACTG 0.612000 25 39 1.85244e-09 2.6501e-09 1 1 0 PGBD5 79605 broad.mit.edu 37 1 230472933 230472933 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:230472933G>T ENST00000321327.2 - 6 1085 c.1086C>A c.(1084-1086)aaC>aaA p.N362K PGBD5_ENST00000391860.1_Missense_Mutation_p.N217K|PGBD5_ENST00000525115.1_Missense_Mutation_p.N263K Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 263 integral to membrane p.N362N(1) biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1) 33 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) TGCCTGCCGCGTTCCGGCACA 0.572000 34 40 2.46105e-21 4.48228e-21 1 1 0 GALNT15 117248 broad.mit.edu 37 3 16217079 16217079 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:16217079G>T ENST00000339732.5 + 1 924 c.421G>T c.(421-423)Ggg>Tgg p.G141W GALNT15_ENST00000437509.1_Missense_Mutation_p.G141W|GALNT15_ENST00000470031.1_3'UTR NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 TGATGAGGACGGGGAGGTGTC 0.647000 10 30 0.00621372 0.00670933 1 1 0 PYDC2 152138 broad.mit.edu 37 3 191179105 191179105 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:191179105G>T ENST00000518817.1 + 1 154 c.154G>T c.(154-156)Ggg>Tgg p.G52W NM_001083308.1 NP_001076777.1 Q56P42 PYDC2_HUMAN pyrin domain containing 2 52 DAPIN. cytoplasm|nucleus breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 10 CAAGGCTAATGGGAAGCAACT 0.512000 12 59 1.5842e-08 2.19035e-08 1 1 0 NUP107 57122 broad.mit.edu 37 12 69103080 69103080 + Silent SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:69103080A>T ENST00000229179.4 + 9 1124 c.792A>T c.(790-792)cgA>cgT p.R264R NUP107_ENST00000539906.1_Silent_p.R235R|NUP107_ENST00000378905.2_Silent_p.R113R NM_020401.2 NP_065134.1 P57740 NU107_HUMAN nucleoporin 107kDa 264 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) CACTTGTTCGACAAAGTCAGG 0.299000 16 14 0 0 1 0 0 PRKCH 5583 broad.mit.edu 37 14 61923939 61923939 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:61923939A>T ENST00000332981.5 + 8 1391 c.1006A>T c.(1006-1008)Agc>Tgc p.S336C PRKCH_ENST00000555082.1_Missense_Mutation_p.S175C NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta 336 intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) AAAGGAGAGCAGCAAAGAAGG 0.468000 19 40 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746342 77746342 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:77746342G>A ENST00000409088.3 - 3 1067 c.653C>T c.(652-654)tCc>tTc p.S218F LRRTM4_ENST00000409911.1_Missense_Mutation_p.S219F|LRRTM4_ENST00000409093.1_Missense_Mutation_p.S218F|LRRTM4_ENST00000409282.1_Missense_Mutation_p.S219F|LRRTM4_ENST00000409884.1_Missense_Mutation_p.S218F NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 218 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) GTTGATCTTGGAAAACTGGTT 0.443000 4 23 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80729848 80729848 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:80729848C>A ENST00000458043.2 + 38 4507 c.4501C>A c.(4501-4503)Cct>Act p.P1501T OTOGL_ENST00000547103.1_Missense_Mutation_p.P1489T NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CGTGGAAATGCCTGACTGTGG 0.433000 5 9 5.9392e-07 7.76204e-07 1 1 0 PDGFC 56034 broad.mit.edu 37 4 157693841 157693841 + Missense_Mutation SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:157693841T>C ENST00000502773.1 - 4 1190 c.700A>G c.(700-702)Aga>Gga p.R234G PDGFC_ENST00000422544.2_Missense_Mutation_p.R234G|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000541126.1_Missense_Mutation_p.R71G|PDGFC_ENST00000542208.1_Missense_Mutation_p.R79G NM_016205.2 NP_057289.1 Q9NRA1 PDGFC_HUMAN platelet derived growth factor C 234 Cleavage (Potential). central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) AGCTTACCTCTGGATTTTCTT 0.383000 3 19 0 0 1 0 0 ZFPL1 7542 broad.mit.edu 37 11 64853941 64853941 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:64853941C>T ENST00000294258.3 + 4 421 c.269C>T c.(268-270)aCg>aTg p.T90M NM_006782.3 NP_006773.2 O95159 ZFPL1_HUMAN zinc finger protein-like 1 90 regulation of transcription, DNA-dependent|vesicle-mediated transport Golgi apparatus|integral to membrane|nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 CCCCGAAACACGGCACCTGCC 0.612000 26 206 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24831611 24831611 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:24831611G>T ENST00000395799.3 + 22 5361 c.5232G>T c.(5230-5232)ttG>ttT p.L1744F TNRC6A_ENST00000315183.7_Missense_Mutation_p.L1695F|TNRC6A_ENST00000432286.2_Missense_Mutation_p.L222F NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1744 Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) AGCCACCCTTGTCTACGTGGG 0.542000 27 53 6.32553e-13 1.01186e-12 1 1 0 SERGEF 26297 broad.mit.edu 37 11 18028240 18028240 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:18028240C>G ENST00000265965.5 - 3 401 c.250G>C c.(250-252)Ggt>Cgt p.G84R RP1-59M18.2_ENST00000525523.1_RNA|SERGEF_ENST00000528200.1_Missense_Mutation_p.G84R|SERGEF_ENST00000532212.1_5'UTR|SERGEF_ENST00000532265.1_5'UTR NM_012139.2 NP_036271.1 Q9UGK8 SRGEF_HUMAN secretion regulating guanine nucleotide exchange factor 84 negative regulation of protein secretion|signal transduction cytoplasm|nucleus protein binding|Ran guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5) 12 TCTGTGTGACCAAGCCCCAGT 0.483000 25 49 0 0 1 0 0 NRD1 4898 broad.mit.edu 37 1 52344173 52344173 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:52344173A>T ENST00000354831.7 - 1 304 c.115T>A c.(115-117)Tct>Act p.S39T NRD1_ENST00000544028.1_Intron|NRD1_ENST00000352171.7_Missense_Mutation_p.S39T NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 39 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 GCAGCAGCAGAGTCTTCGCAC 0.622000 5 28 0 0 1 0 0 ASB5 140458 broad.mit.edu 37 4 177142661 177142661 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:177142661C>A ENST00000296525.3 - 4 588 c.475G>T c.(475-477)Ggt>Tgt p.G159C ASB5_ENST00000512254.1_Missense_Mutation_p.G106C NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 159 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) GCTTTGGCACCATACTCCAGA 0.493000 13 82 9.05144e-12 1.3962e-11 1 1 0 ANAPC7 51434 broad.mit.edu 37 12 110819591 110819591 + Missense_Mutation SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:110819591T>C ENST00000455511.3 - 8 1200 c.1200A>G c.(1198-1200)atA>atG p.I400M ANAPC7_ENST00000450008.2_Missense_Mutation_p.I400M NM_016238.2 NP_057322.2 Q9UJX3 APC7_HUMAN anaphase promoting complex subunit 7 400 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1) 19 GTGCGAGCCGTATGGCCTCCC 0.483000 5 21 0 0 1 0 0 ACAP2 23527 broad.mit.edu 37 3 195027255 195027255 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:195027255C>A ENST00000326793.6 - 13 1331 c.1101G>T c.(1099-1101)aaG>aaT p.K367N NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 367 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 ATTCATCACCCTTCTCTCTAT 0.398000 11 64 1.08611e-07 1.44868e-07 1 1 0 GBA3 57733 broad.mit.edu 37 4 22729468 22729468 + RNA SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:22729468C>A ENST00000511446.1 + 0 61 GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA NM_001277225.1 NP_001264154.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TTGTCAAAAACAGTCGGTACA 0.403000 24 41 4.26978e-12 6.61998e-12 1 1 0 MAOB 4129 broad.mit.edu 37 X 43626802 43626802 + Silent SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:43626802G>A ENST00000378069.4 - 15 1621 c.1474C>T c.(1474-1476)Ctg>Ttg p.L492L MAOB_ENST00000538942.1_3'UTR|MAOB_ENST00000536181.1_Silent_p.L476L NM_000898.4 NP_000889.3 P27338 AOFB_HUMAN monoamine oxidase B 492 xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5) 21 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) AGCCTGAGCAGGCCTGGCACG 0.522000 4 7 0 0 1 0 0 NOX4 50507 broad.mit.edu 37 11 89106598 89106598 + Splice_Site SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:89106598A>T ENST00000535633.1 - 12 1374 c.e12+1 NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) TGTTCTACATACCTGTCCAGT 0.289000 7 47 0 0 1 0 0 MAP7D2 256714 broad.mit.edu 37 X 20081688 20081688 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:20081688C>A ENST00000379651.3 - 3 234 c.216G>T c.(214-216)cgG>cgT p.R72R MAP7D2_ENST00000443379.3_Silent_p.R72R|MAP7D2_ENST00000379643.5_Silent_p.R72R|MAP7D2_ENST00000452324.3_Silent_p.R28R NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 72 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 TCTGTTGCTCCCGAGCAGCTG 0.522000 9 31 3.09899e-07 4.10933e-07 1 1 0 OR2K2 26248 broad.mit.edu 37 9 114090329 114090329 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:114090329G>T ENST00000374428.1 - 1 471 c.472C>A c.(472-474)Ccg>Acg p.P158T OR2K2_ENST00000302681.1_Missense_Mutation_p.P129T Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, member 2 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 TATCTCAGCGGGTTACAAATG 0.552000 12 52 3.07112e-06 3.89037e-06 1 1 0 PML 5371 broad.mit.edu 37 15 74315342 74315342 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr15:74315342C>T ENST00000565898.1 + 3 860 c.776C>T c.(775-777)gCg>gTg p.A259V PML_ENST00000569965.1_Missense_Mutation_p.A259V|PML_ENST00000569477.1_Missense_Mutation_p.A259V|PML_ENST00000569161.1_3'UTR|PML_ENST00000567543.1_Missense_Mutation_p.A259V|PML_ENST00000436891.3_Missense_Mutation_p.A259V|PML_ENST00000435786.2_Missense_Mutation_p.A259V|PML_ENST00000395132.2_Missense_Mutation_p.A259V|PML_ENST00000395135.3_Missense_Mutation_p.A259V|PML_ENST00000359928.4_Missense_Mutation_p.A259V|PML_ENST00000354026.6_Missense_Mutation_p.A259V|PML_ENST00000564428.1_Missense_Mutation_p.A259V|PML_ENST00000268058.3_Missense_Mutation_p.A259V|PML_ENST00000268059.6_Missense_Mutation_p.A259V|PML_ENST00000563500.1_Missense_Mutation_p.A259V P29590 PML_HUMAN promyelocytic leukemia 259 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 GCGGTTCACGCGCAGATGCAC 0.692000 T """RARA, PAX5""" """APL, ALL""" 7 32 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7713002 7713002 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:7713002C>T ENST00000338316.4 + 11 1701 c.1612C>T c.(1612-1614)Cgc>Tgc p.R538C ADCY2_ENST00000537121.1_Missense_Mutation_p.R358C|RP11-711G10.1_ENST00000514105.2_RNA NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 538 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TTTTCAAAATCGCACCTTAAG 0.299000 4 18 0 0 1 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319480 21319480 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:21319480G>C ENST00000583088.1 + 3 1721 c.826G>C c.(826-828)Gag>Cag p.E276Q KCNJ12_ENST00000331718.5_Missense_Mutation_p.E276Q NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) TGAGATTGACGAGGCCAGCCC 0.597000 Prostate(3;0.18) 26 56 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9400470 9400470 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr20:9400470G>T ENST00000378501.2 + 22 2047 c.2032G>T c.(2032-2034)Gat>Tat p.D678Y PLCB4_ENST00000378493.1_Missense_Mutation_p.D678Y|PLCB4_ENST00000334005.3_Missense_Mutation_p.D678Y|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.D690Y|PLCB4_ENST00000278655.4_Missense_Mutation_p.D678Y|PLCB4_ENST00000414679.2_Missense_Mutation_p.D690Y NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 678 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TCTCAAACCAGATTTCATGAG 0.443000 37 49 3.3946e-10 5.04738e-10 1 1 0 TMEM138 51524 broad.mit.edu 37 11 61133546 61133546 + Missense_Mutation SNP T T G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:61133546T>G ENST00000542946.1 + 3 357 c.158T>G c.(157-159)aTc>aGc p.I53S TMEM138_ENST00000540194.1_3'UTR|TMEM138_ENST00000278826.6_Missense_Mutation_p.I53S|TMEM138_ENST00000381787.2_De_novo_Start_InFrame Q9NPI0 TM138_HUMAN transmembrane protein 138 53 integral to membrane central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 CTCTTCAACATCATCATCATT 0.453000 11 79 0 0 1 0 0 KRT82 3888 broad.mit.edu 37 12 52797534 52797534 + Nonsense_Mutation SNP C C A rs144698413 TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:52797534C>A ENST00000257974.2 - 2 648 c.571G>T c.(571-573)Gag>Tag p.E191* NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 191 Coil 1B.|Rod. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) AGCTCTGACTCTAGCCTCACG 0.607000 20 58 1.33834e-09 1.92373e-09 1 1 0 OR1S2 219958 broad.mit.edu 37 11 57971422 57971422 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:57971422A>T ENST00000302592.6 - 1 231 c.232T>A c.(232-234)Tac>Aac p.Y78N NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y78N(1) endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) AAGGATAGGTAGGCAAGGAAG 0.453000 17 71 0 0 1 0 0 PODNL1 79883 broad.mit.edu 37 19 14043740 14043740 + Silent SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:14043740G>A ENST00000538517.2 - 6 1288 c.1044C>T c.(1042-1044)aaC>aaT p.N348N PODNL1_ENST00000254320.3_Silent_p.N357N|PODNL1_ENST00000339560.5_Silent_p.N439N|PODNL1_ENST00000538371.2_Silent_p.N437N NM_001146255.1 NP_001139727.1 Q6PEZ8 PONL1_HUMAN podocan-like 1 439 Leu-rich. proteinaceous extracellular matrix central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(19;5.26e-23) TCCGCAGCTGGTTGCGTTGCA 0.711000 9 5 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29255868 29255868 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:29255868C>T ENST00000379558.4 + 15 2432 c.2081C>T c.(2080-2082)tCt>tTt p.S694F FAM179A_ENST00000403861.2_Missense_Mutation_p.S639F|FAM179A_ENST00000465300.1_3'UTR NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 694 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CTGAAGCAATCTCTCCCATCT 0.488000 7 30 0 0 1 0 0 CACNG7 59284 broad.mit.edu 37 19 54445350 54445350 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:54445350C>T ENST00000391767.1 + 6 843 c.631C>T c.(631-633)Cgt>Tgt p.R211C CACNG7_ENST00000222212.2_Missense_Mutation_p.R211C P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 211 GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) GGAGATGTACCGTCCACACCC 0.706000 25 42 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50873084 50873084 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr10:50873084C>A ENST00000395562.2 + 16 2462 c.1993C>A c.(1993-1995)Caa>Aaa p.Q665K CHAT_ENST00000351556.3_Missense_Mutation_p.Q629K|CHAT_ENST00000337653.2_Missense_Mutation_p.Q747K|CHAT_ENST00000395559.2_Missense_Mutation_p.Q629K|CHAT_ENST00000339797.1_Missense_Mutation_p.Q629K|CHAT_ENST00000455728.2_Intron NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 747 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CCAGGGACACCAACCTTGACT 0.572000 8 54 0.0477658 0.0492313 1 1 0 PROSER1 80209 broad.mit.edu 37 13 39596463 39596463 + Splice_Site SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:39596463C>A ENST00000352251.3 - 9 1563 c.730_splice c.e9+1 p.E244_splice PROSER1_ENST00000350125.3_Splice_Site_p.E222_splice|PROSER1_ENST00000484434.2_Intron NM_025138.3 NP_079414.3 Q86XN7 CM023_HUMAN proline and serine rich 1 244 Pro-rich. AACATTTTACCTGTTCCTACA 0.388000 5 36 1.23904e-05 1.52484e-05 1 1 0 RHOH 399 broad.mit.edu 37 4 40245054 40245054 + Silent SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:40245054G>C ENST00000381799.4 + 3 772 c.48G>C c.(46-48)ggG>ggC p.G16G RHOH_ENST00000505618.1_Silent_p.G16G NM_001278363.1|NM_001278365.1|NM_004310.3 NP_001265292.1|NP_001265294.1|NP_004301.1 Q15669 RHOH_HUMAN ras homolog family member H 16 negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding kidney(1)|large_intestine(3)|lung(7)|ovary(1) 12 CTGCTGTGGGGAAAACCTCTC 0.572000 7 55 0 0 1 0 0 KRTAP21-2 337978 broad.mit.edu 37 21 32119422 32119422 + Nonsense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr21:32119422G>T ENST00000333892.2 - 1 129 c.99C>A c.(97-99)taC>taA p.Y33* NM_181617.1 NP_853648.1 Q3LI59 KR212_HUMAN keratin associated protein 21-2 33 intermediate filament lung(4)|skin(2)|upper_aerodigestive_tract(1) 7 agccagagccgtatccacagc 0.537000 21 64 2.39187e-15 4.00881e-15 1 1 0 EPHA5 2044 broad.mit.edu 37 4 66356285 66356285 + Silent SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:66356285C>T ENST00000273854.3 - 5 1812 c.1212G>A c.(1210-1212)gtG>gtA p.V404V EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Silent_p.V404V|EPHA5_ENST00000354839.4_Silent_p.V404V NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 404 Fibronectin type-III 1. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 ACTCCTCACACACACCTGCAT 0.498000 TSP Lung(17;0.13) 13 25 0 0 1 0 0 GBP6 163351 broad.mit.edu 37 1 89847279 89847279 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:89847279G>A ENST00000370456.4 + 7 991 c.898G>A c.(898-900)Gta>Ata p.V300I GBP6_ENST00000535065.1_Missense_Mutation_p.V170I NM_198460.2 NP_940862.2 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 300 GTP binding|GTPase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) AGTGACTTATGTAGAGGCCAT 0.502000 26 63 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47854978 47854978 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:47854978C>T ENST00000289672.2 - 47 7093 c.7043G>A c.(7042-7044)gGc>gAc p.G2348D C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2348 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 CGGGTACAGGCCATCCAGAAG 0.527000 48 45 0 0 1 0 0 BPIFC 254240 broad.mit.edu 37 22 32831693 32831693 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr22:32831693C>G ENST00000397452.1 - 9 1032 c.922G>C c.(922-924)Gag>Cag p.E308Q BPIFC_ENST00000534972.1_Missense_Mutation_p.E32Q|BPIFC_ENST00000432451.2_Missense_Mutation_p.E122Q|BPIFC_ENST00000300399.3_Missense_Mutation_p.E308Q Q8NFQ6 BPIL2_HUMAN BPI fold containing family C 308 extracellular region lipopolysaccharide binding|phospholipid binding CTCCTCACCTCTTCGGTGGAG 0.423000 3 19 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84727238 84727238 + Silent SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:84727238T>C ENST00000284136.6 - 2 238 c.195A>G c.(193-195)tcA>tcG p.S65S SEMA3D_ENST00000444867.1_Silent_p.S65S NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 65 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 CCAGTCCTTCTGATGAACCCA 0.388000 34 49 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19747068 19747068 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:19747068G>C ENST00000507958.1 - 6 1496 c.506C>G c.(505-507)cCt>cGt p.P169R CDH18_ENST00000382275.1_Missense_Mutation_p.P169R|CDH18_ENST00000274170.4_Missense_Mutation_p.P169R|CDH18_ENST00000502796.1_Missense_Mutation_p.P169R|CDH18_ENST00000506372.1_Missense_Mutation_p.P169R|CDH18_ENST00000511273.1_Missense_Mutation_p.P169R Q13634 CAD18_HUMAN cadherin 18, type 2 169 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P169H(2) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TGACATTTCAGGCACAGTAAC 0.328000 10 80 0 0 1 0 0 B2M 567 broad.mit.edu 37 15 45003745 45003745 + Translation_Start_Site SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr15:45003745A>G ENST00000558401.1 + 1 71 c.1A>G c.(1-3)Atg>Gtg p.M1V B2M_ENST00000544417.1_Start_Codon_SNP_p.M1V|B2M_ENST00000559916.1_Start_Codon_SNP_p.M1V NM_004048.2 NP_004039.1 P61769 B2MG_HUMAN beta-2-microglobulin 1 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding p.M1L(3)|p.M1V(2)|p.?(1) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) TCGGGCCGAGATGTCTCGCTC 0.612000 9 29 0 0 1 0 0 KAT2B 8850 broad.mit.edu 37 3 20142851 20142851 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:20142851G>T ENST00000263754.4 + 5 1197 c.742G>T c.(742-744)Gca>Tca p.A248S NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 248 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 AGTTGAGTTGGCAAAAATGTT 0.403000 19 23 6.94344e-10 1.01905e-09 1 1 0 SOX14 8403 broad.mit.edu 37 3 137483966 137483966 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:137483966G>T ENST00000306087.1 + 1 388 c.340G>T c.(340-342)Gcc>Tcc p.A114S NM_004189.3 NP_004180.1 O95416 SOX14_HUMAN SRY (sex determining region Y)-box 14 114 negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent nucleus sequence-specific DNA binding large_intestine(2)|lung(12) 14 GCCCGTGGGGGCCTCCGACGG 0.697000 28 47 2.24059e-21 4.08897e-21 1 1 0 GUSBP1 728411 broad.mit.edu 37 5 21459785 21459785 + RNA SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:21459785A>G ENST00000607545.1 + 0 29 NR_027026.1 TTCTTGCTCCAGTGACAGGCT 0.657000 OREG0016459 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 90 0 0 1 0 0 SIAH2 6478 broad.mit.edu 37 3 150460469 150460469 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:150460469C>A ENST00000312960.3 - 2 961 c.434G>T c.(433-435)tGt>tTt p.C145F NM_005067.5 NP_005058.3 O43255 SIAH2_HUMAN siah E3 ubiquitin protein ligase 2 145 SBD. apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process cytosol|nucleus transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1) 16 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GGTCAGGGAACAGCCCGTGGT 0.488000 3 25 0.115264 0.117598 1 1 0 KIAA0947 23379 broad.mit.edu 37 5 5461235 5461235 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:5461235A>T ENST00000296564.7 + 13 2010 c.1788A>T c.(1786-1788)aaA>aaT p.K596N NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 596 K -> E (in dbSNP:rs10475299). breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 AAAAGGAAAAAGAAGATACTC 0.398000 28 112 0 0 1 0 0 PKNOX1 5316 broad.mit.edu 37 21 44427664 44427664 + Nonsense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr21:44427664G>T ENST00000291547.5 + 3 326 c.115G>T c.(115-117)Gga>Tga p.G39* PKNOX1_ENST00000432907.2_5'UTR NM_004571.3 NP_004562.2 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 39 sequence-specific DNA binding cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1) 22 CGATGCAGAAGGAGTGAGCCC 0.512000 22 43 1.22574e-08 1.70513e-08 1 1 0 RING1 6015 broad.mit.edu 37 6 33177712 33177712 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:33177712G>T ENST00000374656.4 + 4 468 c.260G>T c.(259-261)tGc>tTc p.C87F RING1_ENST00000478431.1_3'UTR NM_002931.3 NP_002922.2 Q06587 RING1_HUMAN ring finger protein 1 87 Necessary for transcriptional repression (By similarity). histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear speck|PcG protein complex protein binding|zinc ion binding endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4) 17 TGTCCTACCTGCCGAAAGAAG 0.562000 17 15 4.7546e-09 6.70673e-09 1 1 0 ESR1 2099 broad.mit.edu 37 6 152332851 152332851 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:152332851T>A ENST00000440973.1 + 7 1527 c.1157T>A c.(1156-1158)aTc>aAc p.I386N ESR1_ENST00000544394.1_Missense_Mutation_p.I213N|ESR1_ENST00000443427.1_Missense_Mutation_p.I386N|ESR1_ENST00000206249.3_Missense_Mutation_p.I386N|ESR1_ENST00000338799.5_Missense_Mutation_p.I386N|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000456483.2_Missense_Mutation_p.I274N NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 386 Interaction with AKAP13.|Steroid-binding. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) TGGCTAGAGATCCTGATGATT 0.493000 35 27 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35993824 35993824 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:35993824G>C ENST00000297866.5 + 15 2573 c.2507G>C c.(2506-2508)gGa>gCa p.G836A NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 836 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 GTACCCAGTGGACACATCCTA 0.388000 36 22 0 0 1 0 0 RNF217-AS1 7955 broad.mit.edu 37 6 125233551 125233551 + RNA SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:125233551C>G ENST00000439075.1 - 0 1194 NR_026876.1 TTTCTTAATCCTGTTTTTCTA 0.378000 17 20 0 0 1 0 0 NUB1 51667 broad.mit.edu 37 7 151042434 151042434 + Splice_Site SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:151042434G>T ENST00000568733.1 + 2 137 c.70_splice c.e2-1 p.G24_splice NUB1_ENST00000413040.2_Splice_Site_p.G24_splice|NUB1_ENST00000355851.4_5'UTR|NUB1_ENST00000566856.1_5'UTR Q9Y5A7 NUB1_HUMAN negative regulator of ubiquitin-like proteins 1 0 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process nucleus protein binding endometrium(1)|large_intestine(7)|lung(3) 11 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) TTGCTTTCAGGGATGGCACAA 0.333000 4 4 0.150653 0.153187 1 1 0 GPR112 139378 broad.mit.edu 37 X 135405348 135405348 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:135405348G>C ENST00000394143.1 + 5 773 c.482G>C c.(481-483)gGg>gCg p.G161A GPR112_ENST00000370652.1_Missense_Mutation_p.G161A|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000287534.4_Missense_Mutation_p.G98A NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 161 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTGTTCCTAGGGCACTTTCTC 0.463000 12 46 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92086880 92086880 + Silent SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:92086880G>A ENST00000298047.6 + 1 1619 c.1602G>A c.(1600-1602)ctG>ctA p.L534L FAT3_ENST00000409404.2_Silent_p.L534L|FAT3_ENST00000541502.1_Silent_p.L534L|FAT3_ENST00000525166.1_Silent_p.L384L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 534 Cadherin 5. 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) CTGAAGAACTGGATTTTGAAT 0.398000 TCGA Ovarian(4;0.039) 22 38 0 0 1 0 0 ANKFY1 51479 broad.mit.edu 37 17 4111298 4111298 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:4111298G>C ENST00000341657.4 - 6 697 c.662C>G c.(661-663)cCg>cGg p.P221R ANKFY1_ENST00000570535.1_Missense_Mutation_p.P263R|ANKFY1_ENST00000433651.1_Missense_Mutation_p.P221R|ANKFY1_ENST00000574367.1_Missense_Mutation_p.P221R NM_016376.3 NP_057460.3 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 221 endosome membrane metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 TTTATGTAGCGGGTACTCTGT 0.443000 6 71 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685509 125685509 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:125685509G>T ENST00000371126.1 - 1 1325 c.1083C>A c.(1081-1083)caC>caA p.H361Q NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 361 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CAGTGATGATGTGGCGGTAGA 0.617000 38 28 3.21399e-22 5.94917e-22 1 1 0 SLIT3 6586 broad.mit.edu 37 5 168114058 168114058 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:168114058G>T ENST00000519560.1 - 30 3659 c.3240C>A c.(3238-3240)gcC>gcA p.A1080A SLIT3_ENST00000404867.3_Silent_p.A1080A|SLIT3_ENST00000332966.8_Silent_p.A1087A NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1080 EGF-like 5. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGCACTTGTGGGCCACACAGT 0.607000 15 26 3.27435e-08 4.46592e-08 1 1 0 RARRES3 5920 broad.mit.edu 37 11 63312207 63312207 + Missense_Mutation SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:63312207A>G ENST00000439013.2 + 3 286 c.233A>G c.(232-234)aAc>aGc p.N78S RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000255688.3_Missense_Mutation_p.N78S|RARRES3_ENST00000354445.2_Missense_Mutation_p.N78S Q9UL19 TIG3_HUMAN retinoic acid receptor responder (tazarotene induced) 3 78 lipid catabolic process|negative regulation of cell proliferation hydrolase activity kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 6 CGGGTCAACAACAGCTTGGAC 0.547000 20 89 0 0 1 0 0 VASH1 22846 broad.mit.edu 37 14 77242349 77242349 + Silent SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:77242349C>T ENST00000167106.4 + 5 1278 c.645C>T c.(643-645)taC>taT p.Y215Y RP11-488C13.6_ENST00000556368.1_RNA|VASH1_ENST00000556038.1_3'UTR NM_014909.4 NP_055724.1 Q7L8A9 VASH1_HUMAN vasohibin 1 215 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3) 10 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) CGGGCCGCTACGGTGCGCTGG 0.657000 9 18 0 0 1 0 0 ATP1B4 23439 broad.mit.edu 37 X 119512554 119512554 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:119512554C>A ENST00000218008.3 + 7 895 c.838C>A c.(838-840)Cga>Aga p.R280R ATP1B4_ENST00000539306.1_Silent_p.R237R|ATP1B4_ENST00000361319.3_Silent_p.R276R NM_001142447.2 NP_001135919.1 Q9UN42 AT1B4_HUMAN ATPase, Na+/K+ transporting, beta 4 polypeptide 280 ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 33 AAATGACATCCGATCCATCAG 0.483000 48 31 2.47907e-22 4.61707e-22 1 1 0 ST14 6768 broad.mit.edu 37 11 130064047 130064047 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:130064047G>T ENST00000278742.5 + 8 1297 c.879G>T c.(877-879)ttG>ttT p.L293F NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 293 CUB 1. proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) CCCACAGGTTGTGTGGCACCT 0.602000 26 147 1.5548e-18 2.70672e-18 1 1 0 CELA3B 23436 broad.mit.edu 37 1 22313088 22313088 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:22313088C>A ENST00000337107.6 + 7 726 c.707C>A c.(706-708)aCc>aAc p.T236N CELA3B_ENST00000473526.1_3'UTR NM_007352.2 NP_031378.1 P08861 CEL3B_HUMAN chymotrypsin-like elastase family, member 3B 236 Peptidase S1. cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 CATGGCGTGACCAGCTTTGTT 0.602000 13 44 4.3838e-07 5.73753e-07 1 1 0 HMCN1 83872 broad.mit.edu 37 1 186010216 186010216 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:186010216G>T ENST00000271588.4 + 40 6481 c.6252G>T c.(6250-6252)gtG>gtT p.V2084V HMCN1_ENST00000367492.2_Silent_p.V2084V NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2084 Ig-like C2-type 18. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ACACCTGCGTGGCAGTGAATG 0.443000 8 90 0.000157383 0.000183952 1 1 0 DSCR9 257203 broad.mit.edu 37 21 38593745 38593745 + RNA SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr21:38593745A>G ENST00000454482.2 + 0 1352 AP001432.14_ENST00000440629.1_lincRNA NR_026719.2 GAACACCAGCATCTGCTGCCG 0.542000 28 56 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51902200 51902200 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:51902200C>A ENST00000268919.4 + 1 1962 c.1806C>A c.(1804-1806)ccC>ccA p.P602P NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 602 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AAACATTACCCACTCTGTTAG 0.418000 34 53 4.3181e-19 7.60489e-19 1 1 0 ZNF236 7776 broad.mit.edu 37 18 74631780 74631780 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr18:74631780G>T ENST00000253159.8 + 20 3515 c.3317G>T c.(3316-3318)cGg>cTg p.R1106L ZNF236_ENST00000320610.9_Missense_Mutation_p.R1108L NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 1106 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) AATGCATCACGGAAGTCTCGT 0.488000 16 45 6.72482e-11 1.01151e-10 1 1 0 HEATR5A 25938 broad.mit.edu 37 14 31795411 31795411 + Silent SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr14:31795411G>A ENST00000543095.2 - 23 3689 c.3505C>T c.(3505-3507)Ctg>Ttg p.L1169L HEATR5A_ENST00000439348.1_Silent_p.L1163L|HEATR5A_ENST00000389961.3_Silent_p.L1163L|HEATR5A_ENST00000439727.1_Silent_p.L876L NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1163 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) TTTAACCACAGGGAGAGTTTT 0.323000 8 17 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84442290 84442290 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr15:84442290C>G ENST00000286744.5 + 4 429 c.205C>G c.(205-207)Cgt>Ggt p.R69G ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R69G NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 69 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) AAGAAACACTCGTTCAGATGA 0.448000 7 19 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10130142 10130142 + Missense_Mutation SNP C C T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:10130142C>T ENST00000287647.3 + 35 3569 c.3476C>T c.(3475-3477)gCc>gTc p.A1159V FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000419585.1_Missense_Mutation_p.A1159V|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.A1159V|FANCD2_ENST00000383806.1_Missense_Mutation_p.A1159V NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 1159 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) GCTTCCCTTGCCAGACAATTC 0.428000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 14 24 0 0 1 0 0 DROSHA 29102 broad.mit.edu 37 5 31464400 31464400 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:31464400C>A ENST00000511367.2 - 19 2761 c.2517G>T c.(2515-2517)acG>acT p.T839T DROSHA_ENST00000513349.1_Silent_p.T802T|DROSHA_ENST00000344624.3_Silent_p.T839T|DROSHA_ENST00000442743.1_Silent_p.T802T NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 839 Necessary for interaction with DGCR8 and pri-miRNA processing activity. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 TTAGCTCCACCGTTACTTCTC 0.423000 4 47 0.014758 0.0155645 1 1 0 WFIKKN2 124857 broad.mit.edu 37 17 48917614 48917614 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:48917614C>A ENST00000311378.4 + 2 1493 c.965C>A c.(964-966)gCt>gAt p.A322D RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.A229D NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 322 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) AATGGCACGGCTTTCCCGGCG 0.662000 44 77 1.22674e-20 2.22087e-20 1 1 0 TTC25 83538 broad.mit.edu 37 17 40117046 40117046 + RNA SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:40117046G>C ENST00000591658.1 + 0 1435 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 cytoplasm protein binding endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) AATAACAAGAGAGAAGGACAT 0.453000 4 2 0 0 1 0 0 VAC14 55697 broad.mit.edu 37 16 70726816 70726816 + Silent SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:70726816G>A ENST00000261776.5 - 18 2354 c.2094C>T c.(2092-2094)taC>taT p.Y698Y VAC14_ENST00000536184.2_Silent_p.Y130Y NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) 698 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) TGAGCAGGCCGTAGAGGGCCT 0.652000 7 9 0 0 1 0 0 AANAT 15 broad.mit.edu 37 17 74466034 74466034 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:74466034C>A ENST00000250615.3 + 7 1748 c.741C>A c.(739-741)cgC>cgA p.R247R AANAT_ENST00000392492.3_Silent_p.R202R NM_001166579.1 NP_001160051.1 Q16613 SNAT_HUMAN aralkylamine N-acetyltransferase 202 circadian rhythm|melatonin biosynthetic process cytosol aralkylamine N-acetyltransferase activity lung(1) 1 CCTTCCTGCGCAGGAACAGCG 0.657000 4 5 0.00024832 0.000288013 1 1 0 OR13C2 392376 broad.mit.edu 37 9 107367888 107367888 + Silent SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:107367888G>A ENST00000542196.1 - 1 63 c.21C>T c.(19-21)acC>acT p.T7T NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 CCACCAGAATGGTGTGGTTTT 0.368000 6 28 0 0 1 0 0 RDH8 50700 broad.mit.edu 37 19 10129433 10129433 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:10129433G>T ENST00000591589.1 + 3 538 c.349G>T c.(349-351)Ggg>Tgg p.G117W RDH8_ENST00000171214.1_Missense_Mutation_p.G97W Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 97 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) GGGCCTGGTGGGGCCCCTGGA 0.507000 8 148 2.17888e-05 2.64912e-05 1 1 0 THAP9 79725 broad.mit.edu 37 4 83827746 83827746 + Silent SNP A A G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:83827746A>G ENST00000302236.5 + 3 597 c.546A>G c.(544-546)gaA>gaG p.E182E NM_024672.4 NP_078948.3 Q9H5L6 THAP9_HUMAN THAP domain containing 9 182 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) TACTTTCTGAAGAAACAGAGT 0.358000 6 17 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26700113 26700113 + Missense_Mutation SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:26700113T>A ENST00000272371.2 - 21 2576 c.2450A>T c.(2449-2451)aAg>aTg p.K817M OTOF_ENST00000402415.3_Missense_Mutation_p.K127M|OTOF_ENST00000338581.6_Missense_Mutation_p.K70M|OTOF_ENST00000339598.3_Missense_Mutation_p.K70M|OTOF_ENST00000403946.3_Missense_Mutation_p.K817M NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 817 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGTGTGCCGCTTCACCTGGGC 0.662000 9 11 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17805799 17805799 + Silent SNP T T A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:17805799T>A ENST00000378814.5 - 19 2210 c.2211A>T c.(2209-2211)ggA>ggT p.G737G KIF13A_ENST00000378826.2_Silent_p.G737G|KIF13A_ENST00000378843.2_Silent_p.G737G|KIF13A_ENST00000378816.5_Silent_p.G737G|KIF13A_ENST00000259711.6_Silent_p.G737G NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 737 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) GGGTGCTCTTTCCTTTCCTCC 0.403000 3 14 0 0 1 0 0 FCN2 2220 broad.mit.edu 37 9 137778350 137778350 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:137778350G>C ENST00000350339.2 + 6 534 c.520G>C c.(520-522)Gtg>Ctg p.V174L FCN2_ENST00000291744.6_Missense_Mutation_p.V212L NM_015837.2 NP_056652.1 Q15485 FCN2_HUMAN ficolin (collagen/fibrinogen domain containing lectin) 2 212 Fibrinogen C-terminal. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) ATCATTCAAGGTGGCCGACGA 0.567000 11 102 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210557390 210557390 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:210557390G>C ENST00000360351.4 + 7 1002 c.496G>C c.(496-498)Gaa>Caa p.E166Q MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E162Q|MAP2_ENST00000199940.6_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 166 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CGATCAACAGGAATTGACTCC 0.428000 20 24 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 407753 407753 + Missense_Mutation SNP G G T rs138000940 byFrequency TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:407753G>T ENST00000256509.2 + 15 2348 c.1706G>T c.(1705-1707)aGt>aTt p.S569I CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.S553I NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 553 Ig-like C2-type 6. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TTGTCCTGGAGTAAAGATGGA 0.368000 10 33 0.000442599 0.000506866 1 1 0 TBX15 6913 broad.mit.edu 37 1 119466122 119466122 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:119466122C>A ENST00000369429.3 - 5 807 c.798G>T c.(796-798)ggG>ggT p.G266G TBX15_ENST00000207157.3_Silent_p.G160G Q96SF7 TBX15_HUMAN T-box 15 266 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) ACGTTTTCACCCCATCCCCAA 0.488000 6 31 0.0215528 0.0224952 1 1 0 TRIM43 129868 broad.mit.edu 37 2 96262052 96262052 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:96262052G>C ENST00000272395.2 + 4 746 c.610G>C c.(610-612)Gaa>Caa p.E204Q NM_001164464.1|NM_138800.1 NP_001157936.1|NP_620155.1 Q96BQ3 TRI43_HUMAN tripartite motif containing 43 204 intracellular zinc ion binding breast(1)|large_intestine(3)|lung(7)|ovary(1) 12 ACTGAACAAGGAATACCAAGA 0.388000 6 13 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7188268 7188268 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:7188268G>T ENST00000486284.1 + 2 923 c.649G>T c.(649-651)Ggc>Tgc p.G217C GRM7_ENST00000389336.4_Missense_Mutation_p.G217C|GRM7_ENST00000402647.2_Missense_Mutation_p.G217C|GRM7_ENST00000357716.4_Missense_Mutation_p.G217C|GRM7_ENST00000403881.1_Missense_Mutation_p.G217C NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 217 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) AAAGGCCCTAGGCTGGAATTA 0.522000 19 43 1.74485e-21 3.19712e-21 1 1 0 REM1 28954 broad.mit.edu 37 20 30064292 30064292 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr20:30064292G>T ENST00000201979.2 + 2 337 c.44G>T c.(43-45)cGg>cTg p.R15L DEFB124_ENST00000481595.1_Intron NM_014012.4 NP_054731.2 O75628 REM1_HUMAN RAS (RAD and GEM)-like GTP-binding 1 15 small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1) 23 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CCTCTGCACCGGCGAGCCAGC 0.617000 41 75 9.73076e-26 1.85806e-25 1 1 0 EPM2AIP1 9852 broad.mit.edu 37 3 37033950 37033950 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:37033950C>A ENST00000322716.5 - 1 845 c.619G>T c.(619-621)Gat>Tat p.D207Y NM_014805.3 NP_055620.1 Q7L775 EPMIP_HUMAN EPM2A (laforin) interacting protein 1 207 endoplasmic reticulum breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2) 27 GTCAGAAGATCTTCTTGCACC 0.517000 23 46 5.26018e-13 8.44422e-13 1 1 0 TG 7038 broad.mit.edu 37 8 133899143 133899143 + Missense_Mutation SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr8:133899143T>C ENST00000220616.4 + 9 1566 c.1526T>C c.(1525-1527)tTc>tCc p.F509S TG_ENST00000377869.1_Missense_Mutation_p.F509S NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 509 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CTTGCAAGCTTCTTGAATGGA 0.448000 18 60 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298759 125298759 + Silent SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:125298759C>G ENST00000538699.1 - 2 1229 c.1149G>C c.(1147-1149)ctG>ctC p.L383L DCAF12L2_ENST00000360028.2_Silent_p.L383L NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 383 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CCCTCTCCTCCAGGAACTTCT 0.627000 52 47 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106558357 106558357 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:106558357G>T ENST00000526355.1 - 8 2585 c.2117C>A c.(2116-2118)cCa>cAa p.P706Q GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P737Q|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P727Q NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 706 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) AGAAGGCTTTGGTGGCTTTGG 0.478000 39 64 2.47872e-24 4.67402e-24 1 1 0 TMPRSS9 360200 broad.mit.edu 37 19 2408537 2408537 + Silent SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:2408537C>A ENST00000332578.3 + 7 924 c.924C>A c.(922-924)atC>atA p.I308I NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 308 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) GCCGGCACATCCAGCCCGTGT 0.622000 33 72 8.88839e-20 1.57456e-19 1 1 0 WISP1 8840 broad.mit.edu 37 8 134239837 134239837 + Missense_Mutation SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr8:134239837T>C ENST00000250160.6 + 5 1094 c.988T>C c.(988-990)Ttc>Ctc p.F330L WISP1_ENST00000377863.2_Missense_Mutation_p.F158L|WISP1_ENST00000220856.6_Missense_Mutation_p.F243L|WISP1_ENST00000519433.1_Missense_Mutation_p.F85L|WISP1_ENST00000517423.1_3'UTR NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 330 CTCK. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) TGGGCTTGGCTTCTCCCGCCA 0.498000 14 95 0 0 1 0 0 KIF27 55582 broad.mit.edu 37 9 86498854 86498854 + Silent SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr9:86498854G>C ENST00000297814.2 - 10 2462 c.2319C>G c.(2317-2319)gtC>gtG p.V773V KIF27_ENST00000334204.2_Silent_p.V773V|KIF27_ENST00000376347.1_Silent_p.V164V|KIF27_ENST00000413982.1_Silent_p.V773V NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 773 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 CAATCAGTTCGACTTTTGCCT 0.353000 5 36 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54806714 54806714 + Missense_Mutation SNP A A T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:54806714A>T ENST00000306858.7 + 5 3061 c.2945A>T c.(2944-2946)aAc>aTc p.N982I NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 982 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) CTTAATTACAACACTGGTGTT 0.358000 17 25 0 0 1 0 0 NPR3 4883 broad.mit.edu 37 5 32712336 32712336 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:32712336C>A ENST00000265074.8 + 1 797 c.454C>A c.(454-456)Ctg>Atg p.L152M NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.L152M|NPR3_ENST00000434067.2_Intron NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 152 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) GCACTGGGACCTGCCCATGCT 0.706000 31 287 1.08312e-15 1.82262e-15 1 1 0 PTTG2 10744 broad.mit.edu 37 4 37962539 37962539 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:37962539G>C ENST00000504686.1 + 1 484 c.484G>C c.(484-486)Ggc>Cgc p.G162R TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000261439.4_Intron NM_006607.2 NP_006598.2 Q9NZH5 PTTG2_HUMAN pituitary tumor-transforming 2 162 chromosome organization|DNA metabolic process cytoplasm|nucleus SH3 domain binding breast(1)|endometrium(1)|lung(4)|skin(1) 7 GTTTCAGCTGGGCCCCCCTTC 0.532000 27 123 0 0 1 0 0 CTDSPL2 51496 broad.mit.edu 37 15 44811447 44811447 + Nonsense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr15:44811447C>G ENST00000260327.4 + 11 1756 c.1193C>G c.(1192-1194)tCa>tGa p.S398* CTDSPL2_ENST00000396780.1_Nonsense_Mutation_p.S326*|CTDSPL2_ENST00000558966.1_Nonsense_Mutation_p.S398*|CTDSPL2_ENST00000558373.1_Nonsense_Mutation_p.S326* NM_016396.2 NP_057480.2 Q05D32 CTSL2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 398 FCP1 homology. phosphoprotein phosphatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2) 13 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) AGAGATCTTTCAAAAACTATA 0.323000 4 22 0 0 1 0 0 LMOD3 56203 broad.mit.edu 37 3 69168389 69168389 + Missense_Mutation SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:69168389T>C ENST00000420581.2 - 2 1296 c.1117A>G c.(1117-1119)Atg>Gtg p.M373V LMOD3_ENST00000475434.1_Missense_Mutation_p.M373V|LMOD3_ENST00000489031.1_Missense_Mutation_p.M373V NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 373 cytoplasm|cytoskeleton tropomyosin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) TGGTAGCCCATCTTCAGGAGA 0.473000 11 60 0 0 1 0 0 ZBTB24 9841 broad.mit.edu 37 6 109787547 109787547 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:109787547C>A ENST00000230122.3 - 7 1768 c.1601G>T c.(1600-1602)aGg>aTg p.R534M NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 534 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) AAGAATATTCCTGACCTCTTC 0.438000 45 39 5.20006e-24 9.78518e-24 1 1 0 MSH4 4438 broad.mit.edu 37 1 76356495 76356495 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:76356495C>A ENST00000263187.3 + 17 2445 c.2341C>A c.(2341-2343)Cta>Ata p.L781I NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 781 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 TTGTGAATATCTACTGAGCTT 0.299000 Mismatch excision repair (MMR) 4 19 0.014758 0.0155645 1 1 0 RP1 6101 broad.mit.edu 37 8 55537655 55537655 + Missense_Mutation SNP G G A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr8:55537655G>A ENST00000220676.1 + 4 1361 c.1213G>A c.(1213-1215)Gca>Aca p.A405T NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 405 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 p.A405T(3) 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) GGGCAGTTTGGCAGAGGAGAT 0.443000 24 26 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167039982 167039982 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:167039982C>A ENST00000392766.2 - 12 1246 c.906G>T c.(904-906)tgG>tgT p.W302C ZBBX_ENST00000392764.1_Missense_Mutation_p.W273C|ZBBX_ENST00000307529.5_Missense_Mutation_p.W302C|ZBBX_ENST00000455345.2_Missense_Mutation_p.W302C|ZBBX_ENST00000392767.2_Missense_Mutation_p.W302C|ZBBX_ENST00000469220.1_Intron NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 302 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 GTGGTTCTCTCCAAATTTTCA 0.274000 3 22 0.115264 0.117598 1 1 0 PAX7 5081 broad.mit.edu 37 1 19062397 19062397 + Frame_Shift_Del DEL C C - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:19062397delC ENST00000375375.3 + 8 2025 c.1427delC c.(1426-1428)tcfs p.S476fs PAX7_ENST00000420770.2_Intron|PAX7_ENST00000400661.3_Frame_Shift_Del_p.S474fs NM_002584.2|NM_013945.2 NP_002575.1|NP_039236.1 P23759 PAX7_HUMAN paired box 7 476 anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2) 31 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) CCCTGGGCGTCCCCCGTCCCC 0.627 T FOXO1A alveolar rhabdomyosarcoma 7 64 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145109312 145109313 + RNA INS - - A rs148903206 TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:145109312_145109313insA ENST00000453618.1 + 0 512 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding aaaccaaaaacaaaAAAAAAAG 0.416 2 4 --- --- --- --- RAB13 5872 broad.mit.edu 37 1 153954632 153954632 + Frame_Shift_Del DEL G G - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:153954632delG ENST00000368575.3 - 8 670 c.555delC c.(553-555)ccfs p.P185fs RAB13_ENST00000462680.1_5'UTR NM_002870.2 NP_002861.1 P51153 RAB13_HUMAN RAB13, member RAS oncogene family 185 cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport cytoplasmic vesicle membrane|tight junction GTP binding|GTPase activity breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1) 11 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGTCAGTACTGGGAGGCTTGT 0.517 10 80 --- --- --- --- CD1A 909 broad.mit.edu 37 1 158224495 158224495 + Frame_Shift_Del DEL C C - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:158224495delC ENST00000289429.5 + 1 569 c.36delC c.(34-36)ctfs p.L12fs NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 12 antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) TAGCTGTTCTCCCAGGTGATG 0.443 20 169 --- --- --- --- NFASC 23114 broad.mit.edu 37 1 204926907 204926907 + Frame_Shift_Del DEL C C - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr1:204926907delC ENST00000367172.4 + 8 987 c.659delC c.(658-660)acfs p.T220fs NFASC_ENST00000338515.6_Frame_Shift_Del_p.T220fs|NFASC_ENST00000360049.4_Frame_Shift_Del_p.T214fs|NFASC_ENST00000367169.4_Frame_Shift_Del_p.T220fs|NFASC_ENST00000513543.1_Frame_Shift_Del_p.T214fs|NFASC_ENST00000338586.6_Frame_Shift_Del_p.T220fs|NFASC_ENST00000367170.4_Frame_Shift_Del_p.T220fs|NFASC_ENST00000339876.6_Frame_Shift_Del_p.T220fs|NFASC_ENST00000401399.1_Frame_Shift_Del_p.T220fs|NFASC_ENST00000367171.4_Frame_Shift_Del_p.T220fs|NFASC_ENST00000539706.1_Frame_Shift_Del_p.T214fs|NFASC_ENST00000403080.1_Frame_Shift_Del_p.T220fs|NFASC_ENST00000404907.1_Frame_Shift_Del_p.T214fs|NFASC_ENST00000404076.1_Frame_Shift_Del_p.T214fs O94856 NFASC_HUMAN neurofascin 220 Ig-like C2-type 2. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TTCCACTTCACCCACACCATC 0.557 37 52 --- --- --- --- MEMO1 51072 broad.mit.edu 37 2 32093499 32093500 + Frame_Shift_Ins INS - - T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:32093499_32093500insT ENST00000295065.4 - 9 1133_1134 c.824_825insA c.(823-825)ctcfs p.L275fs MEMO1_ENST00000490459.1_5'UTR|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000379383.3_Frame_Shift_Ins_p.L278fs|MEMO1_ENST00000404530.1_Frame_Shift_Ins_p.L275fs|MEMO1_ENST00000426310.2_Frame_Shift_Ins_p.L252fs NM_015955.2 NP_057039.1 Q9Y316 MEMO1_HUMAN mediator of cell motility 1 275 regulation of microtubule-based process cytosol|nucleus NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 17 Acute lymphoblastic leukemia(172;0.155) ACTGGCTCGACTGGGCATAATT 0.446 7 10 --- --- --- --- PTPN4 5775 broad.mit.edu 37 2 120718399 120718399 + Frame_Shift_Del DEL C C - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:120718399delC ENST00000263708.2 + 23 2921 c.2150delC c.(2149-2151)tcfs p.S718fs PTPN4_ENST00000544261.1_Frame_Shift_Del_p.S351fs NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 718 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) ATTCCTTCTTCCAGCATTATA 0.358 12 49 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168105187 168105187 + Frame_Shift_Del DEL C C - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:168105187delC ENST00000409195.1 + 9 7374 c.7285delC c.(7285-7287)ttfs p.L2429fs XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Del_p.L2429fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Del_p.L2207fs NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2254 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CAAACCCAAACTTCCCAAGCA 0.408 16 85 --- --- --- --- DIRC1 116093 broad.mit.edu 37 2 189599350 189599350 + Frame_Shift_Del DEL G G - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr2:189599350delG ENST00000308100.4 - 2 568 c.298delC c.(298-300)aafs p.Q100fs AC079613.1_ENST00000431708.1_RNA NM_052952.2 NP_443184.1 Q969H9 DIRC1_HUMAN disrupted in renal carcinoma 1 100 large_intestine(1)|lung(6) 7 OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102) AGGCTTAGTTGGTTTAATATT 0.368 30 59 --- --- --- --- PPP4R2 151987 broad.mit.edu 37 3 73114099 73114099 + Frame_Shift_Del DEL A A - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr3:73114099delA ENST00000356692.5 + 8 988 c.735delA c.(733-735)gtfs p.V245fs PPP4R2_ENST00000295862.9_Frame_Shift_Del_p.V189fs|PPP4R2_ENST00000394284.3_Frame_Shift_Del_p.V188fs Q9NY27 PP4R2_HUMAN protein phosphatase 4, regulatory subunit 2 245 mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing centrosome|nucleus|protein phosphatase 4 complex protein binding, bridging|protein phosphatase type 4 regulator activity breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2) 12 Prostate(10;0.0187)|Lung SC(41;0.236) Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031) GGCATGAGGTAAAAAGACTCA 0.433 17 24 --- --- --- --- JADE1 79960 broad.mit.edu 37 4 129767604 129767605 + Frame_Shift_Ins INS - - T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr4:129767604_129767605insT ENST00000226319.6 + 4 493_494 c.213_214insT c.(211-216)gttggcfs p.G72fs PHF17_ENST00000512960.1_Frame_Shift_Ins_p.G72fs|PHF17_ENST00000452328.2_Frame_Shift_Ins_p.G72fs|PHF17_ENST00000413543.2_Frame_Shift_Ins_p.G72fs|PHF17_ENST00000511647.1_Frame_Shift_Ins_p.G72fs NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 72 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 AGTACTATGTGTTGGCAGATCC 0.554 17 85 --- --- --- --- PCDHGA3 56112 broad.mit.edu 37 5 140725829 140725829 + Frame_Shift_Del DEL G G - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:140725829delG ENST00000253812.6 + 1 2229 c.2229delG c.(2227-2229)gcfs p.A743fs PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTGGGCGCGGACGGGGTTC 0.667 55 101 --- --- --- --- SLC36A2 153201 broad.mit.edu 37 5 150722455 150722456 + Frame_Shift_Ins INS - - A rs143350420 by1000genomes TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr5:150722455_150722456insA ENST00000335244.4 - 4 562_563 c.433_434insT c.(433-435)gggfs p.G145fs SLC36A2_ENST00000521967.1_Frame_Shift_Ins_p.G145fs NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 145 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTACCTTCCCCAGTGAGCGTGA 0.530 23 25 --- --- --- --- MDGA1 266727 broad.mit.edu 37 6 37664541 37664541 + Frame_Shift_Del DEL C C - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr6:37664541delC ENST00000434837.2 - 1 1225 c.47delG c.(46-48)tcfs p.C16fs MDGA1_ENST00000505425.1_Frame_Shift_Del_p.C16fs|MDGA1_ENST00000297153.7_Frame_Shift_Del_p.C16fs NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 16 brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 TTGTCCCCGGCAGTGGAAGGG 0.667 2 4 --- --- --- --- PHF14 9678 broad.mit.edu 37 7 11076118 11076118 + Frame_Shift_Del DEL G G - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr7:11076118delG ENST00000403050.3 + 9 2128 c.1676delG c.(1675-1677)tgfs p.W559fs PHF14_ENST00000445996.2_Frame_Shift_Del_p.W274fs NM_014660.3 NP_055475.2 O94880 PHF14_HUMAN PHD finger protein 14 559 zinc ion binding p.W559L(1) NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 35 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) CCCCAGGCCTGGGTTCCAAGG 0.463 8 24 --- --- --- --- VPS13B 157680 broad.mit.edu 37 8 100729491 100729493 + In_Frame_Del DEL TGT TGT - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr8:100729491_100729493delTGT ENST00000358544.2 + 37 6733_6735 c.6622_6624delTGT c.(6622-6624)del p.C2209del VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_In_Frame_Del_p.C2184del NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2209 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GATAGGACCATGTTGTGCTACTG 0.409 9 66 --- --- --- --- ASCL3 56676 broad.mit.edu 37 11 8959677 8959677 + Frame_Shift_Del DEL G G - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:8959677delG ENST00000325884.1 - 2 91 c.32delC c.(31-33)ctfs p.P11fs ASCL3_ENST00000531618.1_Frame_Shift_Del_p.P11fs NM_020646.1 NP_065697.1 Q9NQ33 ASCL3_HUMAN achaete-scute family bHLH transcription factor 3 10 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleolus DNA binding breast(1)|large_intestine(2)|lung(5)|stomach(1) 9 Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228) AAGTTTGTCAGGTAGACTAGA 0.483 53 133 --- --- --- --- OR10G8 219869 broad.mit.edu 37 11 123900922 123900922 + Frame_Shift_Del DEL T T - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr11:123900922delT ENST00000431524.1 + 1 626 c.593delT c.(592-594)atfs p.I198fs NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) GAGACTGTCATTTTTGTGACT 0.532 22 128 --- --- --- --- CPNE8 144402 broad.mit.edu 37 12 39079398 39079399 + Frame_Shift_Ins INS - - C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr12:39079398_39079399insC ENST00000331366.5 - 16 1260_1261 c.1164_1165insG c.(1162-1167)ccactgfs p.L389fs CPNE8_ENST00000538596.2_Frame_Shift_Ins_p.L58fs|CPNE8_ENST00000360449.3_Frame_Shift_Ins_p.L377fs NM_153634.2 NP_705898.1 Q86YQ8 CPNE8_HUMAN copine VIII 389 VWFA. NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 21 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) CCATCACAGTAGGGGTTTTGAG 0.381 9 38 --- --- --- --- DOCK9 23348 broad.mit.edu 37 13 99549853 99549853 + Frame_Shift_Del DEL T T - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:99549853delT ENST00000376460.1 - 15 1678 c.1598delA c.(1597-1599)agfs p.K533fs DOCK9_ENST00000442173.1_Frame_Shift_Del_p.K533fs|DOCK9_ENST00000448493.2_Frame_Shift_Del_p.K545fs|DOCK9_ENST00000339416.2_Frame_Shift_Del_p.K534fs NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 534 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AGATGCATCCTTAAACAATGT 0.358 11 68 --- --- --- --- ZIC5 85416 broad.mit.edu 37 13 100617661 100617661 + Frame_Shift_Del DEL C C - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr13:100617661delC ENST00000267294.4 - 2 2195 c.1962delG c.(1960-1962)ggfs p.G654fs NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 654 cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CTTCAGGGTTCCCGTAAATTT 0.468 32 79 --- --- --- --- EPB42 2038 broad.mit.edu 37 15 43501604 43501604 + Frame_Shift_Del DEL G G - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr15:43501604delG ENST00000300215.3 - 6 1247 c.790delC c.(790-792)agfs p.Q264fs EPB42_ENST00000540029.1_Frame_Shift_Del_p.Q156fs|EPB42_ENST00000441366.2_Frame_Shift_Del_p.Q234fs P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 234 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) TGGGTGGCCTGGGTCTGCGGG 0.632 14 75 --- --- --- --- LONP2 83752 broad.mit.edu 37 16 48329978 48329984 + Frame_Shift_Del DEL CCTTTGA CCTTTGA - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr16:48329978_48329984delCCTTTGA ENST00000285737.4 + 9 1529_1535 c.1436_1442delCCTTTGA c.(1435-1443)gcfs p.AFD479fs LONP2_ENST00000535754.1_Frame_Shift_Del_p.AFD435fs NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 479 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 CTAAATGTGGCCTTTGACCTTTCTCAA 0.406 29 74 --- --- --- --- ARHGEF15 22899 broad.mit.edu 37 17 8222445 8222445 + Frame_Shift_Del DEL C C - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:8222445delC ENST00000361926.3 + 13 2264 c.2154delC c.(2152-2154)cgfs p.R718fs ARHGEF15_ENST00000421050.1_Frame_Shift_Del_p.R718fs|ARHGEF15_ENST00000582060.1_3'UTR NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 718 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 ACCAGGGCCGCCCCACCCACC 0.592 53 66 --- --- --- --- LRRC75A-AS1 125144 broad.mit.edu 37 17 16342848 16342848 + RNA DEL C C - rs11540320 TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr17:16342848delC ENST00000475953.1 + 0 370 C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA NR_027667.1 ATAGGAAGTGCCGTCAGAAGC 0.488 18 116 --- --- --- --- COL5A3 50509 broad.mit.edu 37 19 10097033 10097033 + Frame_Shift_Del DEL C C - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:10097033delC ENST00000264828.3 - 30 2395 c.2310delG c.(2308-2310)ggfs p.G770fs NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 770 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CGCCAGCCTGCCCCGCCTGCC 0.602 16 38 --- --- --- --- ZNF607 84775 broad.mit.edu 37 19 38189064 38189064 + Frame_Shift_Del DEL A A - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr19:38189064delA ENST00000355202.4 - 5 2563 c.1968delT c.(1966-1968)agfs p.S657fs ZNF607_ENST00000395835.3_Frame_Shift_Del_p.S656fs|CTD-2528L19.4_ENST00000586606.2_Intron NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 657 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) GTTCATGGCTACTATTAAAAG 0.393 19 17 --- --- --- --- HSPA12B 116835 broad.mit.edu 37 20 3730716 3730716 + Frame_Shift_Del DEL G G - rs111540710 TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr20:3730716delG ENST00000254963.2 + 11 1288 c.1143delG c.(1141-1143)ccfs p.P381fs HSPA12B_ENST00000542646.1_Frame_Shift_Del_p.P215fs NM_001197327.1|NM_052970.4 NP_001184256.1|NP_443202.3 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 381 ATP binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 GGCAACGGCCGGCAGCCTGGG 0.652 4 7 --- --- --- --- DOPEY2 9980 broad.mit.edu 37 21 37603371 37603371 + Frame_Shift_Del DEL C C - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chr21:37603371delC ENST00000399151.3 + 14 2374 c.2289delC c.(2287-2289)ttfs p.F763fs NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 763 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane p.F763F(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GTGCCACTTTCCCTGTCTACC 0.612 12 107 --- --- --- --- DDX3X 1654 broad.mit.edu 37 X 41204747 41204750 + Frame_Shift_Del DEL TGGG TGGG - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f396958-ecda-4de4-a790-5e3ed81f5753 ddb66df4-7af1-41fc-8932-ec0268749f1a g.chrX:41204747_41204750delTGGG ENST00000399959.2 + 12 2116_2119 c.1261_1264delTGGG c.(1261-1266)tgfs p.WV421fs DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Frame_Shift_Del_p.WV405fs NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 421 Helicase C-terminal.|Necessary for interaction with XPO1. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 GAAAGTAGTTTGGGTGGAAGAATC 0.377 HNSCC(61;0.18) 11 12 --- --- --- ---