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 IGSF10 285313 broad.mit.edu 37 3 151165454 151165454 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:151165454C>T ENST00000282466.3 - 4 2314 c.2315G>A c.(2314-2316)cGa>cAa p.R772Q NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 772 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGTATTTTCTCGCTTGTCTGG 0.507000 17 30 0 0 0.004007 0 0 NLRP4 147945 broad.mit.edu 37 19 56369793 56369793 + Nonsense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:56369793G>A ENST00000301295.6 + 3 1456 c.1034G>A c.(1033-1035)tGg>tAg p.W345* NLRP4_ENST00000346986.5_Nonsense_Mutation_p.W345*|NLRP4_ENST00000587891.1_Nonsense_Mutation_p.W270* NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 345 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CTCCTCTGCTGGATCCTGTGT 0.478000 19 28 0 0 0.001216 0 0 ACSM1 116285 broad.mit.edu 37 16 20702490 20702490 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:20702490G>A ENST00000307493.4 - 1 88 c.21C>T c.(19-21)ttC>ttT p.F7F ACSM1_ENST00000520010.1_Silent_p.F7F|ACSM1_ENST00000219151.4_5'UTR NM_052956.2 NP_443188.2 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 7 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 AGAGGGTCCGGAACCTCATTA 0.532000 33 74 0 0 0.004289 0 0 UGT2B11 10720 broad.mit.edu 37 4 70074168 70074168 + Missense_Mutation SNP T T G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:70074168T>G ENST00000446444.1 - 3 911 c.903A>C c.(901-903)gaA>gaC p.E301D 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 301 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 CAACACCATTTTCTCCAGAGC 0.423000 30 72 0 0 0.003755 0 0 GPR148 344561 broad.mit.edu 37 2 131487345 131487345 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:131487345G>A ENST00000309926.4 + 1 703 c.621G>A c.(619-621)atG>atA p.M207I NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 207 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) CACCAAGCATGGGCACCCAGC 0.552000 24 58 0 0 0.003954 0 0 SCAF1 58506 broad.mit.edu 37 19 50150026 50150026 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:50150026C>T ENST00000360565.3 + 6 541 c.417C>T c.(415-417)ccC>ccT p.P139P NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 139 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) ACAGAGATCCCATCCCTCTGC 0.667000 8 6 0 0 0.006214 0 0 OR1F1 4992 broad.mit.edu 37 16 3254873 3254873 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:3254873C>T ENST00000304646.2 + 1 627 c.627C>T c.(625-627)acC>acT p.T209T AJ003147.9_ENST00000576468.1_RNA NM_012360.1 NP_036492.1 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, member 1 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 TCATGATCACCCCATTTCTTT 0.502000 25 42 0 0 0.004656 0 0 ANKZF1 55139 broad.mit.edu 37 2 220097914 220097914 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:220097914G>A ENST00000323348.5 + 6 845 c.e6+1 ANKZF1_ENST00000410034.3_Splice_Site|ANKZF1_ENST00000409849.1_Splice_Site NM_018089.2 NP_060559.2 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 1 intracellular zinc ion binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TATTTCAAGGGTGAGAGGGTG 0.547000 36 71 0 0 0.003755 0 0 BCL2A1 597 broad.mit.edu 37 15 80263402 80263402 + Silent SNP G G A rs147300718 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:80263402G>A ENST00000267953.3 - 1 386 c.60C>T c.(58-60)gtC>gtT p.V20V BCL2A1_ENST00000335661.6_Silent_p.V20V NM_004049.3 NP_004040.1 Q16548 B2LA1_HUMAN BCL2-related protein A1 20 anti-apoptosis|apoptosis cytoplasm protein binding endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 12 GTATCTGTAGGACGCACTGCA 0.463000 7 38 0 0 0.001368 0 0 TMEM168 64418 broad.mit.edu 37 7 112423923 112423923 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:112423923G>A ENST00000312814.5 - 2 1518 c.958C>T c.(958-960)Cat>Tat p.H320Y TMEM168_ENST00000454074.1_Missense_Mutation_p.H320Y NM_022484.4 NP_071929.3 Q9H0V1 TM168_HUMAN transmembrane protein 168 320 integral to membrane|transport vesicle breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1) 32 AATTTGGTATGGAATCCCCAA 0.348000 42 93 0 0 0.007835 0 0 PIBF1 10464 broad.mit.edu 37 13 73409470 73409470 + Missense_Mutation SNP G G C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:73409470G>C ENST00000326291.6 + 9 1525 c.1187G>C c.(1186-1188)cGa>cCa p.R396P NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 396 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) GATCAACTTCGAAATGCCTCT 0.303000 28 49 0 0 0.006320 0 0 TMC4 147798 broad.mit.edu 37 19 54675684 54675684 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:54675684G>A ENST00000376591.4 - 2 397 c.266C>T c.(265-267)cCt>cTt p.P89L TMC4_ENST00000476013.2_5'UTR|TMC4_ENST00000301187.4_Missense_Mutation_p.P83L NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 89 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TTCCCGGGAAGGGTGAGGGTC 0.677000 15 42 0 0 0.006122 0 0 QPRT 23475 broad.mit.edu 37 16 29708519 29708519 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:29708519G>A ENST00000395384.4 + 4 842 c.e4-1 QPRT_ENST00000562473.1_Splice_Site|QPRT_ENST00000219771.7_Splice_Site NM_014298.3 NP_055113.2 Q15274 NADC_HUMAN quinolinate phosphoribosyltransferase protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process cytosol nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 Niacin(DB00627) GTGTCCCGCAGGAGCTGCACC 0.642000 5 7 0 0 0.001168 0 0 VASP 7408 broad.mit.edu 37 19 46027396 46027396 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:46027396C>T ENST00000245932.6 + 10 1308 c.952C>T c.(952-954)Cca>Tca p.P318S NM_003370.3 NP_003361.1 P50552 VASP_HUMAN vasodilator-stimulated phosphoprotein 318 EVH2. axon guidance|cell junction assembly|T cell receptor signaling pathway actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane actin binding|profilin binding|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2) 18 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154) CACAACCTTGCCAAGGTAGGC 0.577000 OREG0025556 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 17 0 0 0.001368 0 0 RNPEPL1 57140 broad.mit.edu 37 2 241517032 241517032 + Missense_Mutation SNP C C A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:241517032C>A ENST00000270357.3 + 11 1801 c.1208C>A c.(1207-1209)aCc>aAc p.T403N RNPEPL1_ENST00000464550.1_3'UTR NM_018226.4 NP_060696.4 Q9HAU8 RNPL1_HUMAN arginyl aminopeptidase (aminopeptidase B)-like 1 403 leukotriene biosynthetic process|proteolysis aminopeptidase activity|metallopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 13 all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238) Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322) CGCATGTACACCATCCCGCTG 0.687000 7 23 1.12685e-05 1.46475e-05 0.004482 1 0 VWF 7450 broad.mit.edu 37 12 6125316 6125316 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:6125316G>A ENST00000261405.5 - 31 5648 c.5394C>T c.(5392-5394)atC>atT p.I1798I NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1798 VWFA 3; main binding site for collagens type I and III. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CCGTGACCAGGATGACCACCG 0.552000 13 15 0 0 0.001855 0 0 PTPRD 5789 broad.mit.edu 37 9 8375969 8375969 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:8375969G>A ENST00000381196.4 - 36 5171 c.4628C>T c.(4627-4629)cCt>cTt p.P1543L PTPRD_ENST00000356435.5_Missense_Mutation_p.P1543L|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1530L|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1521L|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1543L|PTPRD_ENST00000537002.1_Missense_Mutation_p.P1133L|PTPRD_ENST00000486161.1_Missense_Mutation_p.P1136L|PTPRD_ENST00000397606.3_Missense_Mutation_p.P1136L|PTPRD_ENST00000397617.3_Missense_Mutation_p.P1136L|PTPRD_ENST00000397611.3_Missense_Mutation_p.P1133L|PTPRD_ENST00000355233.5_Missense_Mutation_p.P1137L NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1543 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AGCATCGGGAGGGTTACAGGT 0.468000 TSP Lung(15;0.13) 22 18 0 0 0.002780 0 0 TNR 7143 broad.mit.edu 37 1 175375790 175375790 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:175375790G>A ENST00000367674.1 - 3 769 c.61C>T c.(61-63)Ctt>Ttt p.L21F TNR_ENST00000263525.2_Missense_Mutation_p.L21F NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 21 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) GAGCCCAGAAGGATCAGGTTG 0.552000 26 60 0 0 0.003954 0 0 GRIA3 2892 broad.mit.edu 37 X 122598946 122598946 + Silent SNP T T A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:122598946T>A ENST00000264357.5 + 13 2599 c.2307T>A c.(2305-2307)ccT>ccA p.P769P GRIA3_ENST00000371256.5_Silent_p.P769P|GRIA3_ENST00000371251.1_Silent_p.P769P|AL356213.1_ENST00000577653.1_RNA|GRIA3_ENST00000542149.1_Silent_p.P769P NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 769 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) TGGCAACCCCTAAAGGCTCAG 0.403000 31 9 0 0 0.003271 0 0 IGSF1 3547 broad.mit.edu 37 X 130415851 130415851 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:130415851G>A ENST00000370904.1 - 14 2197 c.1287C>T c.(1285-1287)acC>acT p.T429T IGSF1_ENST00000361420.3_Silent_p.T438T|IGSF1_ENST00000370903.3_Silent_p.T438T|IGSF1_ENST00000370910.1_Silent_p.T429T Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 438 Ig-like C2-type 5. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GGCACTGAAGGGTGATGGCCT 0.468000 7 3 0 0 0.001984 0 0 TMEM246 84302 broad.mit.edu 37 9 104238586 104238586 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:104238586C>T ENST00000374851.1 - 4 1936 c.789G>A c.(787-789)ctG>ctA p.L263L TMEM246_ENST00000374848.3_Silent_p.L263L|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Silent_p.L263L|RP11-490D19.6_ENST00000431507.1_RNA Q9BRR3 CI125_HUMAN transmembrane protein 246 263 integral to membrane CAACCCATTCCAGGATCCGCA 0.537000 29 37 0 0 0.007291 0 0 GAD1 2571 broad.mit.edu 37 2 171678638 171678638 + Missense_Mutation SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:171678638A>G ENST00000358196.3 + 3 674 c.124A>G c.(124-126)Aaa>Gaa p.K42E GAD1_ENST00000344257.5_Missense_Mutation_p.K42E|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.K42E NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 42 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) ATGCACCAGAAAACTGGGGCT 0.647000 6 7 0 0 0.003080 0 0 C15orf39 56905 broad.mit.edu 37 15 75500451 75500451 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:75500451C>T ENST00000360639.2 + 2 2382 c.2062C>T c.(2062-2064)Ccc>Tcc p.P688S C15orf39_ENST00000567617.1_Missense_Mutation_p.P688S|C15orf39_ENST00000394987.4_Missense_Mutation_p.P688S Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 688 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 CACATCTGGGCCCATTGGACT 0.667000 6 24 0 0 0.003080 0 0 LST3 0 broad.mit.edu 37 12 21205109 21205109 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:21205109G>A ENST00000381541.3 + 10 1476 c.1411G>A c.(1411-1413)Gaa>Aaa p.E471K SLCO1B7_ENST00000554957.1_Missense_Mutation_p.E471K|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.E424K|LST3_ENST00000540229.1_Intron AAGTCAATGGGAACCCGTCTG 0.373000 53 32 0 0 0.003610 0 0 PSKH2 85481 broad.mit.edu 37 8 87076519 87076519 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:87076519G>A ENST00000276616.2 - 2 601 c.527C>T c.(526-528)gCg>gTg p.A176V PSKH2_ENST00000517981.1_5'UTR NM_033126.1 NP_149117.1 Q96QS6 KPSH2_HUMAN protein serine kinase H2 176 Protein kinase. A -> S (in dbSNP:rs6998760). ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1) 47 STAD - Stomach adenocarcinoma(118;0.129) TATCTGCAGCGCATGCAAATA 0.443000 21 34 0 0 0.002299 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974680 21974680 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:21974680G>A ENST00000304494.5 - 1 417 c.147C>T c.(145-147)atC>atT p.I49I CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Silent_p.I49I|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Silent_p.I49I|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498124.1_Silent_p.I49I NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 49 I -> S (in a biliary tract tumor).|I -> T. 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.?(25)|p.Q50*(1)|p.0(1)|p.V28_V51del(1)|p.I49M(1)|p.I49I(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) TACCCACCTGGATCGGCCTCC 0.677000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 90 80 0 0 0.003610 0 0 ZNF600 162966 broad.mit.edu 37 19 53270581 53270581 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:53270581G>A ENST00000338230.3 - 3 695 c.428C>T c.(427-429)tCc>tTc p.S143F NM_198457.2 NP_940859.2 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) AGAATTCGGGGAATTATTCCC 0.393000 36 77 0 0 0.003271 0 0 PCDH10 57575 broad.mit.edu 37 4 134071348 134071348 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:134071348C>T ENST00000264360.4 + 1 879 c.53C>T c.(52-54)tCc>tTc p.S18F NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 18 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) GGAGTCTTTTCCCAGCTTCAC 0.498000 34 61 0 0 0.004878 0 0 CHD2 1106 broad.mit.edu 37 15 93543789 93543789 + Silent SNP G G T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:93543789G>T ENST00000394196.4 + 32 5124 c.4056G>T c.(4054-4056)gtG>gtT p.V1352V CHD2_ENST00000557381.1_Silent_p.V1352V NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1352 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AAAACAAAGTGCCCAGGCTGA 0.423000 18 28 2.48551e-13 3.25734e-13 0.004990 1 0 HDAC5 10014 broad.mit.edu 37 17 42170121 42170121 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:42170121G>A ENST00000225983.6 - 7 1021 c.698C>T c.(697-699)cCt>cTt p.P233L HDAC5_ENST00000393622.2_Missense_Mutation_p.P232L|HDAC5_ENST00000586802.1_Missense_Mutation_p.P232L|HDAC5_ENST00000336057.5_Missense_Mutation_p.P232L Q9UQL6 HDAC5_HUMAN histone deacetylase 5 232 B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) AGGCGTCCCAGGGGGGCCGCT 0.647000 12 26 0 0 0.000978 0 0 GLYATL2 219970 broad.mit.edu 37 11 58605776 58605776 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:58605776G>A ENST00000287275.1 - 3 534 c.144C>T c.(142-144)gcC>gcT p.A48A GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Silent_p.A48A NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 48 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) AATCTGGCCAGGCATCTACCA 0.458000 14 35 0 0 0.002450 0 0 MACF1 23499 broad.mit.edu 37 1 39945528 39945528 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:39945528C>T ENST00000564288.1 + 98 22794 c.22017C>T c.(22015-22017)tcC>tcT p.S7339S MACF1_ENST00000372915.3_Silent_p.S7209S|MACF1_ENST00000539005.1_Silent_p.S5121S|MACF1_ENST00000317713.7_Silent_p.S5251S|MACF1_ENST00000545844.1_Silent_p.S5251S|MACF1_ENST00000361689.2_Silent_p.S5251S|MACF1_ENST00000567887.1_Silent_p.S7376S|MACF1_ENST00000289893.4_Silent_p.S5759S Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 7209 C-terminal tail (By similarity).|Ser-rich. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGGGAGCATCCCAGGGAATGA 0.493000 13 26 0 0 0.002450 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994681 140994681 + Missense_Mutation SNP T T G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:140994681T>G ENST00000285879.4 + 4 1777 c.1491T>G c.(1489-1491)agT>agG p.S497R MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 497 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTTTCCAGAGTTCCCCTGAGT 0.498000 HNSCC(15;0.026) 58 27 0 0 0.003610 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147844632 147844632 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:147844632G>A ENST00000361727.3 + 17 3120 c.2604G>A c.(2602-2604)gaG>gaA p.E868E CNTNAP2_ENST00000538075.1_5'UTR NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 868 Laminin G-like 3. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.E868D(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GGCCAGTAGAGATTGTAGTGA 0.512000 HNSCC(39;0.1) 51 82 0 0 0.003610 0 0 HERC2 8924 broad.mit.edu 37 15 28538093 28538093 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:28538093G>A ENST00000261609.7 - 4 371 c.263C>T c.(262-264)cCt>cTt p.P88L NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 88 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) TATAGGTGCAGGAGTTTCTTC 0.383000 14 31 0 0 0.002450 0 0 ZNF14 7561 broad.mit.edu 37 19 19822381 19822381 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:19822381G>A ENST00000344099.3 - 4 1847 c.1709C>T c.(1708-1710)tCt>tTt p.S570F NM_021030.2 NP_066358.2 P17017 ZNF14_HUMAN zinc finger protein 14 570 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 Renal(1328;0.0474) TTTACTGGAAGAAATGAAGGC 0.418000 16 16 0 0 0.003163 0 0 SI 6476 broad.mit.edu 37 3 164786619 164786619 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:164786619C>T ENST00000264382.3 - 5 436 c.373_splice c.e5-1 p.G125_splice NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 125 Isomaltase. 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) GGCTTCAACTCCTTAAAGAAT 0.303000 HNSCC(35;0.089) 23 34 0 0 0.003330 0 0 AGMO 392636 broad.mit.edu 37 7 15470631 15470631 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:15470631C>T ENST00000342526.3 - 4 681 c.513_splice c.e4+1 p.W171_splice NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 171 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 ACAACTTACCCAGGAAGTATA 0.338000 10 29 0 0 0.000673 0 0 MUC16 94025 broad.mit.edu 37 19 9086891 9086891 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:9086891C>T ENST00000397910.4 - 1 5127 c.4924G>A c.(4924-4926)Gga>Aga p.G1642R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1642 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 AGGGTGACTCCACTACTACTG 0.507000 27 68 0 0 0.004656 0 0 TAF1 6872 broad.mit.edu 37 X 70683687 70683687 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:70683687G>A ENST00000449580.1 + 39 5563 c.5512G>A c.(5512-5514)Gag>Aag p.E1838K TAF1_ENST00000373790.4_Missense_Mutation_p.E1804K|TAF1_ENST00000276072.3_Missense_Mutation_p.E1825K|TAF1_ENST00000423759.1_Missense_Mutation_p.E1827K|TAF1_ENST00000461764.1_Intron P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 1804 Asp/Glu-rich (acidic tail).|Protein kinase 2. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) TGGGAGCTATGAGGAGCCTGA 0.512000 13 1 0 0 0.002450 0 0 CFH 3075 broad.mit.edu 37 1 196716296 196716296 + Nonsense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:196716296G>A ENST00000367429.4 + 22 3789 c.3549G>A c.(3547-3549)tgG>tgA p.W1183* NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 1183 Sushi 20. W -> C (in AHUS1).|W -> L (in AHUS1).|W -> R (in AHUS1). complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 CATTAAGGTGGACAGCCAAAC 0.348000 30 39 0 0 0.002836 0 0 SUPT6H 6830 broad.mit.edu 37 17 27010011 27010011 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:27010011C>T ENST00000314616.6 + 15 2062 c.1779C>T c.(1777-1779)gcC>gcT p.A593A SUPT6H_ENST00000347486.4_Silent_p.A593A NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 593 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) ACATGGTAGCCCTGCAGATTG 0.557000 7 13 0 0 0.001984 0 0 NEDD4L 23327 broad.mit.edu 37 18 56063468 56063468 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:56063468G>A ENST00000456986.1 + 31 3132 c.2532G>A c.(2530-2532)gtG>gtA p.V844V NEDD4L_ENST00000400345.3_Silent_p.V965V|NEDD4L_ENST00000586263.1_Silent_p.V937V|NEDD4L_ENST00000435432.2_Silent_p.V824V|NEDD4L_ENST00000357895.5_Silent_p.V957V|NEDD4L_ENST00000589054.1_Silent_p.V96V|NEDD4L_ENST00000356462.6_Silent_p.V901V|NEDD4L_ENST00000431212.2_Silent_p.V844V|NEDD4L_ENST00000456173.2_Silent_p.V824V|NEDD4L_ENST00000256830.9_Silent_p.V861V|NEDD4L_ENST00000382850.4_Silent_p.V945V|NEDD4L_ENST00000256832.7_Silent_p.V825V NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 965 HECT. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 TCATGGCCGTGGAAAATGCTC 0.438000 7 7 0 0 0.001984 0 0 BIRC7 79444 broad.mit.edu 37 20 61870828 61870828 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:61870828G>A ENST00000217169.3 + 6 982 c.768G>A c.(766-768)ctG>ctA p.L256L BIRC7_ENST00000342412.6_Silent_p.L238L|BIRC7_ENST00000395306.1_Silent_p.L151L NM_139317.1 NP_647478.1 Q96CA5 BIRC7_HUMAN baculoviral IAP repeat containing 7 256 activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding endometrium(1)|kidney(1)|lung(9)|ovary(1) 12 all_cancers(38;2.72e-09) AGGTGTGCCTGGACCGCGCCG 0.697000 15 34 0 0 0.004007 0 0 STAB1 23166 broad.mit.edu 37 3 52539146 52539146 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:52539146C>T ENST00000321725.6 + 13 1581 c.1505C>T c.(1504-1506)cCt>cTt p.P502L NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 502 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TCTGGGACCCCTGGGGATCCC 0.622000 19 52 0 0 0.001882 0 0 PTPRT 11122 broad.mit.edu 37 20 40713343 40713343 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:40713343C>T ENST00000373198.3 - 30 4416 c.4181G>A c.(4180-4182)gGa>gAa p.G1394E PTPRT_ENST00000373190.1_Missense_Mutation_p.G1371E|PTPRT_ENST00000373193.3_Missense_Mutation_p.G1375E|PTPRT_ENST00000373184.1_Missense_Mutation_p.G1382E|PTPRT_ENST00000373201.1_Missense_Mutation_p.G1362E|PTPRT_ENST00000373187.1_Missense_Mutation_p.G1372E|PTPRT_ENST00000356100.2_Missense_Mutation_p.G1381E NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1372 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.G1394E(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CACAGTACGTCCCTCCCTCCC 0.612000 6 10 0 0 0.003080 0 0 ETAA1 54465 broad.mit.edu 37 2 67630890 67630890 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:67630890C>T ENST00000272342.5 + 5 1206 c.1076C>T c.(1075-1077)tCc>tTc p.S359F ETAA1_ENST00000462772.1_Intron NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 359 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 TGTGTGACTTCCTGTACTAAG 0.353000 14 36 0 0 0.003163 0 0 CHN2 1124 broad.mit.edu 37 7 29519972 29519972 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:29519972G>A ENST00000222792.6 + 7 1184 c.654_splice c.e7+1 p.K218_splice CHN2_ENST00000539406.1_Splice_Site_p.K293_splice|CHN2_ENST00000495789.2_Splice_Site_p.K231_splice|CHN2_ENST00000439711.2_Splice_Site_p.K82_splice|CHN2_ENST00000409041.4_Splice_Site_p.K82_splice|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000421775.2_Splice_Site_p.K82_splice|CHN2_ENST00000424025.2_Intron|CHN2_ENST00000546235.1_Splice_Site_p.K203_splice|CHN2_ENST00000539389.1_Splice_Site_p.K74_splice NM_004067.2 NP_004058.1 P52757 CHIO_HUMAN chimerin 2 218 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2) 23 ACAACTTTAAGGTAAGCAAGC 0.453000 15 32 0 0 0.004007 0 0 TMEM57 55219 broad.mit.edu 37 1 25812149 25812149 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:25812149C>T ENST00000374343.4 + 8 1538 c.1359C>T c.(1357-1359)atC>atT p.I453I TMEM57_ENST00000399766.3_Silent_p.I226I|TMEM57_ENST00000399763.3_Silent_p.I95I NM_018202.4 NP_060672.2 Q8N5G2 MACOI_HUMAN transmembrane protein 57 453 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) AGCAGAATATCAGCCAGTTGG 0.353000 21 50 0 0 0.001882 0 0 ZNF248 57209 broad.mit.edu 37 10 38121310 38121310 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:38121310G>A ENST00000395867.3 - 6 1523 c.973C>T c.(973-975)Cgt>Tgt p.R325C ZNF248_ENST00000357328.4_Missense_Mutation_p.R325C|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 TTATATTCACGGAGAATCTTT 0.358000 20 38 0 0 0.001523 0 0 PTPN1 5770 broad.mit.edu 37 20 49195771 49195771 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:49195771C>T ENST00000371621.3 + 7 943 c.769C>T c.(769-771)Cgg>Tgg p.R257W PTPN1_ENST00000541713.1_Missense_Mutation_p.R184W NM_001278618.1|NM_002827.2 NP_001265547.1|NP_002818.1 P18031 PTN1_HUMAN protein tyrosine phosphatase, non-receptor type 1 257 Tyrosine-protein phosphatase. blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2) 16 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) GAGGAAGTTTCGGATGGGGCT 0.512000 47 79 0 0 0.003610 0 0 AOAH 313 broad.mit.edu 37 7 36726344 36726344 + Silent SNP C C T rs145856572 byFrequency TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:36726344C>T ENST00000431169.1 - 2 483 c.183G>A c.(181-183)acG>acA p.T61T AOAH_ENST00000258749.5_Silent_p.T61T|AOAH_ENST00000535891.1_Intron NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 61 Saposin B-type. inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 AGGCCTGGACCGTCGAGTTGT 0.512000 13 25 0 0 0.004007 0 0 OR5D18 219438 broad.mit.edu 37 11 55587751 55587751 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:55587751C>T ENST00000333976.4 + 1 666 c.646C>T c.(646-648)Ctc>Ttc p.L216F NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) ACTCATCGTTCTCACATCTTA 0.483000 21 42 0 0 0.003330 0 0 CD36 948 broad.mit.edu 37 7 80276161 80276161 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:80276161G>A ENST00000435819.1 + 6 789 c.105G>A c.(103-105)caG>caA p.Q35Q CD36_ENST00000441109.2_3'UTR|CD36_ENST00000433696.2_Silent_p.Q35Q|CD36_ENST00000447544.2_Silent_p.Q35Q|CD36_ENST00000544133.1_Silent_p.Q35Q|CD36_ENST00000394788.3_Silent_p.Q35Q|CD36_ENST00000432207.1_Silent_p.Q35Q|CD36_ENST00000309881.7_Silent_p.Q35Q|CD36_ENST00000534394.1_Intron|CD36_ENST00000538969.1_Silent_p.Q35Q P16671 CD36_HUMAN CD36 molecule (thrombospondin receptor) 35 cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1) 21 TGCTTATCCAGAAGACAATTA 0.418000 15 46 0 0 0.003163 0 0 LRRC27 80313 broad.mit.edu 37 10 134188633 134188633 + Missense_Mutation SNP C C G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:134188633C>G ENST00000368610.3 + 10 1294 c.1294C>G c.(1294-1296)Cga>Gga p.R432G LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368613.4_Missense_Mutation_p.R494G|LRRC27_ENST00000368612.1_Missense_Mutation_p.R432G|LRRC27_ENST00000368614.3_Missense_Mutation_p.R494G|LRRC27_ENST00000392638.2_3'UTR Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 494 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) CAAAGATCGTCGACGGGCGGC 0.468000 10 25 0 0 0.000673 0 0 C19orf24 55009 broad.mit.edu 37 19 1278890 1278890 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:1278890G>A ENST00000469144.1 + 3 390 c.81G>A c.(79-81)cgG>cgA p.R27R C19orf24_ENST00000409293.4_3'UTR Q9BVV8 CS024_HUMAN chromosome 19 open reading frame 24 63 cytoplasm|extracellular region part|integral to membrane Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014) 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) GCTGGCCCCGGGGCTGGTCTC 0.682000 18 13 0 0 0.007413 0 0 RNF213 57674 broad.mit.edu 37 17 78321753 78321753 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:78321753C>T ENST00000582970.1 + 29 9761 c.9618C>T c.(9616-9618)ttC>ttT p.F3206F RNF213_ENST00000336301.6_Silent_p.F1279F|RNF213_ENST00000508628.2_Silent_p.F3255F NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CACATCATTTCCAGAAGAGGC 0.547000 12 17 0 0 0.000978 0 0 SLC12A4 6560 broad.mit.edu 37 16 67980933 67980933 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:67980933G>A ENST00000422611.2 - 16 2193 c.2154C>T c.(2152-2154)tcC>tcT p.S718S SLC12A4_ENST00000576616.1_Silent_p.S716S|SLC12A4_ENST00000541864.2_Silent_p.S685S|SLC12A4_ENST00000316341.3_Silent_p.S716S|SLC12A4_ENST00000537830.2_Silent_p.S710S|SLC12A4_ENST00000572037.1_Silent_p.S668S|SLC12A4_ENST00000338335.3_Silent_p.S716S NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 716 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) CCTTGAGCTGGGAGGCGAAGG 0.652000 7 13 0 0 0.003080 0 0 KLHL3 26249 broad.mit.edu 37 5 137028034 137028034 + Missense_Mutation SNP G G A rs139384947 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:137028034G>A ENST00000508657.1 - 5 1084 c.370C>T c.(370-372)Cgt>Tgt p.R124C KLHL3_ENST00000309755.4_Missense_Mutation_p.R156C|KLHL3_ENST00000506491.1_Missense_Mutation_p.R74C|KLHL3_ENST00000394937.3_Missense_Mutation_p.R156C|KLHL3_ENST00000541417.1_Silent_p.S37S NM_001257194.1 NP_001244123.1 Q9UH77 KLHL3_HUMAN kelch-like family member 3 156 cytoplasm|cytoskeleton actin binding|structural molecule activity breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1) 21 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) GCAAATGCACGGATGCCCAGG 0.587000 9 5 0 0 0.004482 0 0 KCNH4 23415 broad.mit.edu 37 17 40315253 40315253 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:40315253G>A ENST00000264661.3 - 14 2909 c.2577C>T c.(2575-2577)ccC>ccT p.P859P KCNH4_ENST00000607371.1_Silent_p.P859P NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 859 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) TACCTGTAGGGGGCGCCTGGG 0.597000 25 17 0 0 0.006320 0 0 PZP 5858 broad.mit.edu 37 12 9356430 9356430 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:9356430C>T ENST00000261336.2 - 2 229 c.201G>A c.(199-201)agG>agA p.R67R NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TCCTGTTTTCCCTGCCAGACT 0.562000 25 13 0 0 0.005443 0 0 SLITRK5 26050 broad.mit.edu 37 13 88329680 88329680 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:88329680C>T ENST00000325089.6 + 2 2256 c.2037C>T c.(2035-2037)ttC>ttT p.F679F SLITRK5_ENST00000400028.3_Silent_p.F438F NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 679 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) TGTCCGTCTTCGTGGCCGCCG 0.617000 14 14 0 0 0.001855 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8665924 8665924 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:8665924C>T ENST00000270328.4 - 5 964 c.698G>A c.(697-699)cGa>cAa p.R233Q ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.R233Q Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 233 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GCTGACCGATCGCTTCAGGCC 0.647000 21 37 0 0 0.001882 0 0 EPS8L3 79574 broad.mit.edu 37 1 110299788 110299788 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:110299788C>T ENST00000369805.3 - 12 1202 c.e12-1 EPS8L3_ENST00000361965.4_Splice_Site|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Splice_Site NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) TGGCCAGGATCTAGGGGAGAG 0.592000 5 10 0 0 0.000602 0 0 MYOZ1 58529 broad.mit.edu 37 10 75391751 75391751 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:75391751C>T ENST00000359322.4 - 6 1201 c.837G>A c.(835-837)ggG>ggA p.G279G NM_021245.3 NP_067068.1 Q9NP98 MYOZ1_HUMAN myozenin 1 279 myofibril assembly nucleus|pseudopodium FATZ binding central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2) 12 Prostate(51;0.0112) CTACAGGCTCCCCAGAGCTCA 0.532000 9 23 0 0 0.006214 0 0 CLCN1 1180 broad.mit.edu 37 7 143029876 143029876 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:143029876G>A ENST00000343257.2 + 12 1398 c.1311G>A c.(1309-1311)gcG>gcA p.A437A NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 437 A -> T (in dbSNP:rs41276054). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TGAAACACGCGGGTGATCCTG 0.527000 49 65 0 0 0.003610 0 0 IGFN1 91156 broad.mit.edu 37 1 201196201 201196201 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:201196201G>A ENST00000335211.4 + 23 11108 c.10978G>A c.(10978-10980)Gtg>Atg p.V3660M IGFN1_ENST00000295591.8_3'UTR NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 AAACCCCGCGGTGTACAGCAC 0.657000 7 13 0 0 0.004482 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58189852 58189852 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:58189852G>A ENST00000318203.5 + 5 1578 c.881G>A c.(880-882)gGa>gAa p.G294E NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 294 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) AGCAATGAGGGAAATTCCACA 0.473000 17 40 0 0 0.004990 0 0 RYR2 6262 broad.mit.edu 37 1 237947468 237947468 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:237947468C>T ENST00000366574.2 + 90 12773 c.12456C>T c.(12454-12456)atC>atT p.I4152I RYR2_ENST00000542537.1_Silent_p.I4136I|RYR2_ENST00000360064.6_Silent_p.I4158I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4152 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) ATTTTGAAATCAGTGAGTCCA 0.502000 26 39 0 0 0.002445 0 0 MMP11 4320 broad.mit.edu 37 22 24123412 24123412 + Silent SNP C C A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:24123412C>A ENST00000215743.3 + 6 943 c.891C>A c.(889-891)tcC>tcA p.S297S NM_005940.3 NP_005931.2 P24347 MMP11_HUMAN matrix metallopeptidase 11 (stromelysin 3) 297 collagen catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 27 Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318) GTGAGGCCTCCTTTGACGCGG 0.637000 37 48 4.01765e-15 5.27248e-15 0.002222 1 0 R3HDML 140902 broad.mit.edu 37 20 42969931 42969931 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:42969931G>A ENST00000217043.2 + 2 529 c.357G>A c.(355-357)caG>caA p.Q119Q NM_178491.2 NP_848586.1 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like 119 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) ACGTGGGCCAGAACCTCTCCA 0.572000 13 32 0 0 0.006122 0 0 IL15RA 3601 broad.mit.edu 37 10 6005800 6005800 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:6005800G>A ENST00000525219.2 - 3 474 c.180C>T c.(178-180)gaC>gaT p.D60D IL15RA_ENST00000397255.3_Silent_p.D96D|IL15RA_ENST00000530685.1_Intron|IL15RA_ENST00000397251.3_Silent_p.D31D|IL15RA_ENST00000379977.3_Silent_p.D96D|IL15RA_ENST00000397248.2_Silent_p.D60D|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000379971.1_Intron|IL15RA_ENST00000528354.1_Intron|IL15RA_ENST00000397250.2_Intron NM_001243539.1 NP_001230468.1 Q13261 I15RA_HUMAN interleukin 15 receptor, alpha 96 Sushi. cell proliferation cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane cytokine receptor activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 CCAGGGCAGGGTCTCCTAGAG 0.537000 11 8 0 0 0.000978 0 0 ZNF221 7638 broad.mit.edu 37 19 44471349 44471349 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:44471349G>A ENST00000251269.5 + 6 2023 c.1695G>A c.(1693-1695)aaG>aaA p.K565K ZNF221_ENST00000592350.1_Silent_p.K565K|ZNF221_ENST00000587682.1_Silent_p.K565K NM_013359.2 NP_037491.2 Q9UK13 ZN221_HUMAN zinc finger protein 221 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 Prostate(69;0.0352) ATAATTGTAAGGAATGTGGAA 0.453000 19 36 0 0 0.002299 0 0 EFHB 151651 broad.mit.edu 37 3 19975238 19975238 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:19975238G>A ENST00000295824.9 - 1 434 c.273C>T c.(271-273)gtC>gtT p.V91V EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Intron NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 91 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 AGACACTGTCGACTCCTAAAC 0.443000 42 30 0 0 0.007835 0 0 TTN 7273 broad.mit.edu 37 2 179481736 179481736 + Silent SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179481736T>C ENST00000589042.1 - 256 48104 c.47880A>G c.(47878-47880)gaA>gaG p.E15960E TTN_ENST00000342175.6_Silent_p.E7087E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.E13392E|TTN_ENST00000359218.5_Silent_p.E7020E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.E6895E|TTN_ENST00000591111.1_Silent_p.E14319E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14319 Fibronectin type-III 16. 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) CCATTGTTGGTTCAACTACAA 0.393000 37 85 0 0 0.006230 0 0 FER1L6 654463 broad.mit.edu 37 8 125047600 125047600 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:125047600G>A ENST00000522917.1 + 19 2575 c.2369G>A c.(2368-2370)aGt>aAt p.S790N FER1L6_ENST00000399018.1_Missense_Mutation_p.S790N|FER1L6-AS1_ENST00000518567.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 790 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AAGCATGCCAGTGCCATTTTG 0.537000 23 72 0 0 0.004656 0 0 PPP1R10 5514 broad.mit.edu 37 6 30572209 30572209 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:30572209C>T ENST00000376511.2 - 13 1734 c.1182G>A c.(1180-1182)agG>agA p.R394R NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 394 Essential for PPP1CA inhibition (By similarity).|Necessary for interaction with PPP1CA (By similarity).|Necessary for interaction with PPP1CC. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 TTTTCCTCTTCCTGCCTTTCC 0.483000 56 22 0 0 0.003610 0 0 DAOA 267012 broad.mit.edu 37 13 106124916 106124916 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:106124916G>A ENST00000375936.3 + 3 209 c.163G>A c.(163-165)Gta>Ata p.V55I DAOA_ENST00000329625.5_5'UTR|DAOA-AS1_ENST00000448407.1_RNA NM_001161812.1|NM_172370.3 NP_001155284.1|NP_758958.3 P59103 DAOA_HUMAN D-amino acid oxidase activator 55 Golgi apparatus endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 13 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) AAGAGAGACGGTAACAAGGAA 0.388000 8 10 0 0 0.004482 0 0 SORBS2 8470 broad.mit.edu 37 4 186544450 186544450 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:186544450C>T ENST00000431808.1 - 14 2684 c.2121G>A c.(2119-2121)cgG>cgA p.R707R SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Silent_p.R807R|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000284776.7_Silent_p.R707R|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Silent_p.R611R|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 707 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TTTTTTTCCTCCGGAAAGGCA 0.468000 46 90 0 0 0.003610 0 0 S1PR3 1903 broad.mit.edu 37 9 91616748 91616748 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:91616748C>T ENST00000375846.3 + 1 5328 c.633C>T c.(631-633)atC>atT p.I211I S1PR3_ENST00000358157.2_Silent_p.I211I Q99500 S1PR3_HUMAN sphingosine-1-phosphate receptor 3 211 anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1) 34 TGGTGACCATCGTGATCCTCT 0.572000 OREG0019291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 56 0 0 0.007835 0 0 MACF1 23499 broad.mit.edu 37 1 39945529 39945529 + Nonsense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:39945529C>T ENST00000564288.1 + 98 22795 c.22018C>T c.(22018-22020)Cag>Tag p.Q7340* MACF1_ENST00000372915.3_Nonsense_Mutation_p.Q7210*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Q5122*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.Q5252*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Q5252*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Q5252*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q7377*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q5760* Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 7210 C-terminal tail (By similarity).|Ser-rich. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGGAGCATCCCAGGGAATGAC 0.493000 12 26 0 0 0.001855 0 0 ZNF80 7634 broad.mit.edu 37 3 113955368 113955368 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:113955368C>T ENST00000482457.2 - 1 1057 c.554G>A c.(553-555)gGa>gAa p.G185E NM_007136.3 NP_009067.2 P51504 ZNF80_HUMAN zinc finger protein 80 185 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) GGGCTTCTCTCCAGTGTGAAT 0.493000 29 64 0 0 0.002836 0 0 LPIN1 23175 broad.mit.edu 37 2 11923964 11923964 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:11923964G>A ENST00000256720.2 + 8 1259 c.1166G>A c.(1165-1167)aGc>aAc p.S389N LPIN1_ENST00000396098.1_Missense_Mutation_p.S431N|LPIN1_ENST00000425416.2_Missense_Mutation_p.S395N|LPIN1_ENST00000396099.1_Missense_Mutation_p.S431N|LPIN1_ENST00000396097.1_Missense_Mutation_p.S119N|LPIN1_ENST00000449576.2_Missense_Mutation_p.S474N NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 389 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) GATAAACGAAGCCGACATCTT 0.428000 67 128 0 0 0.003610 0 0 ANKMY1 51281 broad.mit.edu 37 2 241465794 241465794 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:241465794G>A ENST00000391987.1 - 6 1121 c.755C>T c.(754-756)cCc>cTc p.P252L ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.P252L|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.P341L|ANKMY1_ENST00000405523.3_Intron Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 252 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) GGGCCCACAGGGTGCAAAGCC 0.527000 11 24 0 0 0.000978 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47325393 47325393 + RNA SNP C C T rs61741514 by1000genomes TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:47325393C>T ENST00000505841.1 - 0 1136 NR_002788.2 TGTTTACTACCGGTGCGTAGA 0.473000 13 53 0 0 0.001368 0 0 CACNA1S 779 broad.mit.edu 37 1 201035439 201035439 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:201035439C>T ENST00000362061.3 - 21 2889 c.2663G>A c.(2662-2664)aGt>aAt p.S888N CACNA1S_ENST00000367338.3_Missense_Mutation_p.S888N NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 888 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GGAGATGGCACTGGACCTGGG 0.657000 11 34 0 0 0.001368 0 0 TEX14 56155 broad.mit.edu 37 17 56693650 56693650 + Missense_Mutation SNP G G C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:56693650G>C ENST00000389934.3 - 7 770 c.653C>G c.(652-654)gCg>gGg p.A218G TEX14_ENST00000240361.8_Missense_Mutation_p.A224G|TEX14_ENST00000349033.5_Missense_Mutation_p.A218G NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 224 cytoplasm ATP binding|protein kinase activity p.A218V(1)|p.A224V(1) breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CATCTGTGTCGCCCCAGTAAG 0.468000 17 69 0 0 0.007413 0 0 KANSL1L 151050 broad.mit.edu 37 2 211018925 211018925 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:211018925G>A ENST00000281772.9 - 2 645 c.382C>T c.(382-384)Cat>Tat p.H128Y KANSL1L_ENST00000457374.1_Missense_Mutation_p.H128Y|KANSL1L_ENST00000429908.2_5'UTR|KANSL1L_ENST00000452086.1_Missense_Mutation_p.H128Y|KANSL1L_ENST00000418791.1_Missense_Mutation_p.H128Y NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 128 TCTTCAGAATGAGAAAGACAG 0.363000 13 28 0 0 0.004007 0 0 SYDE2 84144 broad.mit.edu 37 1 85624759 85624759 + Missense_Mutation SNP G G C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:85624759G>C ENST00000341460.5 - 7 3308 c.3259C>G c.(3259-3261)Cgt>Ggt p.R1087G NM_032184.1 NP_115560.1 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 1087 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) CCTGCATAACGATTGCTAAGT 0.388000 50 89 0 0 0.003610 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255750 140255750 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:140255750C>T ENST00000398631.2 + 1 693 c.693C>T c.(691-693)acC>acT p.T231T PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCAAATAACCGTCCTGGATG 0.423000 19 15 0 0 0.001216 0 0 FN1 2335 broad.mit.edu 37 2 216283967 216283967 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:216283967G>A ENST00000354785.4 - 12 2186 c.1817C>T c.(1816-1818)cCa>cTa p.P606L FN1_ENST00000356005.4_Missense_Mutation_p.P606L|FN1_ENST00000357009.2_Missense_Mutation_p.P606L|FN1_ENST00000346544.3_Missense_Mutation_p.P606L|FN1_ENST00000336916.4_Missense_Mutation_p.P606L|FN1_ENST00000323926.6_Missense_Mutation_p.P606L|FN1_ENST00000426059.1_Missense_Mutation_p.P606L|FN1_ENST00000345488.5_Missense_Mutation_p.P606L|FN1_ENST00000446046.1_Missense_Mutation_p.P606L|FN1_ENST00000443816.1_Missense_Mutation_p.P606L|FN1_ENST00000432072.2_Missense_Mutation_p.P606L|FN1_ENST00000421182.1_Missense_Mutation_p.P606L|FN1_ENST00000359671.1_Missense_Mutation_p.P606L|FN1_ENST00000357867.4_Missense_Mutation_p.P606L P02751 FINC_HUMAN fibronectin 1 606 Collagen-binding. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTACTTACTTGGATAGGTCTG 0.473000 13 24 0 0 0.003163 0 0 SLC9B1 150159 broad.mit.edu 37 4 103822358 103822358 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:103822358C>T ENST00000296422.7 - 12 1605 c.1464G>A c.(1462-1464)atG>atA p.M488I SLC9B1_ENST00000512651.2_5'UTR|SLC9B1_ENST00000394789.3_Intron NM_139173.3 NP_631912.2 Q4ZJI4 NHDC1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 488 integral to membrane solute:hydrogen antiporter activity CCAGAATGCCCATAAGTAGAG 0.418000 6 152 0 0 0.003080 0 0 ILKAP 80895 broad.mit.edu 37 2 239079623 239079623 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:239079623G>A ENST00000254654.3 - 11 1174 c.999C>T c.(997-999)acC>acT p.T333T NM_030768.2 NP_110395.1 Q9H0C8 ILKAP_HUMAN integrin-linked kinase-associated serine/threonine phosphatase 333 PP2C-like. cytoplasm|protein serine/threonine phosphatase complex metal ion binding|protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163) CTTCTTCTGGGGTAAAGACCT 0.438000 44 69 0 0 0.003610 0 0 NRK 203447 broad.mit.edu 37 X 105137869 105137869 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:105137869G>A ENST00000428173.2 + 6 726 c.423G>A c.(421-423)gtG>gtA p.V141V NRK_ENST00000243300.9_Silent_p.V141V|NRK_ENST00000536164.1_Silent_p.V141V Q7Z2Y5 NRK_HUMAN Nik related kinase 141 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 CTGATGTAGTGAGAATGACCA 0.383000 HNSCC(51;0.14) 15 5 0 0 0.004990 0 0 ZBTB3 79842 broad.mit.edu 37 11 62520257 62520257 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:62520257G>A ENST00000394807.3 - 2 1155 c.1030C>T c.(1030-1032)Cca>Tca p.P344S NM_024784.3 NP_079060.1 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 344 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 gctggggctggagcctgggat 0.567000 17 28 0 0 0.006122 0 0 MAP2K3 5606 broad.mit.edu 37 17 21207854 21207854 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:21207854C>T ENST00000342679.4 + 8 934 c.685C>T c.(685-687)Ccc>Tcc p.P229S MAP2K3_ENST00000361818.5_Missense_Mutation_p.P200S|MAP2K3_ENST00000316920.6_Missense_Mutation_p.P200S NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 229 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) CGGCTGCAAGCCCTACATGGC 0.607000 4 16 0 0 0.000248 0 0 ZNF641 121274 broad.mit.edu 37 12 48738484 48738484 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:48738484G>A ENST00000544117.2 - 5 1168 c.460C>T c.(460-462)Ccc>Tcc p.P154S ZNF641_ENST00000448928.3_Missense_Mutation_p.P131S|ZNF641_ENST00000547026.1_Missense_Mutation_p.P140S|ZNF641_ENST00000301042.3_Missense_Mutation_p.P154S Q96N77 ZN641_HUMAN zinc finger protein 641 154 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 TCCAGTTTGGGAATTGGAAAT 0.403000 23 37 0 0 0.004656 0 0 LRP2 4036 broad.mit.edu 37 2 170011105 170011105 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:170011105G>A ENST00000263816.3 - 66 12445 c.12160C>T c.(12160-12162)Cct>Tct p.P4054S NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4054 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) AGCAACAAAGGAGAGCTACCT 0.368000 11 23 0 0 0.002450 0 0 VIPAS39 63894 broad.mit.edu 37 14 77893965 77893965 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:77893965C>T ENST00000553888.1 - 20 1986 c.1476G>A c.(1474-1476)aaG>aaA p.K492K VIPAS39_ENST00000343765.2_Silent_p.K492K|VIPAS39_ENST00000327028.4_Silent_p.K479K|VIPAS39_ENST00000557658.1_Silent_p.K492K|VIPAS39_ENST00000556412.1_Silent_p.K518K|VIPAS39_ENST00000448935.2_Silent_p.K443K NM_001193314.1|NM_001193317.1|NM_022067.3 NP_001180243.1|NP_001180246.1|NP_071350.2 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog CCACTTAATTCTTCCATCGAA 0.453000 13 10 0 0 0.003163 0 0 TAAR2 9287 broad.mit.edu 37 6 132938531 132938531 + Silent SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:132938531A>G ENST00000275191.2 - 1 786 c.679T>C c.(679-681)Tta>Cta p.L227L TAAR2_ENST00000367931.1_Silent_p.L272L|TAAR2_ENST00000537809.1_Silent_p.L227L NM_014626.3 NP_055441.2 Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 272 plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1) 23 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) CAACATAATAAGAAAACTCCT 0.343000 8 7 0 0 0.000978 0 0 NXF3 56000 broad.mit.edu 37 X 102338552 102338552 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:102338552G>A ENST00000395065.3 - 4 521 c.420C>T c.(418-420)ccC>ccT p.P140P NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Silent_p.P51P NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 140 RRM. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 CTGGGACGAAGGGTACACTGC 0.453000 50 22 0 0 0.003610 0 0 LEPREL1 55214 broad.mit.edu 37 3 189712072 189712072 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:189712072C>T ENST00000319332.5 - 3 831 c.633_splice c.e3-1 p.E212_splice LEPREL1_ENST00000427335.2_Splice_Site_p.E31_splice NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 212 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TTGTAACTCTCCTGTAATGAA 0.358000 4 20 0 0 0.000602 0 0 GAS6 2621 broad.mit.edu 37 13 114530088 114530088 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:114530088C>T ENST00000357389.3 - 12 1639 c.1487G>A c.(1486-1488)gGa>gAa p.G496E GAS6_ENST00000480426.1_5'UTR|GAS6_ENST00000355761.4_Missense_Mutation_p.G399E|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000418959.3_Missense_Mutation_p.G154E|GAS6_ENST00000327773.6_Missense_Mutation_p.G453E|GAS6_ENST00000450766.1_Missense_Mutation_p.G180E Q14393 GAS6_HUMAN growth arrest-specific 6 496 Laminin G-like 1. cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) GGTGTCTTCTCCGTTCAGCCA 0.577000 22 22 0 0 0.002780 0 0 SPAG17 200162 broad.mit.edu 37 1 118558675 118558675 + Silent SNP T T A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:118558675T>A ENST00000336338.5 - 29 4265 c.4200A>T c.(4198-4200)ggA>ggT p.G1400G NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1400 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) CGATCCGATTTCCTTCAGGTG 0.473000 84 36 0 0 0.003610 0 0 MIR542 664617 broad.mit.edu 37 X 133675433 133675433 + RNA SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:133675433C>T ENST00000385050.1 - 0 34 NR_030399.1 ACTGGTATCTCGTGACATGAT 0.418000 45 36 0 0 0.003610 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136321696 136321696 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:136321696C>T ENST00000371929.3 + 27 4191 c.3747C>T c.(3745-3747)acC>acT p.T1249T ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000371910.1_Silent_p.T45T|ADAMTS13_ENST00000356589.2_Silent_p.T1162T|ADAMTS13_ENST00000355699.2_Silent_p.T1193T|ADAMTS13_ENST00000485925.1_3'UTR NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 1249 CUB 1. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GCCGGCTCACCTGGAGGAAGA 0.642000 6 21 0 0 0.000673 0 0 RERGL 79785 broad.mit.edu 37 12 18234224 18234224 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:18234224C>T ENST00000229002.2 - 6 725 c.519G>A c.(517-519)ctG>ctA p.L173L RERGL_ENST00000538724.1_Silent_p.L172L NM_024730.2 NP_079006.1 Q9H628 RERGL_HUMAN RERG/RAS-like 173 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 TGAAGTTTATCAGGATGTCCT 0.398000 16 20 0 0 0.003163 0 0 MGAM 8972 broad.mit.edu 37 7 141762467 141762467 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:141762467C>T ENST00000475668.2 + 35 4276 c.4222C>T c.(4222-4224)Cca>Tca p.P1408S MGAM_ENST00000549489.2_Missense_Mutation_p.P1408S O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1408 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TCCACAGAATCCAGAGAGGAG 0.433000 10 16 0 0 0.002450 0 0 WIZ 58525 broad.mit.edu 37 19 15558987 15558987 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:15558987G>A ENST00000389282.4 - 2 345 c.132C>T c.(130-132)ttC>ttT p.F44F WIZ_ENST00000263381.6_Silent_p.F44F O95785 WIZ_HUMAN widely interspaced zinc finger motifs 44 nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 GGGTGGACCGGAAGATGCCAC 0.647000 46 41 0 0 0.003610 0 0 DUXA 503835 broad.mit.edu 37 19 57670564 57670564 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:57670564C>T ENST00000554048.2 - 3 262 c.263G>A c.(262-264)gGg>gAg p.G88E NM_001012729.1 NP_001012747.1 A6NLW8 DUXA_HUMAN double homeobox A 88 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) TTGATCTTGCCCCTGGCTCTG 0.458000 25 41 0 0 0.001786 0 0 EVI5L 115704 broad.mit.edu 37 19 7911451 7911451 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:7911451C>T ENST00000270530.4 + 2 219 c.23C>T c.(22-24)cCc>cTc p.P8L EVI5L_ENST00000538904.2_Missense_Mutation_p.P8L NM_145245.3 NP_660288.1 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like 8 intracellular protein binding|Rab GTPase activator activity breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 12 ACTCTGAGCCCCGACTCCTCA 0.657000 6 8 0 0 0.001984 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48917245 48917245 + Missense_Mutation SNP C C T rs142981915 byFrequency TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:48917245C>T ENST00000311378.4 + 2 1124 c.596C>T c.(595-597)tCc>tTc p.S199F WFIKKN2_ENST00000426127.1_Missense_Mutation_p.S106F NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 199 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) ACCACAGCCTCCCCAGAGACC 0.617000 16 15 0 0 0.006122 0 0 DNAJC13 23317 broad.mit.edu 37 3 132222072 132222072 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:132222072C>T ENST00000260818.6 + 41 4979 c.4731C>T c.(4729-4731)agC>agT p.S1577S NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1577 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TAGCAAACAGCCTTGCCAAAC 0.373000 8 27 0 0 0.004482 0 0 NCAM2 4685 broad.mit.edu 37 21 22881216 22881216 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr21:22881216G>A ENST00000400546.1 + 16 2371 c.2122G>A c.(2122-2124)Gga>Aga p.G708R NCAM2_ENST00000284894.7_Missense_Mutation_p.G566R NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 708 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) AATTGGCCTGGGAGTTGCTGC 0.378000 18 20 0 0 0.007413 0 0 UGT2B7 7364 broad.mit.edu 37 4 69972974 69972974 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:69972974C>T ENST00000305231.7 + 4 1130 c.1084C>T c.(1084-1086)Ctt>Ttt p.L362F UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_Missense_Mutation_p.L362F NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 362 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CCAGAATGACCTTCTAGGTAA 0.348000 23 47 0 0 0.003330 0 0 SCN4A 6329 broad.mit.edu 37 17 62026854 62026854 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:62026854G>A ENST00000578147.1 - 15 2964 c.2888C>T c.(2887-2889)tCc>tTc p.S963F SCN4A_ENST00000435607.1_Missense_Mutation_p.S963F P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 963 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) GCTGCAGACGGACGAGTTCCC 0.627000 9 26 0 0 0.004482 0 0 COL5A3 50509 broad.mit.edu 37 19 10084245 10084245 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:10084245C>T ENST00000264828.3 - 50 3752 c.e50+1 NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent p.?(1) 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) CAGTCACTCACCGGGATGCCT 0.622000 17 24 0 0 0.001216 0 0 FAM83G 644815 broad.mit.edu 37 17 18907103 18907103 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:18907103C>T ENST00000388995.6 - 2 475 c.252G>A c.(250-252)acG>acA p.T84T FAM83G_ENST00000585154.2_Silent_p.T84T|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Silent_p.T84T|SLC5A10_ENST00000395645.3_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 84 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 GAGAGGGGCCCGTGCCCCGAG 0.701000 6 4 0 0 0.001168 0 0 OR2L8 391190 broad.mit.edu 37 1 248113064 248113064 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:248113064G>A ENST00000357191.3 + 1 905 c.905G>A c.(904-906)cGa>cAa p.R302Q OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 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;0.0152) GCCCTGACACGAGTGAGTCAG 0.473000 14 18 0 0 0.004990 0 0 HECW2 57520 broad.mit.edu 37 2 197184260 197184260 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:197184260G>A ENST00000260983.2 - 9 1536 c.1354C>T c.(1354-1356)Ccc>Tcc p.P452S HECW2_ENST00000409111.1_Missense_Mutation_p.P96S NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 452 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GTGTCAGTGGGAAAACTACTC 0.507000 5 16 0 0 0.001984 0 0 ZIK1 284307 broad.mit.edu 37 19 58102464 58102464 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:58102464C>T ENST00000597850.1 + 4 1500 c.1285C>T c.(1285-1287)Cat>Tat p.H429Y ZIK1_ENST00000536878.2_Missense_Mutation_p.H416Y|ZIK1_ENST00000599456.1_Missense_Mutation_p.H374Y|ZIK1_ENST00000307468.4_3'UTR NM_001010879.2 NP_001010879.2 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 1 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CCGGAGAATTCATACTGGAGC 0.463000 4 18 0 0 0.000248 0 0 HKDC1 80201 broad.mit.edu 37 10 71020984 71020984 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:71020984G>A ENST00000354624.5 + 16 2439 c.2306G>A c.(2305-2307)gGg>gAg p.G769E HKDC1_ENST00000395086.2_Missense_Mutation_p.G769E NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 769 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 CTCTTCCGAGGGCAGATTTCA 0.527000 13 24 0 0 0.001855 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803578 185803578 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:185803578G>A ENST00000302277.6 + 4 4049 c.3455G>A c.(3454-3456)gGa>gAa p.G1152E NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1152 G -> R (in dbSNP:rs12105159). 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 GGACCAGTAGGACCGAGGCTT 0.507000 30 62 0 0 0.002096 0 0 TNR 7143 broad.mit.edu 37 1 175355369 175355369 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:175355369G>A ENST00000367674.1 - 8 2284 c.1576C>T c.(1576-1578)Ccc>Tcc p.P526S TNR_ENST00000263525.2_Missense_Mutation_p.P526S NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 526 Fibronectin type-III 3. 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) GCTCGAGGGGGAATCCACTCC 0.542000 5 12 0 0 0.001168 0 0 PCDH8 5100 broad.mit.edu 37 13 53422533 53422533 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:53422533G>A ENST00000377942.3 - 1 242 c.39C>T c.(37-39)ttC>ttT p.F13F PCDH8_ENST00000338862.4_Silent_p.F13F NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 13 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) GCTGCAAGGGGAAAAGGCAGG 0.607000 15 25 0 0 0.002450 0 0 SFT2D2 375035 broad.mit.edu 37 1 168211762 168211762 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:168211762C>T ENST00000271375.3 + 8 539 c.467C>T c.(466-468)gCc>gTc p.A156V SFT2D2_ENST00000367825.3_3'UTR NM_199344.2 NP_955376.1 O95562 SFT2B_HUMAN SFT2 domain containing 2 156 protein transport|vesicle-mediated transport integral to membrane lung(3)|skin(1) 4 all_hematologic(923;0.215) AAGTGTTTTGCCGTGTGTCTT 0.458000 34 58 0 0 0.004289 0 0 NR4A2 4929 broad.mit.edu 37 2 157186237 157186237 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:157186237C>T ENST00000339562.4 - 3 824 c.462G>A c.(460-462)caG>caA p.Q154Q NR4A2_ENST00000426264.1_Silent_p.Q91Q|NR4A2_ENST00000539077.1_Silent_p.Q165Q|NR4A2_ENST00000409572.1_Silent_p.Q154Q|NR4A2_ENST00000429376.1_Silent_p.Q91Q|NR4A2_ENST00000409108.2_Silent_p.Q154Q NM_006186.3 NP_006177.1 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 154 Pro-rich. cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 40 CCACGTAGTTCTGGTGGAAGT 0.632000 48 77 0 0 0.003214 0 0 RP1L1 94137 broad.mit.edu 37 8 10465899 10465899 + Silent SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:10465899T>C ENST00000382483.3 - 4 5932 c.5709A>G c.(5707-5709)tcA>tcG p.S1903S NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1903 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CTGCACCTTCTGACTCTGGCT 0.587000 48 36 0 0 0.003610 0 0 HRNR 388697 broad.mit.edu 37 1 152193255 152193255 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:152193255C>T ENST00000368801.2 - 3 925 c.850G>A c.(850-852)Ggt>Agt p.G284S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 284 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) CCATGCTGACCATAGCTGGAA 0.592000 44 105 0 0 0.003610 0 0 HTR5A 3361 broad.mit.edu 37 7 154876129 154876129 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:154876129C>T ENST00000287907.2 + 2 1582 c.1006C>T c.(1006-1008)Ctg>Ttg p.L336L HTR5A_ENST00000486819.1_3'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 336 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CTTTAACCCCCTGATCTATAC 0.488000 32 72 0 0 0.003755 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125204409 125204409 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:125204409G>A ENST00000431078.1 + 6 1177 c.813G>A c.(811-813)tcG>tcA p.S271S NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 271 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) ACTGGCACTCGGTCCTCATTG 0.612000 11 27 0 0 0.000978 0 0 ZNF407 55628 broad.mit.edu 37 18 72346877 72346877 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:72346877C>T ENST00000299687.5 + 1 3902 c.3902C>T c.(3901-3903)cCc>cTc p.P1301L ZNF407_ENST00000582337.1_Missense_Mutation_p.P1301L|ZNF407_ENST00000577538.1_Missense_Mutation_p.P1301L|ZNF407_ENST00000309902.6_Missense_Mutation_p.P1301L NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1301 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) CAAGAAGATCCCGTTCTGGGG 0.448000 3 9 0 0 0.004672 0 0 PITPNM1 9600 broad.mit.edu 37 11 67262362 67262362 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:67262362G>A ENST00000356404.3 - 18 2922 c.2697C>T c.(2695-2697)ttC>ttT p.F899F PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000436757.2_Silent_p.F898F|PITPNM1_ENST00000534749.1_Silent_p.F899F NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 899 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 TCTCCCTGGGGAAGGCCGGGC 0.672000 39 54 0 0 0.002522 0 0 MASP1 5648 broad.mit.edu 37 3 186940961 186940961 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:186940961C>T ENST00000337774.5 - 14 2152 c.1763G>A c.(1762-1764)gGc>gAc p.G588D NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 588 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CTTCCCCCAGCCGCTGACGAT 0.537000 16 41 0 0 0.001216 0 0 TDRKH 11022 broad.mit.edu 37 1 151748675 151748675 + Nonsense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:151748675G>A ENST00000368822.1 - 8 1747 c.1114C>T c.(1114-1116)Cga>Tga p.R372* TDRKH_ENST00000368823.1_Nonsense_Mutation_p.R368*|TDRKH_ENST00000440583.2_Nonsense_Mutation_p.R148*|TDRKH_ENST00000458431.2_Nonsense_Mutation_p.R372*|TDRKH_ENST00000368827.6_Nonsense_Mutation_p.R372*|TDRKH_ENST00000368824.3_Nonsense_Mutation_p.R372*|TDRKH_ENST00000368825.3_Nonsense_Mutation_p.R327* Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing 372 Tudor. RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) ACCCGGGCTCGATACCAGGAA 0.507000 23 41 0 0 0.003954 0 0 TTN 7273 broad.mit.edu 37 2 179453660 179453660 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179453660C>T ENST00000589042.1 - 304 63016 c.62792G>A c.(62791-62793)gGa>gAa p.G20931E TTN_ENST00000342175.6_Missense_Mutation_p.G12058E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G18363E|TTN_ENST00000359218.5_Missense_Mutation_p.G11991E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G11866E|TTN_ENST00000591111.1_Missense_Mutation_p.G19290E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19290 Ig-like 112. 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) ATATTCATTTCCTTCTATGAG 0.378000 6 12 0 0 0.001168 0 0 TJP2 9414 broad.mit.edu 37 9 71861675 71861675 + Missense_Mutation SNP A A T rs75450131 byFrequency TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:71861675A>T ENST00000377245.4 + 18 2844 c.2636A>T c.(2635-2637)cAa>cTa p.Q879L TJP2_ENST00000539225.1_Missense_Mutation_p.Q910L|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000265384.7_Missense_Mutation_p.Q879L|TJP2_ENST00000348208.4_Missense_Mutation_p.Q879L|TJP2_ENST00000453658.2_Missense_Mutation_p.Q856L|TJP2_ENST00000535702.1_Missense_Mutation_p.Q883L NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 879 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 CAGCATCAGCAAGGAGAAGCG 0.423000 13 54 0 0 0.001855 0 0 MPDZ 8777 broad.mit.edu 37 9 13119586 13119586 + Missense_Mutation SNP C C G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:13119586C>G ENST00000319217.7 - 39 5541 c.5294G>C c.(5293-5295)aGa>aCa p.R1765T MPDZ_ENST00000381022.2_Missense_Mutation_p.R1765T|MPDZ_ENST00000381015.4_Missense_Mutation_p.R1765T|MPDZ_ENST00000447879.1_Missense_Mutation_p.R1732T|MPDZ_ENST00000536827.1_Missense_Mutation_p.R1732T|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000546205.1_Missense_Mutation_p.R1779T|MPDZ_ENST00000538841.1_Missense_Mutation_p.R624T|MPDZ_ENST00000541718.1_Missense_Mutation_p.R1765T NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1765 PDZ 11. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) CTGCATCAGTCTTCCATCGGC 0.413000 29 26 0 0 0.001786 0 0 KIF26B 55083 broad.mit.edu 37 1 245704184 245704184 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:245704184C>T ENST00000366518.4 + 2 243 c.139C>T c.(139-141)Cct>Tct p.P47S KIF26B_ENST00000407071.2_Missense_Mutation_p.P428S Q2KJY2 KI26B_HUMAN kinesin family member 26B 428 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GCAGACCTCCCCTCCCCCAGC 0.592000 17 32 0 0 0.004007 0 0 GPR115 221393 broad.mit.edu 37 6 47682264 47682264 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:47682264C>T ENST00000283303.2 + 6 1541 c.1283C>T c.(1282-1284)tCc>tTc p.S428F GPR115_ENST00000327753.3_Missense_Mutation_p.S428F|GPR115_ENST00000371220.1_Missense_Mutation_p.S485F NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 428 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 ACAGTGTGGTCCCGGGTGGTT 0.493000 34 28 0 0 0.003755 0 0 TPCN2 219931 broad.mit.edu 37 11 68854621 68854621 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:68854621C>T ENST00000294309.3 + 24 2228 c.2127C>T c.(2125-2127)ccC>ccT p.P709P TPCN2_ENST00000542467.1_Silent_p.P527P|TPCN2_ENST00000442692.2_3'UTR NM_139075.3 NP_620714.2 Q8NHX9 TPC2_HUMAN two pore segment channel 2 709 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) ACCTGCAGCCCCTTGCTGGGA 0.637000 5 22 0 0 0.001168 0 0 HERPUD1 9709 broad.mit.edu 37 16 56976092 56976092 + Silent SNP C C T rs34040285 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:56976092C>T ENST00000439977.2 + 7 1151 c.954C>T c.(952-954)ttC>ttT p.F318F HERPUD1_ENST00000379792.2_Silent_p.F293F|HERPUD1_ENST00000300302.5_Silent_p.F317F|HERPUD1_ENST00000344114.4_Silent_p.F159F|HERPUD1_ENST00000570273.1_3'UTR NM_001010989.1|NM_014685.2 NP_001010989.1|NP_055500.1 Q15011 HERP1_HUMAN homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 318 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 11 TTCAGAACTTCCCAAATGATG 0.488000 T ERG prostate 38 67 0 0 0.002222 0 0 ULK4 54986 broad.mit.edu 37 3 41959954 41959954 + Missense_Mutation SNP G G C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:41959954G>C ENST00000301831.4 - 7 1184 c.722C>G c.(721-723)cCg>cGg p.P241R ULK4_ENST00000420927.1_Missense_Mutation_p.P241R NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 241 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) CTTACCTTTCGGAATAGGTGG 0.318000 18 50 0 0 0.001523 0 0 EPB41L5 57669 broad.mit.edu 37 2 120858317 120858317 + Missense_Mutation SNP T T G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:120858317T>G ENST00000263713.5 + 16 1478 c.1264T>G c.(1264-1266)Tcc>Gcc p.S422A EPB41L5_ENST00000443902.2_Missense_Mutation_p.S422A|EPB41L5_ENST00000452780.1_Missense_Mutation_p.S422A|EPB41L5_ENST00000443124.1_Missense_Mutation_p.S422A|EPB41L5_ENST00000331393.4_Missense_Mutation_p.S422A NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 422 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 TCCTTccatttcctctgctcc 0.413000 8 9 0 0 0.004482 0 0 FRAS1 80144 broad.mit.edu 37 4 79443874 79443874 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:79443874G>A ENST00000264895.6 + 69 11160 c.10720G>A c.(10720-10722)Gga>Aga p.G3574R NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3569 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CCACCTAGGAGGAATTGAATT 0.423000 5 12 0 0 0.000602 0 0 GRIA1 2890 broad.mit.edu 37 5 153174180 153174180 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:153174180G>A ENST00000285900.5 + 14 2613 c.e14-1 GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000521843.2_Splice_Site|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000518142.1_Splice_Site|GRIA1_ENST00000518783.1_Splice_Site NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CGTTTTTAAAGAAATCCAGTA 0.473000 11 9 0 0 0.000673 0 0 NCKAP5 344148 broad.mit.edu 37 2 133489377 133489377 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:133489377G>A ENST00000409261.1 - 17 5749 c.5376C>T c.(5374-5376)tcC>tcT p.S1792S NCKAP5_ENST00000409213.1_Silent_p.S473S|NCKAP5_ENST00000405974.3_Silent_p.S473S|NCKAP5_ENST00000317721.6_Silent_p.S1792S NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1792 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TGATGGGGTCGGATGTGGAAT 0.547000 25 37 0 0 0.005443 0 0 ROBO1 6091 broad.mit.edu 37 3 78667166 78667166 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:78667166G>A ENST00000436010.2 - 25 4781 c.3784C>T c.(3784-3786)Cca>Tca p.P1262S ROBO1_ENST00000467549.1_Missense_Mutation_p.P1201S|ROBO1_ENST00000464233.1_Missense_Mutation_p.P1301S|ROBO1_ENST00000495273.1_Missense_Mutation_p.P1256S Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1301 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GGCCGTGGTGGTGGAGGAGGA 0.478000 8 25 0 0 0.006214 0 0 OR10G2 26534 broad.mit.edu 37 14 22102462 22102462 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:22102462C>T ENST00000542433.1 - 1 634 c.537G>A c.(535-537)gtG>gtA p.V179V NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) TAAAGTAATCCACCTGATTGG 0.572000 18 37 0 0 0.007413 0 0 HS3ST2 9956 broad.mit.edu 37 16 22926633 22926633 + Missense_Mutation SNP T T G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:22926633T>G ENST00000261374.3 + 2 1288 c.854T>G c.(853-855)aTg>aGg p.M285R NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 285 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) GCCGGCGAGATGGGGCGAGTC 0.522000 24 87 0 0 0.003330 0 0 CHRD 8646 broad.mit.edu 37 3 184106458 184106458 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:184106458C>T ENST00000204604.1 + 21 2884 c.2638C>T c.(2638-2640)Cca>Tca p.P880S EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.P422S|CHRD_ENST00000348986.3_Missense_Mutation_p.P840S|CHRD_ENST00000450923.1_Missense_Mutation_p.P880S NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 880 VWFC 4. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCAGTGGTTCCCAGAGAGTCA 0.637000 20 54 0 0 0.002299 0 0 MAP3K9 4293 broad.mit.edu 37 14 71199520 71199520 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:71199520C>T ENST00000554752.2 - 11 2565 c.2566G>A c.(2566-2568)Gaa>Aaa p.E856K MAP3K9_ENST00000554146.1_Missense_Mutation_p.E584K|MAP3K9_ENST00000553414.1_Missense_Mutation_p.E589K|MAP3K9_ENST00000555993.2_Missense_Mutation_p.E870K|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E833K P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 856 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) ACGACAATTTCATCGCTGTCG 0.602000 13 9 0 0 0.001855 0 0 ANGPTL7 10218 broad.mit.edu 37 1 11254942 11254942 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:11254942C>T ENST00000376819.3 + 5 1142 c.903C>T c.(901-903)tcC>tcT p.S301S ANGPTL7_ENST00000476934.1_3'UTR|MTOR_ENST00000361445.4_Intron NM_021146.2 NP_066969.1 O43827 ANGL7_HUMAN angiopoietin-like 7 301 Fibrinogen C-terminal. response to oxidative stress|signal transduction extracellular region receptor binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487) GCACAGACTCCAACCTCAATG 0.517000 10 24 0 0 0.000673 0 0 XIRP2 129446 broad.mit.edu 37 2 168105004 168105004 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:168105004C>T ENST00000409195.1 + 9 7191 c.7102C>T c.(7102-7104)Cct>Tct p.P2368S XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2368S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2146S NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2193 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 GCCGCCTCCTCCTCCTCCAAC 0.473000 28 63 0 0 0.005443 0 0 OR8B12 219858 broad.mit.edu 37 11 124413323 124413323 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:124413323G>A ENST00000306842.2 - 1 252 c.228C>T c.(226-228)atC>atT p.I76I NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) TTTTGGGAGTGATGGTAGTGG 0.428000 10 14 0 0 0.006214 0 0 FAM57B 83723 broad.mit.edu 37 16 30040777 30040777 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:30040777G>A ENST00000380495.4 - 2 916 c.185C>T c.(184-186)tCc>tTc p.S62F FAM57B_ENST00000564806.1_Missense_Mutation_p.S12F|FAM57B_ENST00000279389.4_Missense_Mutation_p.S12F NM_031478.4 NP_113666.2 Q71RH2 FA57B_HUMAN family with sequence similarity 57, member B 62 TLC. endoplasmic reticulum|integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 GTGCTTGCAGGAGGTGGAGAC 0.607000 9 11 0 0 0.006214 0 0 ARRDC4 91947 broad.mit.edu 37 15 98512492 98512492 + Silent SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:98512492A>G ENST00000268042.6 + 5 929 c.765A>G c.(763-765)cgA>cgG p.R255R ARRDC4_ENST00000538249.1_Silent_p.R168R NM_183376.2 NP_899232.2 Q8NCT1 ARRD4_HUMAN arrestin domain containing 4 255 signal transduction breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3) 16 Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222) OV - Ovarian serous cystadenocarcinoma(32;0.0417) CCAATGTGCGAGGAAACCACA 0.468000 13 20 0 0 0.002450 0 0 DHX37 57647 broad.mit.edu 37 12 125441594 125441594 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:125441594G>A ENST00000308736.2 - 17 2343 c.2245C>T c.(2245-2247)Ccg>Tcg p.P749S DHX37_ENST00000544745.1_Missense_Mutation_p.P536S NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 749 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) TTCTGGGGCGGTTGCAGGGCA 0.627000 24 36 0 0 0.003330 0 0 ADIPOR1 51094 broad.mit.edu 37 1 202914124 202914124 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:202914124G>A ENST00000340990.5 - 5 902 c.604C>T c.(604-606)Cgg>Tgg p.R202W ADIPOR1_ENST00000436244.1_Missense_Mutation_p.R202W|ADIPOR1_ENST00000367254.3_Intron NM_015999.4 NP_057083.2 Q96A54 ADR1_HUMAN adiponectin receptor 1 202 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity p.R202R(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(75;0.141) GAAAAAGTCCGAGAGACTTTC 0.453000 39 75 0 0 0.002222 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768148 77768148 + Missense_Mutation SNP C C G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:77768148C>G ENST00000521891.2 + 10 9439 c.8991C>G c.(8989-8991)atC>atG p.I2997M ZFHX4_ENST00000518282.1_Missense_Mutation_p.I2971M|ZFHX4_ENST00000050961.6_Missense_Mutation_p.I2952M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.I2952M NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2952 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) CTTTCATGATCAATCAAGGCG 0.473000 HNSCC(33;0.089) 6 23 0 0 0.003080 0 0 PCSK5 5125 broad.mit.edu 37 9 78842419 78842419 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:78842419G>A ENST00000545128.1 + 21 3165 c.2626_splice c.e21-1 p.G876_splice NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 876 PLAC. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TGTTCCCCAGGAGAATATGTT 0.527000 3 10 0 0 0.004672 0 0 TPH1 7166 broad.mit.edu 37 11 18047183 18047183 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:18047183G>A ENST00000250018.2 - 7 1431 c.869C>T c.(868-870)tCc>tTc p.S290F TPH1_ENST00000341556.2_Missense_Mutation_p.S290F NM_004179.2 NP_004170.1 P17752 TPH1_HUMAN tryptophan hydroxylase 1 290 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1) 25 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) AATTTCTTGGGAGAATTGGGC 0.463000 27 19 0 0 0.006320 0 0 ZNF676 163223 broad.mit.edu 37 19 22363473 22363473 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:22363473G>A ENST00000397121.2 - 3 1363 c.1046C>T c.(1045-1047)tCc>tTc p.S349F NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AAGGATTGAGGATCGATTAAA 0.403000 10 17 0 0 0.000673 0 0 KIAA1199 57214 broad.mit.edu 37 15 81171205 81171205 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:81171205G>A ENST00000394685.3 + 4 657 c.238G>A c.(238-240)Gga>Aga p.G80R KIAA1199_ENST00000220244.3_Missense_Mutation_p.G80R|KIAA1199_ENST00000356249.5_Missense_Mutation_p.G80R Q8WUJ3 K1199_HUMAN KIAA1199 80 G8. breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 CATCTCAGAGGGAGGTAAGCC 0.547000 21 50 0 0 0.002299 0 0 CHIA 27159 broad.mit.edu 37 1 111854318 111854318 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:111854318C>T ENST00000369740.1 + 3 136 c.33C>T c.(31-33)gtC>gtT p.V11V CHIA_ENST00000353665.6_5'UTR|CHIA_ENST00000343320.6_Silent_p.V11V|CHIA_ENST00000430615.1_5'UTR|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000451398.2_5'UTR NM_001258001.1|NM_201653.3 NP_001244930.1|NP_970615.2 Q9BZP6 CHIA_HUMAN chitinase, acidic 11 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) CAGGTCTTGTCCTTATACTGA 0.383000 36 78 0 0 0.007835 0 0 C4BPA 722 broad.mit.edu 37 1 207318012 207318012 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:207318012G>A ENST00000367070.3 + 12 1938 c.1744G>A c.(1744-1746)Gaa>Aaa p.E582K NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 582 complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 TGAACAACTGGAACTACAGAG 0.443000 8 19 0 0 0.006214 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65209040 65209040 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:65209040C>T ENST00000247226.7 + 14 2945 c.2637C>T c.(2635-2637)ctC>ctT p.L879L PLEKHG3_ENST00000394691.1_Silent_p.L935L|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000471182.2_Silent_p.L468L|PLEKHG3_ENST00000484731.2_Silent_p.L440L NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 935 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) AGTACAGCCTCCGGATCAAGA 0.622000 4 9 0 0 0.001168 0 0 PADI3 51702 broad.mit.edu 37 1 17597630 17597630 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:17597630C>T ENST00000375460.3 + 9 1044 c.1004C>T c.(1003-1005)aCc>aTc p.T335I NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 335 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 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;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TGCAAGCTGACCATCTGCCCA 0.632000 15 13 0 0 0.004990 0 0 KIF17 57576 broad.mit.edu 37 1 21011439 21011439 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:21011439C>T ENST00000247986.2 - 10 2404 c.2094G>A c.(2092-2094)caG>caA p.Q698Q KIF17_ENST00000375044.1_Silent_p.Q598Q|KIF17_ENST00000400463.3_Silent_p.Q698Q|KIF17_ENST00000490034.1_5'UTR Q9P2E2 KIF17_HUMAN kinesin family member 17 698 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CCACCGGGGCCTGAGCCTCCA 0.647000 3 6 0 0 0.004672 0 0 JPH3 57338 broad.mit.edu 37 16 87723259 87723259 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:87723259G>A ENST00000284262.2 + 4 1535 c.1293G>A c.(1291-1293)gaG>gaA p.E431E JPH3_ENST00000563609.1_3'UTR NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 431 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) CAGGGCTGGAGTACCAGAGGC 0.667000 5 2 0 0 0.001168 0 0 C19orf53 28974 broad.mit.edu 37 19 13888974 13888974 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:13888974G>A ENST00000588234.1 + 3 572 c.262G>A c.(262-264)Ggg>Agg p.G88R C19orf53_ENST00000593274.1_Missense_Mutation_p.G45R NM_014047.2 NP_054766.1 Q9UNZ5 L10K_HUMAN chromosome 19 open reading frame 53 88 breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19) CAAGAAGAAAGGGGCAGCTGC 0.597000 14 43 0 0 0.001855 0 0 CTAG2 30848 broad.mit.edu 37 X 153880851 153880851 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:153880851G>A ENST00000247306.4 - 2 387 c.324C>T c.(322-324)atC>atT p.I108I CTAG2_ENST00000369585.3_Silent_p.I108I NM_020994.3 NP_066274.1 O75638 CTAG2_HUMAN cancer/testis antigen 2 108 centrosome p.I108I(3) central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1) 10 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCCGGGACAGGATCCTGCGGA 0.612000 22 7 0 0 0.003330 0 0 MIR7-2 407044 broad.mit.edu 37 15 89155069 89155069 + RNA SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:89155069G>A ENST00000384970.1 + 0 14 NR_029606.1|NR_039867.1 GATACAGAGTGGACCGGCTGG 0.587000 7 7 0 0 0.004482 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77401410 77401410 + Missense_Mutation SNP A A T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:77401410A>T ENST00000282849.5 - 4 1124 c.706T>A c.(706-708)Tct>Act p.S236T ADAMTS18_ENST00000567121.1_5'UTR NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 236 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CGACTCTGAGATGCATGGGGA 0.483000 18 61 0 0 0.001216 0 0 UNC13D 201294 broad.mit.edu 37 17 73839597 73839597 + Nonsense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:73839597G>A ENST00000207549.4 - 2 500 c.121C>T c.(121-123)Cag>Tag p.Q41* UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Nonsense_Mutation_p.Q41* NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 41 positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) GATGGAGGCTGGATCTGCAGA 0.642000 Familial Hemophagocytic Lymphohistiocytosis 10 15 0 0 0.000978 0 0 FSHR 2492 broad.mit.edu 37 2 49244644 49244644 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:49244644G>A ENST00000406846.2 - 4 477 c.358C>T c.(358-360)Ccc>Tcc p.P120S FSHR_ENST00000346173.3_Missense_Mutation_p.P120S|FSHR_ENST00000304421.4_Missense_Mutation_p.P120S NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 120 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TGAAGGTTGGGAAGGTTCTGG 0.403000 Gonadal Dysgenesis, 46 XX 9 22 0 0 0.000978 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50190432 50190432 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:50190432G>A ENST00000335999.6 - 8 1412 c.1211C>T c.(1210-1212)cCc>cTc p.P404L NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 400 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 GCTAAGGAAGGGGAGGGGCCC 0.627000 4 19 0 0 0.000602 0 0 ERAL1 26284 broad.mit.edu 37 17 27182104 27182104 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:27182104G>A ENST00000254928.5 + 1 149 c.52G>A c.(52-54)Gtc>Atc p.V18I ERAL1_ENST00000578001.1_3'UTR NM_005702.2 NP_005693.1 O75616 ERAL1_HUMAN Era-like 12S mitochondrial rRNA chaperone 1 18 RV -> KI (in Ref. 3; AAG12978). ribosomal small subunit assembly mitochondrial inner membrane|mitochondrial matrix GTP binding|ribosomal small subunit binding|rRNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105) GGTGTTAAGAGTCTGGCAGGT 0.637000 13 11 0 0 0.001855 0 0 OR5R1 219479 broad.mit.edu 37 11 56185322 56185322 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:56185322G>A ENST00000312253.1 - 1 386 c.387C>T c.(385-387)ccC>ccT p.P129P NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 129 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) AATAATGCAGGGGACTACAGA 0.468000 25 39 0 0 0.003954 0 0 PTPLAD1 51495 broad.mit.edu 37 15 65862521 65862521 + Nonsense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:65862521G>A ENST00000261875.5 + 8 919 c.753G>A c.(751-753)tgG>tgA p.W251* PTPLAD1_ENST00000442729.2_Nonsense_Mutation_p.W196*|PTPLAD1_ENST00000566074.1_Nonsense_Mutation_p.W134*|PTPLAD1_ENST00000565299.1_Nonsense_Mutation_p.W289*|PTPLAD1_ENST00000562901.1_Nonsense_Mutation_p.W134*|PTPLAD1_ENST00000569894.1_Nonsense_Mutation_p.W134*|PTPLAD1_ENST00000568793.1_Nonsense_Mutation_p.W226*|PTPLAD1_ENST00000566511.1_Nonsense_Mutation_p.W134* NM_016395.2 NP_057479.2 Q9P035 HACD3_HUMAN protein tyrosine phosphatase-like A domain containing 1 251 activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction endoplasmic reticulum membrane|integral to membrane GTPase activator activity|lyase activity|protein binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1) 5 TTTATTTGTGGAGTGCAATTG 0.383000 16 36 0 0 0.007413 0 0 CD22 933 broad.mit.edu 37 19 35829139 35829139 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:35829139C>T ENST00000085219.5 + 6 1120 c.1054C>T c.(1054-1056)Ctt>Ttt p.L352F CD22_ENST00000419549.2_Missense_Mutation_p.L180F|CD22_ENST00000536635.2_Intron|CD22_ENST00000594250.1_Intron|CD22_ENST00000341773.6_Intron|CD22_ENST00000544992.2_Missense_Mutation_p.L352F|CD22_ENST00000270311.6_Missense_Mutation_p.L232F NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 352 Ig-like C2-type 3. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) AGTCGAGTTTCTTTGCATGTC 0.537000 21 30 0 0 0.003954 0 0 C8orf4 56892 broad.mit.edu 37 8 40011065 40011065 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:40011065G>A ENST00000315792.3 + 1 77 c.14G>A c.(13-15)cGa>cAa p.R5Q NM_020130.4 NP_064515.1 Q9NR00 CH004_HUMAN chromosome 8 open reading frame 4 5 apoptosis breast(1)|large_intestine(1)|ovary(1) 3 Ovarian(28;0.0173) all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141) LUSC - Lung squamous cell carcinoma(45;0.000149) KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) AAAGCAAAGCGAAGCCACCAA 0.517000 13 8 0 0 0.002450 0 0 ABCA10 10349 broad.mit.edu 37 17 67212047 67212047 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:67212047C>T ENST00000269081.4 - 9 1676 c.767G>A c.(766-768)gGa>gAa p.G256E ABCA10_ENST00000416101.2_Missense_Mutation_p.G256E|ABCA10_ENST00000432313.2_Missense_Mutation_p.G256E NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 256 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) CACAGTGAATCCCAGACATCC 0.423000 20 57 0 0 0.001523 0 0 HEPACAM 220296 broad.mit.edu 37 11 124794925 124794925 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:124794925C>T ENST00000298251.4 - 2 531 c.126G>A c.(124-126)ctG>ctA p.L42L NM_152722.4 NP_689935.2 Q14CZ8 HECAM_HUMAN hepatic and glial cell adhesion molecule 42 Ig-like V-type. cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) TGCCATGGATCAGGCGCACGG 0.617000 11 9 0 0 0.000978 0 0 TNR 7143 broad.mit.edu 37 1 175328855 175328855 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:175328855G>A ENST00000367674.1 - 15 3575 c.2867C>T c.(2866-2868)cCt>cTt p.P956L TNR_ENST00000263525.2_Missense_Mutation_p.P956L NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 956 Fibronectin type-III 8. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.P956H(1) 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) CAGATCCACAGGGTTGTCCAT 0.473000 12 26 0 0 0.001368 0 0 ZFPM1 161882 broad.mit.edu 37 16 88599317 88599317 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:88599317G>A ENST00000319555.3 + 9 1485 c.1163G>A c.(1162-1164)gGa>gAa p.G388E NM_153813.2 NP_722520.2 Q8IX07 FOG1_HUMAN zinc finger protein, FOG family member 1 388 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding central_nervous_system(1)|ovary(2)|urinary_tract(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0478) CCAGGGGCCGGACACCCAGCA 0.647000 11 24 0 0 0.001368 0 0 TTN 7273 broad.mit.edu 37 2 179614760 179614760 + Missense_Mutation SNP C C A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179614760C>A ENST00000360870.5 - 46 12589 c.12367G>T c.(12367-12369)Gtg>Ttg p.V4123L TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3477 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) GTTTGAAACACTTCTTTAGAC 0.393000 18 25 1.55795e-14 2.04314e-14 0.001882 1 0 FAM74A3 728495 broad.mit.edu 37 9 40716266 40716266 + RNA SNP A A T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:40716266A>T ENST00000604146.1 + 0 605 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CATCAATTTTAGTAATTCAGG 0.428000 7 45 0 0 0.004482 0 0 TLE6 79816 broad.mit.edu 37 19 2987014 2987014 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:2987014C>T ENST00000246112.4 + 7 520 c.319C>T c.(319-321)Ccc>Tcc p.P107S TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_5'UTR NM_001143986.1 NP_001137458.1 Q9H808 TLE6_HUMAN transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) 0 regulation of transcription, DNA-dependent nucleus breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1) 10 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) CCCTGGGACGCCCCAGCAGGT 0.637000 9 6 0 0 0.004482 0 0 TTLL5 23093 broad.mit.edu 37 14 76245981 76245981 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:76245981C>T ENST00000298832.9 + 24 2656 c.2451C>T c.(2449-2451)ttC>ttT p.F817F TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Silent_p.F831F|TTLL5_ENST00000556893.1_Silent_p.F368F|TTLL5_ENST00000554510.1_Silent_p.F326F NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 817 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) CTAGTGTCTTCCTGGGGACTC 0.393000 10 15 0 0 0.001368 0 0 TMEM132D 121256 broad.mit.edu 37 12 129694134 129694134 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:129694134C>T ENST00000422113.2 - 5 1700 c.1374G>A c.(1372-1374)gaG>gaA p.E458E RP11-669N7.3_ENST00000542578.1_lincRNA NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 458 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TGCCGTCGTCCTCCACGGAGA 0.567000 9 11 0 0 0.000673 0 0 MIR381HG 378881 broad.mit.edu 37 14 101515945 101515945 + RNA SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:101515945G>A ENST00000553692.1 + 0 28 MIR655_ENST00000362159.2_RNA CATTCATCATGAATAATACAT 0.483000 22 19 0 0 0.002299 0 0 USP40 55230 broad.mit.edu 37 2 234460057 234460057 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:234460057G>A ENST00000251722.6 - 7 919 c.802C>T c.(802-804)Cct>Tct p.P268S USP40_ENST00000427112.2_Missense_Mutation_p.P268S|USP40_ENST00000450966.1_Missense_Mutation_p.P280S Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 268 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) ATCCGGAGAGGGAATGTATAA 0.338000 7 13 0 0 0.004482 0 0 LRRN2 10446 broad.mit.edu 37 1 204587896 204587896 + Missense_Mutation SNP G G A rs141763834 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:204587896G>A ENST00000367175.1 - 1 3437 c.1225C>T c.(1225-1227)Cgt>Tgt p.R409C LRRN2_ENST00000367176.3_Missense_Mutation_p.R409C|LRRN2_ENST00000367177.3_Missense_Mutation_p.R409C O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 409 LRRCT. cell adhesion integral to membrane receptor activity p.R409C(1) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GGCACCTCACGGACCGGGAGG 0.657000 13 24 0 0 0.001855 0 0 LCA5 167691 broad.mit.edu 37 6 80223458 80223458 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:80223458G>A ENST00000392959.1 - 4 802 c.190_splice c.e4-1 p.A64_splice LCA5_ENST00000467898.2_Splice_Site_p.A64_splice|LCA5_ENST00000369846.4_Splice_Site_p.A64_splice NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 64 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) TTTCCGAGGGGCTAAAAAAGA 0.433000 49 43 0 0 0.003610 0 0 ACRC 93953 broad.mit.edu 37 X 70817802 70817802 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:70817802C>T ENST00000373695.1 + 6 761 c.224C>T c.(223-225)tCc>tTc p.S75F ACRC_ENST00000373696.3_Missense_Mutation_p.S75F Q96QF7 ACRC_HUMAN acidic repeat containing 75 nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) TCACTCAGCTCCGTGGTAGTG 0.398000 4 10 0 0 0.000602 0 0 ANTXR2 118429 broad.mit.edu 37 4 80952847 80952847 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:80952847C>T ENST00000403729.2 - 10 1322 c.e10-1 ANTXR2_ENST00000307333.7_Splice_Site|ANTXR2_ENST00000404191.1_Splice_Site|ANTXR2_ENST00000295465.4_Splice_Site|ANTXR2_ENST00000346652.6_Intron NM_058172.5 NP_477520.2 P58335 ANTR2_HUMAN anthrax toxin receptor 2 endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 13 GGTTTTACACCTAGAAAATAA 0.323000 Juvenile Hyaline Fibromatosis 3 6 0 0 0.000248 0 0 DDX50 79009 broad.mit.edu 37 10 70670979 70670979 + Missense_Mutation SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:70670979A>G ENST00000373585.3 + 4 723 c.616A>G c.(616-618)Att>Gtt p.I206V NM_024045.1 NP_076950.1 Q9BQ39 DDX50_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 206 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 TCAAGAAACAATTAAAAAAAG 0.373000 27 56 0 0 0.001512 0 0 TRPM5 29850 broad.mit.edu 37 11 2436352 2436352 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:2436352G>A ENST00000452833.1 - 9 1492 c.1485_splice c.e9+1 p.A495_splice TRPM5_ENST00000533060.1_Splice_Site_p.A493_splice|TRPM5_ENST00000528453.1_Splice_Site_p.A493_splice|TRPM5_ENST00000155858.6_Splice_Site_p.A493_splice Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 493 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) CCCGCTCACCGCCCTCCTGCG 0.731000 10 10 0 0 0.006214 0 0 CYP4F11 57834 broad.mit.edu 37 19 16032847 16032847 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:16032847C>T ENST00000326742.7 - 8 1116 c.1115_splice c.e8+1 p.W372_splice CYP4F11_ENST00000248041.7_Splice_Site_p.W372_splice|CYP4F11_ENST00000402119.3_Splice_Site_p.W372_splice Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 372 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 CTGCACTCACCATTCAATCTC 0.498000 8 35 0 0 0.004482 0 0 ANXA5 308 broad.mit.edu 37 4 122593728 122593728 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:122593728G>A ENST00000296511.5 - 9 870 c.585C>T c.(583-585)atC>atT p.I195I ANXA5_ENST00000501272.2_Silent_p.I135I|ANXA5_ENST00000515017.1_Silent_p.I95I NM_001154.3 NP_001145.1 P08758 ANXA5_HUMAN annexin A5 195 anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1) 15 CAAAGATGGTGATAAACTTTT 0.373000 9 33 0 0 0.006214 0 0 MYH10 4628 broad.mit.edu 37 17 8455375 8455375 + Missense_Mutation SNP T T A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:8455375T>A ENST00000360416.3 - 9 1046 c.908A>T c.(907-909)gAa>gTa p.E303V MYH10_ENST00000269243.4_Missense_Mutation_p.E293V|MYH10_ENST00000379980.4_Missense_Mutation_p.E309V|MYH10_ENST00000396239.1_Missense_Mutation_p.E293V NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 293 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 CTTTAGGTGTTCTCCTGCTCC 0.328000 18 6 0 0 0.002299 0 0 TCTE1 202500 broad.mit.edu 37 6 44255329 44255329 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:44255329G>A ENST00000371505.4 - 2 356 c.234C>T c.(232-234)ctC>ctT p.L78L TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'UTR NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 78 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GCTCTGTGAGGAGGGGCACGA 0.582000 6 12 0 0 0.001168 0 0 SLC5A5 6528 broad.mit.edu 37 19 18004596 18004596 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:18004596C>T ENST00000222248.3 + 15 2189 c.1842C>T c.(1840-1842)ttC>ttT p.F614F NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 614 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GTCTGTTTTTCTTGGGGCAGA 0.577000 7 2 0 0 0.003080 0 0 PLCB4 5332 broad.mit.edu 37 20 9351883 9351883 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:9351883G>A ENST00000378501.2 + 7 541 c.526G>A c.(526-528)Gga>Aga p.G176R PLCB4_ENST00000278655.4_Missense_Mutation_p.G176R|PLCB4_ENST00000414679.2_Missense_Mutation_p.G176R|PLCB4_ENST00000334005.3_Missense_Mutation_p.G176R|PLCB4_ENST00000378493.1_Missense_Mutation_p.G176R|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.G176R NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 176 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 ATTTGCATCGGGAAAAACAGA 0.358000 18 54 0 0 0.001216 0 0 SLC9A2 6549 broad.mit.edu 37 2 103300793 103300793 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:103300793C>T ENST00000233969.2 + 5 1565 c.1423C>T c.(1423-1425)Ctg>Ttg p.L475L NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 475 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TGTCTTCATTCTGGTAAGTAG 0.388000 18 51 0 0 0.007413 0 0 PCLO 27445 broad.mit.edu 37 7 82579779 82579779 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:82579779G>A ENST00000423517.2 - 6 10462 c.10125C>T c.(10123-10125)acC>acT p.T3375T PCLO_ENST00000437081.1_Silent_p.T95T|PCLO_ENST00000333891.8_Silent_p.T3375T NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3306 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CAGACTGAACGGTGTACCATC 0.458000 10 16 0 0 0.006214 0 0 OLFM3 118427 broad.mit.edu 37 1 102312501 102312501 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:102312501G>A ENST00000338858.5 - 1 28 c.29C>T c.(28-30)gCt>gTt p.A10V OLFM3_ENST00000370103.4_Intron|OLFM3_ENST00000359814.3_Missense_Mutation_p.A10V|OLFM3_ENST00000462354.1_Intron Q96PB7 NOE3_HUMAN olfactomedin 3 10 extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) ACTAAGCACAGCGCCAAGCTT 0.537000 18 33 0 0 0.007413 0 0 KLB 152831 broad.mit.edu 37 4 39439414 39439414 + Nonsense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:39439414G>A ENST00000257408.4 + 3 1501 c.1404G>A c.(1402-1404)tgG>tgA p.W468* NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 468 Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 GCTTTGAATGGCAGGATGCTT 0.418000 27 49 0 0 0.005443 0 0 TTN 7273 broad.mit.edu 37 2 179422840 179422840 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179422840C>T ENST00000589042.1 - 328 87465 c.87241G>A c.(87241-87243)Gat>Aat p.D29081N TTN_ENST00000342175.6_Missense_Mutation_p.D20208N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D26513N|TTN_ENST00000359218.5_Missense_Mutation_p.D20141N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D20016N|TTN_ENST00000591111.1_Missense_Mutation_p.D27440N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27440 Fibronectin type-III 112. 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) GGGACACCATCTCTTGATAAG 0.423000 29 49 0 0 0.006320 0 0 ACACB 32 broad.mit.edu 37 12 109673144 109673144 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:109673144C>T ENST00000338432.7 + 32 4493 c.4374C>T c.(4372-4374)ctC>ctT p.L1458L ACACB_ENST00000377848.3_Silent_p.L1458L|ACACB_ENST00000543201.1_Silent_p.L124L|ACACB_ENST00000377854.5_Silent_p.L1388L O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1458 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) ATTATGGACTCCGACGAATCA 0.388000 14 40 0 0 0.004007 0 0 OR2B11 127623 broad.mit.edu 37 1 247615041 247615041 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:247615041C>T ENST00000318749.6 - 1 267 c.244G>A c.(244-246)Gtc>Atc p.V82I NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 82 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) ATCTGAGGGACTGTCGTGGTG 0.562000 24 44 0 0 0.003330 0 0 SCG3 29106 broad.mit.edu 37 15 51993421 51993421 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:51993421G>A ENST00000220478.3 + 10 1590 c.1187G>A c.(1186-1188)gGa>gAa p.G396E SCG3_ENST00000542355.2_Missense_Mutation_p.G164E NM_013243.3 NP_037375.2 Q8WXD2 SCG3_HUMAN secretogranin III 396 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) AACCCAGGAGGAAAGACAGAT 0.433000 9 23 0 0 0.006214 0 0 FLNC 2318 broad.mit.edu 37 7 128490508 128490508 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:128490508C>T ENST00000325888.8 + 32 5630 c.5369C>T c.(5368-5370)cCc>cTc p.P1790L FLNC_ENST00000346177.6_Missense_Mutation_p.P1757L|RP11-309L24.2_ENST00000469965.1_RNA NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1790 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CTGGTCATCCCCTTCGCGGTG 0.612000 41 58 0 0 0.002852 0 0 OR1S2 219958 broad.mit.edu 37 11 57971029 57971029 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:57971029C>T ENST00000302592.6 - 1 624 c.625G>A c.(625-627)Gag>Aag p.E209K NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) AACACAAGCTCATTGATCATT 0.443000 23 46 0 0 0.002780 0 0 PPM1A 5494 broad.mit.edu 37 14 60750007 60750007 + Missense_Mutation SNP G G T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:60750007G>T ENST00000395076.4 + 2 1016 c.586G>T c.(586-588)Gcc>Tcc p.A196S PPM1A_ENST00000325642.3_Missense_Mutation_p.A269S|PPM1A_ENST00000325658.3_Missense_Mutation_p.A196S|PPM1A_ENST00000529574.1_Missense_Mutation_p.A196S NM_021003.4 NP_066283.1 P35813 PPM1A_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1A 196 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.046) TGTATCGAGGGCCCTTGGGGA 0.458000 31 46 5.45727e-16 7.17155e-16 0.001512 1 0 PEG3 5178 broad.mit.edu 37 19 57335922 57335922 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:57335922G>A ENST00000326441.9 - 4 465 c.102C>T c.(100-102)atC>atT p.I34I ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Silent_p.I34I|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Intron|PEG3_ENST00000593695.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 34 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTTCTCCTATGATGACATCCG 0.483000 22 39 0 0 0.002299 0 0 ACOXL 55289 broad.mit.edu 37 2 111556243 111556243 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:111556243C>T ENST00000389811.4 + 6 626 c.402C>T c.(400-402)gcC>gcT p.A134A ACOXL_ENST00000340561.4_Silent_p.A134A|ACOXL_ENST00000439055.1_Silent_p.A134A Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 134 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 TTGGAAATGCCATGTACGGGA 0.413000 22 38 0 0 0.002780 0 0 SCN10A 6336 broad.mit.edu 37 3 38743502 38743502 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:38743502C>T ENST00000449082.2 - 26 4484 c.4485G>A c.(4483-4485)gtG>gtA p.V1495V NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1495 sensory perception voltage-gated sodium channel complex p.V1495V(1) 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) CATCAGTCTCCACCATCATGG 0.448000 18 33 0 0 0.001216 0 0 PAQR8 85315 broad.mit.edu 37 6 52268165 52268165 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:52268165C>T ENST00000442253.2 + 2 328 c.154C>T c.(154-156)Cgc>Tgc p.R52C PAQR8_ENST00000360726.3_Missense_Mutation_p.R52C NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII 52 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) GCCTTACATCCGCACCGGCTA 0.607000 13 17 0 0 0.003163 0 0 RP1 6101 broad.mit.edu 37 8 55540583 55540583 + Missense_Mutation SNP A A C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:55540583A>C ENST00000220676.1 + 4 4289 c.4141A>C c.(4141-4143)Aaa>Caa p.K1381Q NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1381 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCCTGAATATAAAAATGGATT 0.328000 25 48 0 0 0.003330 0 0 EDAR 10913 broad.mit.edu 37 2 109522810 109522810 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:109522810C>T ENST00000409271.1 - 11 1517 c.1074G>A c.(1072-1074)agG>agA p.R358R EDAR_ENST00000376651.1_Silent_p.R358R|EDAR_ENST00000258443.2_Silent_p.R326R Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 326 Death. R -> Q (in EDA). apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 GGATCTTTTTCCTCCGGCTTT 0.507000 7 41 0 0 0.003080 0 0 OR9G1 390174 broad.mit.edu 37 11 56468463 56468463 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:56468463C>T ENST00000312153.1 + 1 600 c.600C>T c.(598-600)ttC>ttT p.F200F NM_001005213.1 NP_001005213.1 olfactory receptor, family 9, subfamily G, member 1 breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1) 31 TGATGTACTTCCTGCTGGCCT 0.512000 14 83 0 0 0.002450 0 0 CDCA5 113130 broad.mit.edu 37 11 64847068 64847068 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:64847068G>A ENST00000275517.3 - 5 607 c.435C>T c.(433-435)tcC>tcT p.S145S CDCA5_ENST00000404147.3_Silent_p.S145S NM_080668.3 NP_542399.1 Q96FF9 CDCA5_HUMAN cell division cycle associated 5 145 cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin cytoplasm|nuclear chromatin|plasma membrane chromatin binding|identical protein binding large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GCCGGCTGTAGGAACGCCTGA 0.632000 5 15 0 0 0.001984 0 0 MUC16 94025 broad.mit.edu 37 19 9061528 9061528 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:9061528G>A ENST00000397910.4 - 3 26121 c.25918C>T c.(25918-25920)Cat>Tat p.H8640Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8642 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 GAGGAGGGATGAATTTTCTCT 0.433000 29 31 0 0 0.001512 0 0 ATP1A3 478 broad.mit.edu 37 19 42482796 42482796 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:42482796G>A ENST00000545399.1 - 12 1784 c.1631C>T c.(1630-1632)gCc>gTc p.A544V ATP1A3_ENST00000543770.1_Missense_Mutation_p.A542V|ATP1A3_ENST00000302102.5_Missense_Mutation_p.A531V|ATP1A3_ENST00000602133.1_Missense_Mutation_p.A501V NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 531 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 CTCAAGGTAGGCATTCTGGAA 0.667000 24 39 0 0 0.003330 0 0 SLC9A5 6553 broad.mit.edu 37 16 67298344 67298344 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:67298344G>A ENST00000299798.11 + 13 1997 c.1932G>A c.(1930-1932)cgG>cgA p.R644R NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 644 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) TGAAGCGGCGGCTGGAGTCCT 0.577000 9 17 0 0 0.004482 0 0 HHLA2 11148 broad.mit.edu 37 3 108072514 108072514 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:108072514G>A ENST00000357759.5 + 4 719 c.305G>A c.(304-306)gGg>gAg p.G102E HHLA2_ENST00000467562.1_Intron|HHLA2_ENST00000491820.1_Missense_Mutation_p.G102E|HHLA2_ENST00000467761.1_Missense_Mutation_p.G102E|HHLA2_ENST00000489514.2_Missense_Mutation_p.G102E NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 102 Ig-like V-type 1. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 ATTCAAAATGGGAATGCGTCG 0.398000 12 23 0 0 0.001368 0 0 SLIT2 9353 broad.mit.edu 37 4 20599938 20599938 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:20599938C>T ENST00000504154.1 + 33 3864 c.3612C>T c.(3610-3612)gaC>gaT p.D1204D SLIT2_ENST00000503823.1_Silent_p.D1196D|SLIT2_ENST00000273739.5_Silent_p.D1217D|SLIT2_ENST00000503837.1_Silent_p.D1200D NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1204 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GTGACAAAGACCATATCGCGG 0.493000 38 70 0 0 0.004289 0 0 POU6F1 5463 broad.mit.edu 37 12 51584284 51584284 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:51584284C>T ENST00000389243.4 - 11 1591 c.652G>A c.(652-654)Gaa>Aaa p.E218K POU6F1_ENST00000550824.1_Missense_Mutation_p.E218K|POU6F1_ENST00000333640.10_Missense_Mutation_p.E218K Q14863 PO6F1_HUMAN POU class 6 homeobox 1 218 brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 TGCTGGCCTTCCTGGTTCCGC 0.572000 49 91 0 0 0.003610 0 0 OR1Q1 158131 broad.mit.edu 37 9 125377779 125377779 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:125377779C>T ENST00000297913.2 + 1 832 c.763C>T c.(763-765)Ctc>Ttc p.L255F RP11-64P14.7_ENST00000431442.1_RNA NM_012364.1 NP_036496.1 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, member 1 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 CTATGGCACCCTCAGTTGGGT 0.557000 25 42 0 0 0.001786 0 0 CACNA1C 775 broad.mit.edu 37 12 2224674 2224674 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:2224674C>T ENST00000399655.1 + 2 599 c.334C>T c.(334-336)Ccc>Tcc p.P112S CACNA1C_ENST00000399595.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000480911.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.P112S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.P112S|CACNA1C_ENST00000399637.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.P112S|CACNA1C_ENST00000399629.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000327702.7_Missense_Mutation_p.P112S|CACNA1C_ENST00000399644.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.P112S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.P112S|CACNA1C_ENST00000347598.4_Missense_Mutation_p.P112S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.P112S 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 112 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) CCTGAAGAACCCCATCCGGAG 0.637000 8 31 0 0 0.006214 0 0 COL4A1 1282 broad.mit.edu 37 13 110838746 110838746 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:110838746G>A ENST00000375820.4 - 26 2004 c.1883C>T c.(1882-1884)tCc>tTc p.S628F NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 628 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CAGGCCTGGGGATCCAGGGCC 0.622000 44 90 0 0 0.003610 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786753 19786753 + Nonsense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:19786753G>A ENST00000341998.2 - 1 173 c.112C>T c.(112-114)Cga>Tga p.R38* SLC24A2_ENST00000286344.3_Nonsense_Mutation_p.R38* NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 38 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) CCTAAGACTCGAATTAACTTC 0.443000 33 35 0 0 0.002445 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526076 176526076 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:176526076G>A ENST00000367662.3 + 2 1782 c.618G>A c.(616-618)gcG>gcA p.A206A PAPPA2_ENST00000367661.3_Silent_p.A206A NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 206 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 AGAGGCGGGCGGAAGATGGGC 0.567000 31 60 0 0 0.002445 0 0 MS4A2 2206 broad.mit.edu 37 11 59861437 59861437 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:59861437G>A ENST00000278888.3 + 6 640 c.537_splice c.e6-1 p.E180_splice NM_000139.4 NP_000130.1 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 2 180 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) TGTTCAATAGGAAATTGTAGT 0.413000 7 23 0 0 0.004482 0 0 NMS 129521 broad.mit.edu 37 2 101086967 101086967 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:101086967C>T ENST00000376865.1 + 1 24 c.17C>T c.(16-18)cCc>cTc p.P6L NM_001011717.1 NP_001011717.1 Q5H8A3 NMS_HUMAN neuromedin S 6 P -> S (in dbSNP:rs13411940). neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1) 14 CATCTTCGTCCCCAGTTCCCT 0.547000 30 74 0 0 0.001786 0 0 KLK9 284366 broad.mit.edu 37 19 51512788 51512788 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:51512788G>A ENST00000376832.4 - 1 49 c.16C>T c.(16-18)Ctc>Ttc p.L6F KLK9_ENST00000594211.1_Missense_Mutation_p.L6F|KLK9_ENST00000250366.6_Missense_Mutation_p.L6F|CTB-147C22.9_ENST00000594512.1_RNA NM_012315.1 NP_036447.1 Q9UKQ9 KLK9_HUMAN kallikrein-related peptidase 9 6 proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1) 7 all_neural(266;0.0652) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) AGAGCACAGAGGAGTCCCAGC 0.607000 14 14 0 0 0.002450 0 0 SYNPO2 171024 broad.mit.edu 37 4 119948008 119948008 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:119948008C>T ENST00000307142.4 + 3 680 c.484C>T c.(484-486)Ccg>Tcg p.P162S SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P162S|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P162S NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 162 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AGAAACAGGCCCGAGCTACCA 0.552000 8 16 0 0 0.003080 0 0 HOXB2 3212 broad.mit.edu 37 17 46620505 46620505 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:46620505G>A ENST00000330070.4 - 2 2163 c.996C>T c.(994-996)agC>agT p.S332S HOXB2_ENST00000504772.3_5'UTR NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 332 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 AAGGGACCGGGCTGTCGAGAG 0.567000 36 83 0 0 0.006230 0 0 KCNG4 93107 broad.mit.edu 37 16 84270723 84270723 + Silent SNP G G A rs144555438 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:84270723G>A ENST00000568181.1 - 2 489 c.369C>T c.(367-369)atC>atT p.I123I KCNG4_ENST00000308251.4_Silent_p.I123I Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 123 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 GGAAGCTCACGATCACCCCGA 0.632000 8 28 0 0 0.006214 0 0 FRY 10129 broad.mit.edu 37 13 32776495 32776495 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:32776495C>T ENST00000380250.3 + 31 4345 c.3849C>T c.(3847-3849)atC>atT p.I1283I NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1283 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) CTTTATAGATCCTTGAAGCAA 0.388000 14 39 0 0 0.001855 0 0 TPO 7173 broad.mit.edu 37 2 1418268 1418268 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:1418268C>T ENST00000345913.4 + 2 179 c.88C>T c.(88-90)Ctt>Ttt p.L30F TPO_ENST00000382269.3_Missense_Mutation_p.L30F|TPO_ENST00000349624.3_Missense_Mutation_p.L30F|TPO_ENST00000346956.3_Missense_Mutation_p.L30F|TPO_ENST00000382201.3_Missense_Mutation_p.L30F|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.L30F|TPO_ENST00000382198.1_Missense_Mutation_p.L30F|TPO_ENST00000329066.4_Missense_Mutation_p.L30F|TPO_ENST00000539820.1_Missense_Mutation_p.L30F NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 30 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) GAAAGAACTCCTTTGGGGTAA 0.458000 10 13 0 0 0.001855 0 0 LOC440040 440040 broad.mit.edu 37 11 49831499 49831499 + RNA SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:49831499C>T ENST00000527477.1 + 0 1724 ATTGGGCTTTCGGTGTTTGTA 0.448000 10 7 0 0 0.000673 0 0 EPB41 2035 broad.mit.edu 37 1 29314203 29314203 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:29314203C>T ENST00000343067.4 + 2 381 c.254C>T c.(253-255)tCg>tTg p.S85L EPB41_ENST00000398863.2_Missense_Mutation_p.S85L|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000347529.3_Missense_Mutation_p.S85L|EPB41_ENST00000373797.1_Missense_Mutation_p.S85L|EPB41_ENST00000356093.2_Missense_Mutation_p.S85L|EPB41_ENST00000373798.1_Missense_Mutation_p.S85L|EPB41_ENST00000349460.4_5'UTR NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 85 blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) CTATTCTCCTCGTTTCTCAAA 0.433000 34 58 0 0 0.003755 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453655 84453655 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:84453655G>A ENST00000377084.2 - 1 2873 c.1988C>T c.(1987-1989)tCc>tTc p.S663F NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 663 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) TGTCTGTAGGGAATTAATCTC 0.557000 13 18 0 0 0.001855 0 0 DOCK3 1795 broad.mit.edu 37 3 51418527 51418527 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:51418527G>A ENST00000266037.9 + 53 5653 c.5630G>A c.(5629-5631)gGt>gAt p.G1877D NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1877 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CCCCAGTCAGGTCTGGACGGC 0.617000 19 30 0 0 0.003330 0 0 NPAP1 23742 broad.mit.edu 37 15 24921244 24921244 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:24921244C>T ENST00000329468.2 + 1 704 c.230C>T c.(229-231)gCt>gTt p.A77V NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CTCCCTCGGGCTGCGGCCGCC 0.706000 12 21 0 0 0.001368 0 0 ECM2 1842 broad.mit.edu 37 9 95285032 95285032 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:95285032C>T ENST00000344604.5 - 2 266 c.117G>A c.(115-117)agG>agA p.R39R ECM2_ENST00000375540.1_Silent_p.R39R|CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.R39R NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 39 cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 TTGAACTTTTCCTCAACCTTC 0.363000 37 50 0 0 0.006999 0 0 SENP1 29843 broad.mit.edu 37 12 48483073 48483073 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:48483073G>A ENST00000339976.6 - 5 702 c.320C>T c.(319-321)cCa>cTa p.P107L SENP1_ENST00000004980.5_Intron|SENP1_ENST00000551330.1_Intron|SENP1_ENST00000448372.1_Intron|SENP1_ENST00000549595.1_Intron|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000549518.1_Intron Q9P0U3 SENP1_HUMAN SUMO1/sentrin specific peptidase 1 0 Ser-rich. activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) TCCCAGGCCTGGGCCTGAAAG 0.473000 6 15 0 0 0.001168 0 0 SAMD12 401474 broad.mit.edu 37 8 119391936 119391936 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:119391936C>T ENST00000409003.4 - 4 454 c.326G>A c.(325-327)cGa>cAa p.R109Q SAMD12_ENST00000314727.4_Missense_Mutation_p.R109Q|AC023590.1_ENST00000430457.1_Intron NM_001101676.1 NP_001095146.1 Q8N8I0 SAM12_HUMAN sterile alpha motif domain containing 12 109 SAM. endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2) 9 all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249) STAD - Stomach adenocarcinoma(47;0.00391) CAGCAGGGCTCGCCCTGCAGG 0.478000 23 43 0 0 0.006320 0 0 CRB1 23418 broad.mit.edu 37 1 197390611 197390611 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:197390611G>A ENST00000367400.3 + 6 1788 c.1653G>A c.(1651-1653)caG>caA p.Q551Q CRB1_ENST00000543483.1_Silent_p.Q250Q|CRB1_ENST00000538660.1_Silent_p.Q551Q|CRB1_ENST00000544212.1_Silent_p.Q32Q|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Silent_p.Q482Q|CRB1_ENST00000367399.2_Silent_p.Q439Q NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 551 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 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 TCAATAATCAGTCAAAGGTGC 0.458000 29 63 0 0 0.001786 0 0 POU2F3 25833 broad.mit.edu 37 11 120187960 120187960 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:120187960G>A ENST00000260264.4 + 12 1198 c.1164G>A c.(1162-1164)ggG>ggA p.G388G POU2F3_ENST00000543440.2_Silent_p.G386G NM_001244682.1 NP_001231611.1 Q9UKI9 PO2F3_HUMAN POU class 2 homeobox 3 386 Ser-rich. negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) GTTCCCCTGGGAACAACAGCA 0.547000 16 27 0 0 0.006122 0 0 PTX4 390667 broad.mit.edu 37 16 1537417 1537417 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:1537417C>T ENST00000447419.2 - 2 721 c.696G>A c.(694-696)ggG>ggA p.G232G PTX4_ENST00000293922.1_Silent_p.G227G|PTX4_ENST00000440447.2_Intron Q96A99 PTX4_HUMAN pentraxin 4, long 232 extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GCTCCCGCCTCCCTTGGAGAG 0.682000 11 18 0 0 0.001855 0 0 GOLPH3L 55204 broad.mit.edu 37 1 150620962 150620962 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:150620962G>A ENST00000271732.3 - 5 737 c.693C>T c.(691-693)tcC>tcT p.S231S GOLPH3L_ENST00000540514.1_Silent_p.S187S NM_018178.5 NP_060648.2 Q9H4A5 GLP3L_HUMAN golgi phosphoprotein 3-like 231 Golgi cisterna membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) GCACATCAGAGGAGTGGGCTA 0.478000 28 56 0 0 0.002836 0 0 TKTL2 84076 broad.mit.edu 37 4 164393683 164393683 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:164393683C>T ENST00000280605.3 - 1 1364 c.1204G>A c.(1204-1206)Gat>Aat p.D402N NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 402 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CGGAGCTGATCGAATGCTCTA 0.488000 12 21 0 0 0.000978 0 0 PPP1R15B 84919 broad.mit.edu 37 1 204378972 204378972 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:204378972G>A ENST00000367188.4 - 1 1947 c.1568C>T c.(1567-1569)tCc>tTc p.S523F RP11-739N20.2_ENST00000443515.1_RNA NM_032833.3 NP_116222.3 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 523 regulation of translation breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3) 34 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) AGACTGGGAGGAATTCTCTAG 0.478000 13 23 0 0 0.004007 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12921316 12921316 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:12921316C>T ENST00000240189.2 + 4 1194 c.1107C>T c.(1105-1107)atC>atT p.I369I NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 369 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) TCAGTGCCATCCTGCCTGGCC 0.562000 38 64 0 0 0.003755 0 0 DLGAP1 9229 broad.mit.edu 37 18 3879294 3879294 + Missense_Mutation SNP A A C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:3879294A>C ENST00000315677.3 - 4 1370 c.775T>G c.(775-777)Tgc>Ggc p.C259G DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.C259G|DLGAP1_ENST00000584874.1_Missense_Mutation_p.C259G|DLGAP1_ENST00000581527.1_Missense_Mutation_p.C259G NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 259 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) CAGGTGGAGCACTTGACGTCG 0.662000 13 35 0 0 0.002450 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482336 140482336 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:140482336C>T ENST00000231130.2 + 1 2103 c.2103C>T c.(2101-2103)ttC>ttT p.F701F NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 701 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTCGCTCTTCCTCTTTTCGG 0.697000 56 36 0 0 0.003610 0 0 FAM115C 285966 broad.mit.edu 37 7 143421595 143421595 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:143421595C>T ENST00000441159.2 + 7 2376 c.2310C>T c.(2308-2310)ttC>ttT p.F770F FAM115C_ENST00000444908.2_Silent_p.F770F|FAM115C_ENST00000357344.4_Silent_p.F770F|FAM115C_ENST00000411497.2_Silent_p.F489F|FAM115C_ENST00000409703.3_Silent_p.F666F|FAM115C_ENST00000425618.2_Silent_p.F489F|FAM115C_ENST00000411935.1_Silent_p.F666F A6NFQ2 F115C_HUMAN family with sequence similarity 115, member C 770 endometrium(2)|large_intestine(4)|lung(2)|prostate(1) 9 GATGGGAGTTCCCCCCACACA 0.592000 5 16 0 0 0.001984 0 0 GIPC1 10755 broad.mit.edu 37 19 14591154 14591154 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:14591154G>A ENST00000393033.4 - 6 887 c.618C>T c.(616-618)acC>acT p.T206T GIPC1_ENST00000586027.1_Silent_p.T206T|GIPC1_ENST00000393028.1_Silent_p.T109T|GIPC1_ENST00000393029.3_Silent_p.T109T|GIPC1_ENST00000345425.2_Silent_p.T206T|GIPC1_ENST00000591349.1_Silent_p.T109T NM_005716.3 NP_005707.1 O14908 GIPC1_HUMAN GIPC PDZ domain containing family, member 1 206 PDZ. endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 TCAGCGTGAAGGTACGGCCTC 0.701000 OREG0025316 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 43 0 0 0.002450 0 0 TTLL5 23093 broad.mit.edu 37 14 76156614 76156614 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:76156614C>T ENST00000298832.9 + 6 656 c.451C>T c.(451-453)Cac>Tac p.H151Y TTLL5_ENST00000557636.1_Missense_Mutation_p.H151Y|TTLL5_ENST00000286650.5_Missense_Mutation_p.H151Y NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 151 TTL. protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) CAAGGCTTTTCACATCCTCCC 0.463000 8 15 0 0 0.000978 0 0 TTN 7273 broad.mit.edu 37 2 179395008 179395008 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179395008C>T ENST00000589042.1 - 358 106558 c.106334G>A c.(106333-106335)gGa>gAa p.G35445E TTN_ENST00000342175.6_Missense_Mutation_p.G26572E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G32877E|TTN_ENST00000359218.5_Missense_Mutation_p.G26505E|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G26380E|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G33804E|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33804 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) CCGGGGTTCTCCAGTAGCCTT 0.383000 32 84 0 0 0.003755 0 0 BCL2L11 10018 broad.mit.edu 37 2 111881509 111881509 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:111881509C>T ENST00000393256.3 + 2 460 c.187C>T c.(187-189)Ccg>Tcg p.P63S BCL2L11_ENST00000308659.8_Intron|BCL2L11_ENST00000405953.1_Intron|BCL2L11_ENST00000393253.2_Intron|BCL2L11_ENST00000337565.5_Intron|BCL2L11_ENST00000357757.2_Missense_Mutation_p.P63S NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3 NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1 O43521 B2L11_HUMAN BCL2-like 11 (apoptosis facilitator) 63 activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane protein binding endometrium(4)|large_intestine(3)|lung(2)|prostate(2) 11 CCCTCAGGGCCCGCTGGCCCC 0.612000 11 23 0 0 0.000673 0 0 C5AR2 27202 broad.mit.edu 37 19 47844877 47844877 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:47844877C>T ENST00000595464.1 + 2 1039 c.821C>T c.(820-822)cCc>cTc p.P274L C5AR2_ENST00000257267.2_Missense_Mutation_p.P274L|C5AR2_ENST00000600626.1_Missense_Mutation_p.P274L NM_001271749.1 NP_001258678.1 complement component 5a receptor 2 CGGGCTGAACCCCTCATCGTG 0.647000 13 29 0 0 0.001855 0 0 POLR3A 11128 broad.mit.edu 37 10 79785850 79785850 + Splice_Site SNP A A C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:79785850A>C ENST00000372371.3 - 2 318 c.e2+1 NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) AGGGGGCCTTACCATCCTATG 0.537000 17 40 0 0 0.001882 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3678478 3678478 + Missense_Mutation SNP T T G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:3678478T>G ENST00000344754.4 - 8 2088 c.2089A>C c.(2089-2091)Aac>Cac p.N697H SIGLEC1_ENST00000202578.4_Missense_Mutation_p.N697H NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 697 Ig-like C2-type 6. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GTGGAGGCGTTGCCCAGGGCA 0.617000 10 24 0 0 0.000978 0 0 TTN 7273 broad.mit.edu 37 2 179416693 179416693 + Missense_Mutation SNP C C A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179416693C>A ENST00000589042.1 - 335 91158 c.90934G>T c.(90934-90936)Gtc>Ttc p.V30312F TTN_ENST00000342175.6_Missense_Mutation_p.V21439F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V27744F|TTN_ENST00000359218.5_Missense_Mutation_p.V21372F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V21247F|TTN_ENST00000591111.1_Missense_Mutation_p.V28671F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28671 Fibronectin type-III 121. 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) ATGCTTGAGACAAGTGGTTGG 0.438000 33 62 4.65686e-17 6.12392e-17 0.003755 1 0 CUEDC2 79004 broad.mit.edu 37 10 104183554 104183554 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:104183554C>T ENST00000369937.4 - 7 802 c.e7+1 CUEDC2_ENST00000465409.1_Splice_Site NM_024040.2 NP_076945.2 Q9H467 CUED2_HUMAN CUE domain containing 2 cytoplasm|nucleus protein binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.122) Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) cccagACTCACTTCTGCAGGA 0.612000 17 21 0 0 0.004007 0 0 SCN7A 6332 broad.mit.edu 37 2 167328867 167328867 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:167328867C>T ENST00000409855.1 - 5 658 c.532G>A c.(532-534)Gat>Aat p.D178N NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 178 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 TTCCATGGATCACCGAGGAAG 0.353000 8 12 0 0 0.003080 0 0 SPATA18 132671 broad.mit.edu 37 4 52946055 52946055 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:52946055G>A ENST00000295213.4 + 9 1699 c.1325G>A c.(1324-1326)gGa>gAa p.G442E SPATA18_ENST00000419395.2_Missense_Mutation_p.G410E NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 442 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) ATTGCATATGGAGCAGATGGA 0.418000 48 88 0 0 0.003610 0 0 TGM3 7053 broad.mit.edu 37 20 2312718 2312718 + Silent SNP G G A rs45594433 byFrequency TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:2312718G>A ENST00000381458.5 + 10 1467 c.1404G>A c.(1402-1404)gcG>gcA p.A468A NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 468 Cleavage; by CTSL. cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) CATTTGCCGCGACGTCTTCAA 0.522000 13 23 0 0 0.001855 0 0 AFP 174 broad.mit.edu 37 4 74310740 74310740 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:74310740C>T ENST00000395792.2 + 7 844 c.744C>T c.(742-744)acC>acT p.T248T AFP_ENST00000226359.2_Silent_p.T248T NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein 248 Albumin 2. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGAAGTTTACCAAAGTTAATT 0.358000 Alpha-Fetoprotein, Hereditary Persistence of 11 14 0 0 0.000978 0 0 FBN3 84467 broad.mit.edu 37 19 8175966 8175966 + Missense_Mutation SNP T T G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:8175966T>G ENST00000600128.1 - 33 4600 c.4186A>C c.(4186-4188)Acc>Ccc p.T1396P FBN3_ENST00000601739.1_Missense_Mutation_p.T1396P|FBN3_ENST00000270509.2_Missense_Mutation_p.T1396P Q75N90 FBN3_HUMAN fibrillin 3 1396 EGF-like 21; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TGGTCCTCGGTGGGGTCAAAG 0.657000 5 7 0 0 0.000602 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117789427 117789427 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:117789427G>A ENST00000528626.1 - 2 221 c.148C>T c.(148-150)Cct>Tct p.P50S TMPRSS13_ENST00000524993.1_Missense_Mutation_p.P50S|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.P50S|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.P50S|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.P50S NM_001206789.1 NP_001193718.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 50 12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) CGGCCCGGAGGTGTCCCAGCT 0.682000 11 14 0 0 0.000673 0 0 HECW2 57520 broad.mit.edu 37 2 197297971 197297971 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:197297971G>A ENST00000260983.2 - 2 359 c.177C>T c.(175-177)tcC>tcT p.S59S NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 59 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CAGTTAAGCTGGAGCGGCTCT 0.572000 15 38 0 0 0.006122 0 0 MYO1H 283446 broad.mit.edu 37 12 109862586 109862586 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:109862586G>A ENST00000310903.5 + 17 1736 c.1630G>A c.(1630-1632)Gaa>Aaa p.E544K MYO1H_ENST00000431443.2_Missense_Mutation_p.E554K B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 TATCCTGAGGGAATGCTTCCT 0.502000 9 23 0 0 0.000978 0 0 RFT1 91869 broad.mit.edu 37 3 53133502 53133502 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:53133502C>T ENST00000296292.3 - 11 1164 c.1102_splice c.e11-1 p.G368_splice RFT1_ENST00000394738.3_Splice_Site_p.G329_splice NM_052859.3 NP_443091.1 Q96AA3 RFT1_HUMAN RFT1 homolog (S. cerevisiae) 368 carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) CAAAACAGGACCTACAAGGAA 0.498000 7 18 0 0 0.001984 0 0 NIN 51199 broad.mit.edu 37 14 51224663 51224663 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:51224663G>A ENST00000245441.5 - 18 3275 c.3085C>T c.(3085-3087)Ctc>Ttc p.L1029F NIN_ENST00000324330.9_Missense_Mutation_p.L1029F|NIN_ENST00000453196.1_Missense_Mutation_p.L1029F|NIN_ENST00000382041.3_Missense_Mutation_p.L1029F|NIN_ENST00000389868.3_Intron|NIN_ENST00000382043.4_Intron|NIN_ENST00000530997.2_Missense_Mutation_p.L1029F NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 1029 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) AGCATTGAGAGAGGAGATGTT 0.517000 T PDGFRB MPD 89 61 0 0 0.003610 0 0 KDM2A 22992 broad.mit.edu 37 11 67012770 67012770 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:67012770C>T ENST00000529006.2 + 14 2120 c.1674C>T c.(1672-1674)tcC>tcT p.S558S KDM2A_ENST00000398645.2_Silent_p.S558S|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Silent_p.S16S|KDM2A_ENST00000530342.1_Silent_p.S119S NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 558 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 CTGCTGCCTCCCCGATTGTGT 0.557000 31 45 0 0 0.001786 0 0 GOLGA2P5 55592 broad.mit.edu 37 12 100564765 100564765 + RNA SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:100564765C>T ENST00000397112.4 - 0 548 NR_036632.1 large_intestine(1)|lung(3) 4 TCTTTCTTTTCCTATAGGAAG 0.512000 26 39 0 0 0.001512 0 0 TTC3 7267 broad.mit.edu 37 21 38516888 38516888 + Silent SNP G G C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr21:38516888G>C ENST00000399017.2 + 21 4583 c.1836G>C c.(1834-1836)gtG>gtC p.V612V TTC3_ENST00000355666.1_Silent_p.V612V|TTC3_ENST00000354749.2_Silent_p.V612V|TTC3_ENST00000540756.1_Silent_p.V302V|TTC3_ENST00000479930.1_3'UTR NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 612 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) TTCCTGGAGTGTTAACTTGGC 0.343000 19 43 0 0 0.007413 0 0 HACL1 26061 broad.mit.edu 37 3 15604946 15604946 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:15604946G>A ENST00000321169.5 - 16 1990 c.1623C>T c.(1621-1623)tcC>tcT p.S541S HACL1_ENST00000435217.2_Silent_p.S300S|HACL1_ENST00000451445.2_Silent_p.S459S|HACL1_ENST00000456194.2_Silent_p.S514S|HACL1_ENST00000457447.2_Silent_p.S481S NM_012260.2 NP_036392.2 Q9UJ83 HACL1_HUMAN 2-hydroxyacyl-CoA lyase 1 541 fatty acid alpha-oxidation peroxisomal matrix carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 16 TCTGCCTCAGGGATTTTTGGA 0.443000 13 12 0 0 0.001855 0 0 F13B 2165 broad.mit.edu 37 1 197032154 197032154 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:197032154C>T ENST00000367412.1 - 2 141 c.98G>A c.(97-99)gGa>gAa p.G33E NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 33 Sushi 1. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 GGCAATTCTTCCATTTTCCAC 0.318000 61 106 0 0 0.003610 0 0 UBIAD1 29914 broad.mit.edu 37 1 11346122 11346122 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:11346122C>T ENST00000376810.5 + 2 1277 c.951C>T c.(949-951)ctC>ctT p.L317L UBIAD1_ENST00000376804.2_Intron NM_013319.2 NP_037451.1 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 317 menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) AGCTCAACCTCCTGCTGGGAC 0.547000 18 34 0 0 0.006122 0 0 PALD1 27143 broad.mit.edu 37 10 72298880 72298880 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:72298880C>T ENST00000263563.6 + 14 1870 c.1602C>T c.(1600-1602)gaC>gaT p.D534D NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 ACCTGACGGACGCCAAGAGGA 0.697000 9 11 0 0 0.004482 0 0 MROH9 80133 broad.mit.edu 37 1 170955851 170955851 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:170955851G>A ENST00000367759.4 + 10 1033 c.879_splice c.e10+1 p.M293_splice MROH9_ENST00000367758.3_Splice_Site_p.M293_splice NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 AGGTCACCATGGTAAGATACT 0.393000 16 31 0 0 0.007413 0 0 PTX4 390667 broad.mit.edu 37 16 1537418 1537418 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:1537418C>T ENST00000447419.2 - 2 720 c.695G>A c.(694-696)gGg>gAg p.G232E PTX4_ENST00000293922.1_Missense_Mutation_p.G227E|PTX4_ENST00000440447.2_Intron Q96A99 PTX4_HUMAN pentraxin 4, long 232 extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 CTCCCGCCTCCCTTGGAGAGG 0.687000 11 18 0 0 0.001855 0 0 ATXN3L 92552 broad.mit.edu 37 X 13337352 13337352 + Silent SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:13337352T>C ENST00000380622.2 - 1 1166 c.702A>G c.(700-702)gaA>gaG p.E234E GS1-600G8.3_ENST00000431486.1_RNA NM_001135995.1 NP_001129467.1 Q9H3M9 ATX3L_HUMAN ataxin 3-like 234 protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 GGCGGCTTAGTTCAAGGGCCC 0.423000 123 51 0 0 0.003610 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751234 19751234 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:19751234C>T ENST00000400113.3 - 4 993 c.889G>A c.(889-891)Gag>Aag p.E297K NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 297 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TTGGCTGGCTCGAAGCAGGCA 0.607000 32 63 0 0 0.004289 0 0 TENM3 55714 broad.mit.edu 37 4 183694726 183694726 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:183694726C>T ENST00000511685.1 + 23 5117 c.4994C>T c.(4993-4995)tCa>tTa p.S1665L TENM3_ENST00000406950.2_Missense_Mutation_p.S1665L|RP11-18D7.2_ENST00000513255.1_RNA teneurin transmembrane protein 3 GACATTGAGTCATCTAGCCGA 0.438000 27 64 0 0 0.006320 0 0 ABCA8 10351 broad.mit.edu 37 17 66871529 66871529 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:66871529G>A ENST00000269080.2 - 35 4520 c.4383C>T c.(4381-4383)tcC>tcT p.S1461S ABCA8_ENST00000586539.1_Silent_p.S1501S|ABCA8_ENST00000430352.2_Silent_p.S1501S NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1461 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GGTGTTGGATGGAACCGATAC 0.443000 11 36 0 0 0.000978 0 0 PRNP 5621 broad.mit.edu 37 20 4680141 4680141 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:4680141G>A ENST00000379440.4 + 2 562 c.275G>A c.(274-276)gGa>gAa p.G92E PRNP_ENST00000430350.2_Missense_Mutation_p.G92E NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2 NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1 P04156 PRIO_HUMAN prion protein 92 Interaction with GRB2, ERI3 and SYN1 (By similarity). axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane copper ion binding|identical protein binding|microtubule binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 14 Tetracycline(DB00759) TGGGGTCAAGGAGGTGGCACC 0.642000 13 18 0 0 0.001368 0 0 SCN4A 6329 broad.mit.edu 37 17 62050038 62050038 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:62050038C>T ENST00000578147.1 - 1 240 c.164G>A c.(163-165)cGa>cAa p.R55Q SCN4A_ENST00000435607.1_Missense_Mutation_p.R55Q P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 55 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) CAAGTCACTTCGTGGCTTCCG 0.627000 11 10 0 0 0.001368 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140754002 140754002 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:140754002C>T ENST00000517434.1 + 1 352 c.352C>T c.(352-354)Ccc>Tcc p.P118S PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_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) GAATCTTTATCCCGTGGAAGT 0.483000 22 17 0 0 0.002299 0 0 NLRP11 204801 broad.mit.edu 37 19 56321022 56321022 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:56321022C>T ENST00000443188.1 - 5 1664 c.954G>A c.(952-954)agG>agA p.R318R NLRP11_ENST00000589824.2_Silent_p.R318R|NLRP11_ENST00000589093.1_Silent_p.R318R|NLRP11_ENST00000592953.1_Silent_p.R219R|NLRP11_ENST00000360133.3_Silent_p.R318R NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 318 NACHT. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CTGCCGACGCCCTCTGGCGGT 0.498000 9 13 0 0 0.004482 0 0 TENM3 55714 broad.mit.edu 37 4 183601743 183601743 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:183601743C>T ENST00000511685.1 + 10 1810 c.1687C>T c.(1687-1689)Cgc>Tgc p.R563C TENM3_ENST00000406950.2_Missense_Mutation_p.R563C|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 CTCCAAGGGCCGCTGCCTGTG 0.557000 17 42 0 0 0.001523 0 0 REG4 83998 broad.mit.edu 37 1 120337285 120337285 + Missense_Mutation SNP C C T rs150927973 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:120337285C>T ENST00000354219.1 - 7 872 c.433G>A c.(433-435)Gaa>Aaa p.E145K REG4_ENST00000256585.5_Missense_Mutation_p.E145K|REG4_ENST00000530654.1_3'UTR NM_001159352.1 NP_001152824.1 Q9BYZ8 REG4_HUMAN regenerating islet-derived family, member 4 145 C-type lectin. extracellular region sugar binding p.E145K(2) central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2) 15 all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588) TTGTTGCATTCGTTGCTGCTC 0.423000 566 269 0 0 0.003610 0 0 KCNA2 3737 broad.mit.edu 37 1 111147292 111147292 + Missense_Mutation SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:111147292T>C ENST00000485317.1 - 3 786 c.113A>G c.(112-114)aAc>aGc p.N38S KCNA2_ENST00000369770.3_Missense_Mutation_p.N38S|KCNA2_ENST00000316361.4_Missense_Mutation_p.N38S|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.N38S P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 2 38 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) CCCTGAGATGTTGATCACCAC 0.582000 103 68 0 0 0.003610 0 0 DNAH5 1767 broad.mit.edu 37 5 13807809 13807809 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:13807809C>T ENST00000265104.4 - 47 7882 c.7778G>A c.(7777-7779)gGa>gAa p.G2593E NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2593 AAA 3 (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) TTTGGCTGTTCCTTGTTCACC 0.348000 Kartagener syndrome 5 5 0 0 0.003080 0 0 DRGX 644168 broad.mit.edu 37 10 50574372 50574372 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:50574372G>A ENST00000374139.2 - 6 591 c.581C>T c.(580-582)cCc>cTc p.P194L DRGX_ENST00000434016.1_Missense_Mutation_p.P199L C9JW76 C9JW76_HUMAN dorsal root ganglia homeobox 199 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 GCCATAGGTGGGAAGGAAGGA 0.607000 25 35 0 0 0.004656 0 0 DENND1A 57706 broad.mit.edu 37 9 126554907 126554907 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:126554907G>A ENST00000373624.2 - 3 292 c.91C>T c.(91-93)Cct>Tct p.P31S DENND1A_ENST00000394215.2_Intron|DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000373620.3_Missense_Mutation_p.P31S|DENND1A_ENST00000373618.1_Silent_p.I15I|DENND1A_ENST00000473039.1_5'UTR NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 31 UDENN. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 TGCACCTCAGGATCTGTAAAT 0.378000 9 30 0 0 0.000673 0 0 BPTF 2186 broad.mit.edu 37 17 65972017 65972017 + Missense_Mutation SNP G G T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:65972017G>T ENST00000321892.4 + 29 9108 c.9047G>T c.(9046-9048)tGt>tTt p.C3016F BPTF_ENST00000424123.3_Missense_Mutation_p.C2734F|BPTF_ENST00000335221.5_Missense_Mutation_p.C2873F|BPTF_ENST00000306378.6_Missense_Mutation_p.C2890F Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 3016 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TTTTACCAGTGTGCAGAAGTT 0.383000 37 36 4.67007e-22 6.14972e-22 0.001951 1 0 MUC16 94025 broad.mit.edu 37 19 9090179 9090179 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:9090179C>T ENST00000397910.4 - 1 1839 c.1636G>A c.(1636-1638)Gag>Aag p.E546K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 546 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 GGGGGTCTCTCTGTTTTCATG 0.527000 13 22 0 0 0.001855 0 0 KIAA1210 57481 broad.mit.edu 37 X 118221261 118221261 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:118221261G>A ENST00000402510.2 - 11 3931 c.3932C>T c.(3931-3933)tCc>tTc p.S1311F NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1311 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 AGAAACAGGGGAGACTTTTTG 0.493000 59 34 0 0 0.003610 0 0 CHN1 1123 broad.mit.edu 37 2 175779842 175779842 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:175779842C>T ENST00000409900.3 - 5 517 c.204G>A c.(202-204)ggG>ggA p.G68G CHN1_ENST00000409156.3_Silent_p.G68G|CHN1_ENST00000488080.1_5'UTR NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 68 SH2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) TGAGGTAGCTCCCCTCAGCCA 0.473000 T TAF15 extraskeletal myxoid chondrosarcoma 8 14 0 0 0.000978 0 0 EPN2 22905 broad.mit.edu 37 17 19237303 19237303 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:19237303C>T ENST00000314728.5 + 11 2146 c.1662C>T c.(1660-1662)ttC>ttT p.F554F EPN2_ENST00000575595.1_Silent_p.F262F|EPN2_ENST00000395620.2_Silent_p.F497F|EPN2_ENST00000571254.1_Silent_p.F490F|EPN2_ENST00000395618.3_Silent_p.F269F|EPN2_ENST00000347697.2_Silent_p.F497F|EPN2_ENST00000395626.1_Intron NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 554 3 X 3 AA repeats of N-P-F.|6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) TTAACCCTTTCCAGGTGAACC 0.652000 8 9 0 0 0.003080 0 0 ELL 8178 broad.mit.edu 37 19 18556038 18556038 + Missense_Mutation SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:18556038T>C ENST00000262809.4 - 11 1816 c.1745A>G c.(1744-1746)aAa>aGa p.K582R NM_006532.3 NP_006523.1 P55199 ELL_HUMAN elongation factor RNA polymerase II 582 positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction Cajal body|nuclear speck|transcription elongation factor complex protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1) 19 GBM - Glioblastoma multiforme(1328;7.81e-07) ACTCACCTTTTTGATTTTTCG 0.517000 T MLL AL 76 53 0 0 0.003610 0 0 MICALL1 85377 broad.mit.edu 37 22 38313756 38313756 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:38313756C>T ENST00000215957.6 + 4 506 c.380C>T c.(379-381)cCg>cTg p.P127L NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 127 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) CCCTGTTCCCCGCCGTCTGTA 0.617000 10 39 0 0 0.000978 0 0 MYO3A 53904 broad.mit.edu 37 10 26482238 26482238 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:26482238C>T ENST00000265944.5 + 32 4709 c.4543C>T c.(4543-4545)Cat>Tat p.H1515Y MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1515 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TTATCTACTTCATGTAAGTGG 0.443000 5 8 0 0 0.000602 0 0 MACC1 346389 broad.mit.edu 37 7 20199458 20199458 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:20199458C>T ENST00000400331.5 - 5 834 c.526G>A c.(526-528)Gag>Aag p.E176K MACC1_ENST00000332878.4_Missense_Mutation_p.E176K|MACC1_ENST00000589011.1_Missense_Mutation_p.E176K NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 176 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 TTATAAGCCTCCCGATCATTT 0.468000 18 41 0 0 0.007413 0 0 PRDM16 63976 broad.mit.edu 37 1 3334520 3334520 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:3334520C>T ENST00000378398.3 + 12 2902 c.2820C>T c.(2818-2820)tcC>tcT p.S940S PRDM16_ENST00000378391.2_Silent_p.S940S|PRDM16_ENST00000511072.1_Silent_p.S941S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Silent_p.S939S|PRDM16_ENST00000441472.2_Silent_p.S939S|PRDM16_ENST00000514189.1_Silent_p.S940S|PRDM16_ENST00000270722.5_Silent_p.S940S Q9HAZ2 PRD16_HUMAN PR domain containing 16 940 Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CAACGCTCTCCGACCCCATCC 0.667000 T EVI1 """MDS, AML""" 9 15 0 0 0.004482 0 0 GJB1 2705 broad.mit.edu 37 X 70443915 70443915 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:70443915G>A ENST00000374022.3 + 2 453 c.358G>A c.(358-360)Gtg>Atg p.V120M GJB1_ENST00000374029.1_Missense_Mutation_p.V120M|GJB1_ENST00000361726.6_Missense_Mutation_p.V120M NM_001097642.2 NP_001091111.1 P08034 CXB1_HUMAN gap junction protein, beta 1, 32kDa 120 Missing (in CMTX1).|V -> E (in CMTX1). cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development connexon complex|endoplasmic reticulum membrane|integral to membrane gap junction channel activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1) 10 Renal(35;0.156) CCTGGAGGAGGTGAAGAGGCA 0.562000 6 1 0 0 0.001984 0 0 LRRC75A-AS1 125144 broad.mit.edu 37 17 16342971 16342971 + RNA SNP A A G rs11540320 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:16342971A>G ENST00000475953.1 + 0 370 C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA NR_027667.1 CTCCCTCTTTAAGATTGCGTA 0.502000 40 44 0 0 0.003610 0 0 PHC3 80012 broad.mit.edu 37 3 169846497 169846497 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:169846497G>A ENST00000494943.1 - 8 1795 c.1727C>T c.(1726-1728)cCa>cTa p.P576L PHC3_ENST00000467570.1_Missense_Mutation_p.P535L|PHC3_ENST00000495893.1_Missense_Mutation_p.P588L Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 576 Pro-rich. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) AGGTGCTGGTGGTTGCACTTG 0.453000 13 20 0 0 0.001368 0 0 POU5F1B 5462 broad.mit.edu 37 8 128428624 128428624 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:128428624G>A ENST00000465342.2 + 2 1670 c.513G>A c.(511-513)ctG>ctA p.L171L CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.L171L|CASC8_ENST00000502082.1_RNA Q06416 P5F1B_HUMAN POU class 5 homeobox 1B 171 POU-specific. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|prostate(1)|urinary_tract(1) 3 GGCTCATCCTGGGGGTTCTAT 0.522000 6 10 0 0 0.001168 0 0 DTNBP1 84062 broad.mit.edu 37 6 15615601 15615601 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:15615601C>T ENST00000338950.5 - 6 490 c.385G>A c.(385-387)Gag>Aag p.E129K DTNBP1_ENST00000355917.3_Missense_Mutation_p.E129K|DTNBP1_ENST00000344537.5_Missense_Mutation_p.E129K NM_183040.2 NP_898861.1 Q96EV8 DTBP1_HUMAN dystrobrevin binding protein 1 129 actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 14 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) AGGTTGTTCTCTACCTCCTCA 0.368000 Hermansky-Pudlak syndrome 17 57 0 0 0.007413 0 0 EPHB4 2050 broad.mit.edu 37 7 100416162 100416162 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:100416162C>T ENST00000358173.3 - 7 1870 c.1402G>A c.(1402-1404)Gag>Aag p.E468K EPHB4_ENST00000360620.3_Missense_Mutation_p.E468K|EPHB4_ENST00000477446.1_5'UTR NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 468 Fibronectin type-III 2. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) TATTTGACCTCGTAGTCCAGC 0.642000 5 15 0 0 0.001168 0 0 KCNK1 3775 broad.mit.edu 37 1 233802523 233802523 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:233802523G>A ENST00000366621.3 + 2 706 c.538G>A c.(538-540)Gcc>Acc p.A180T KCNK1_ENST00000366620.1_Missense_Mutation_p.A64T|KCNK1_ENST00000472190.1_3'UTR NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 180 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) GCAGGTGGTGGCCATCGTCCA 0.607000 19 16 0 0 0.001882 0 0 RBBP6 5930 broad.mit.edu 37 16 24580361 24580361 + Missense_Mutation SNP C C T rs146591085 byFrequency TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:24580361C>T ENST00000319715.4 + 17 2782 c.2350C>T c.(2350-2352)Cgt>Tgt p.R784C RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.R750C NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 784 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) TCCTAATAAACGTAATGTACC 0.413000 9 17 0 0 0.000978 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8654159 8654159 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:8654159C>T ENST00000270328.4 - 17 2391 c.2125G>A c.(2125-2127)Gag>Aag p.E709K ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E709K|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.E196K Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 709 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 AAGACGCCCTCGATGGTCTCG 0.672000 13 15 0 0 0.002450 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73073628 73073628 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:73073628G>A ENST00000263674.3 + 14 5195 c.4845G>A c.(4843-4845)tcG>tcA p.S1615S NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1615 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 TTGCAGGCTCGGGCTTGGAGA 0.706000 7 18 0 0 0.003080 0 0 WDR93 56964 broad.mit.edu 37 15 90246397 90246397 + Nonstop_Mutation SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:90246397T>C ENST00000558000.1 + 3 574 c.520T>C c.(520-522)Tag>Cag p.*174Q WDR93_ENST00000268130.7_Intron|WDR93_ENST00000560294.1_Intron Q6P2C0 WDR93_HUMAN WD repeat domain 93 0 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) TCTTCCTTTTTAGCCTCATTT 0.428000 33 53 0 0 0.001786 0 0 MCTP1 79772 broad.mit.edu 37 5 94230531 94230531 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:94230531G>A ENST00000515393.1 - 11 1661 c.1662C>T c.(1660-1662)gtC>gtT p.V554V MCTP1_ENST00000429576.2_Silent_p.V287V|MCTP1_ENST00000505208.1_Silent_p.V333V|MCTP1_ENST00000505078.1_Silent_p.V70V|MCTP1_ENST00000312216.8_Silent_p.V333V NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 554 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) CTGACAGGTCGACCTGGCACC 0.468000 12 5 0 0 0.001368 0 0 SPAG17 200162 broad.mit.edu 37 1 118558676 118558676 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:118558676C>T ENST00000336338.5 - 29 4264 c.4199G>A c.(4198-4200)gGa>gAa p.G1400E NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1400 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) GATCCGATTTCCTTCAGGTGT 0.478000 85 37 0 0 0.003610 0 0 ANAPC4 29945 broad.mit.edu 37 4 25398357 25398357 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:25398357C>T ENST00000315368.3 + 15 1275 c.1133C>T c.(1132-1134)cCt>cTt p.P378L ANAPC4_ENST00000510092.1_Missense_Mutation_p.P378L NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 378 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|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|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) AAATATGAACCTCTTGGACTA 0.333000 14 34 0 0 0.001855 0 0 SLC22A12 116085 broad.mit.edu 37 11 64360946 64360946 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:64360946C>T ENST00000377574.1 + 3 1323 c.576C>T c.(574-576)ttC>ttT p.F192F SLC22A12_ENST00000473690.1_Intron|SLC22A12_ENST00000377567.2_Intron|SLC22A12_ENST00000336464.7_Intron|SLC22A12_ENST00000377572.1_Intron NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 192 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity p.F192F(1) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 CAGCTGCCTTCGCCCCTGCCT 0.612000 20 26 0 0 0.001523 0 0 MUC16 94025 broad.mit.edu 37 19 9070177 9070177 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:9070177C>T ENST00000397910.4 - 3 17472 c.17269G>A c.(17269-17271)Gat>Aat p.D5757N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5759 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 ACACTTGTATCCCCCATGGCG 0.468000 34 55 0 0 0.001951 0 0 SYNJ1 8867 broad.mit.edu 37 21 34030093 34030093 + Missense_Mutation SNP C C G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr21:34030093C>G ENST00000382499.2 - 19 2510 c.2511G>C c.(2509-2511)aaG>aaC p.K837N SYNJ1_ENST00000357345.3_Missense_Mutation_p.K798N|SYNJ1_ENST00000433931.2_Missense_Mutation_p.K837N|SYNJ1_ENST00000322229.7_Missense_Mutation_p.K798N|SYNJ1_ENST00000464778.1_5'UTR|SYNJ1_ENST00000382491.3_Missense_Mutation_p.K793N NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 798 Catalytic (Potential). inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 GGGTGCGGCACTTTTCACTGG 0.413000 9 39 0 0 0.004482 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250862 140250862 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:140250862C>T ENST00000398640.2 + 1 2174 c.2174C>T c.(2173-2175)aCg>aTg p.T725M PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTCGGCAACGCCCACTGAG 0.667000 10 8 0 0 0.006214 0 0 MEFV 4210 broad.mit.edu 37 16 3304686 3304686 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:3304686C>T ENST00000219596.1 - 2 421 c.382G>A c.(382-384)Gag>Aag p.E128K MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 128 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CCGTTCCCCTCGTTCCCCTCG 0.677000 12 18 0 0 0.001368 0 0 PCLO 27445 broad.mit.edu 37 7 82545811 82545811 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:82545811G>A ENST00000423517.2 - 7 11828 c.11491C>T c.(11491-11493)Cgt>Tgt p.R3831C PCLO_ENST00000437081.1_Missense_Mutation_p.R551C|PCLO_ENST00000333891.8_Missense_Mutation_p.R3831C NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3762 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.R3831C(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATGTAATCACGATCCTCAGCT 0.473000 24 39 0 0 0.003954 0 0 TDRD6 221400 broad.mit.edu 37 6 46660898 46660898 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:46660898C>T ENST00000544460.1 + 1 5287 c.5033C>T c.(5032-5034)cCt>cTt p.P1678L TDRD6_ENST00000316081.6_Missense_Mutation_p.P1678L NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1678 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TGTGATATCCCTTTAGCAATT 0.303000 11 9 0 0 0.001368 0 0 STEAP1 26872 broad.mit.edu 37 7 89791250 89791250 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:89791250C>T ENST00000297205.2 + 4 820 c.620C>T c.(619-621)gCc>gTc p.A207V STEAP2-AS1_ENST00000478318.2_RNA NM_012449.2 NP_036581.1 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the prostate 1 207 Ferric oxidoreductase. electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 14 all_hematologic(106;0.112) AAAGAAGATGCCTGGATTGAG 0.393000 10 33 0 0 0.003954 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 4 51 0 0 0.001168 0 0 SETD1A 9739 broad.mit.edu 37 16 30976009 30976009 + Missense_Mutation SNP G G T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:30976009G>T ENST00000262519.8 + 7 1632 c.946G>T c.(946-948)Gca>Tca p.A316S NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 316 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CCACTTCTCTGCATCTTCAGC 0.607000 23 42 5.49717e-05 7.14073e-05 0.003330 1 0 ANGPTL7 10218 broad.mit.edu 37 1 11254941 11254941 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:11254941C>T ENST00000376819.3 + 5 1141 c.902C>T c.(901-903)tCc>tTc p.S301F ANGPTL7_ENST00000476934.1_3'UTR|MTOR_ENST00000361445.4_Intron NM_021146.2 NP_066969.1 O43827 ANGL7_HUMAN angiopoietin-like 7 301 Fibrinogen C-terminal. response to oxidative stress|signal transduction extracellular region receptor binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487) TGCACAGACTCCAACCTCAAT 0.512000 10 24 0 0 0.000673 0 0 BCL2L12 83596 broad.mit.edu 37 19 50169132 50169132 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:50169132C>T ENST00000246785.3 + 1 310 c.52C>T c.(52-54)Cgg>Tgg p.R18W IRF3_ENST00000377139.3_5'UTR|BCL2L12_ENST00000246784.3_Missense_Mutation_p.R18W|BCL2L12_ENST00000441864.2_Missense_Mutation_p.R18W NM_001040668.1|NM_138639.1 NP_001035758.1|NP_619580.1 Q9HB09 B2L12_HUMAN BCL2-like 12 (proline rich) 18 apoptosis central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 8 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) TTTGGGTTTCCGGCCAGAGGC 0.577000 27 47 0 0 0.004656 0 0 ZNF180 7733 broad.mit.edu 37 19 44983505 44983505 + Missense_Mutation SNP G G A rs138817761 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:44983505G>A ENST00000221327.4 - 4 610 c.329C>T c.(328-330)tCt>tTt p.S110F ZNF180_ENST00000391956.4_Missense_Mutation_p.S85F|ZNF180_ENST00000587047.1_Intron|ZNF180_ENST00000586637.1_Silent_p.L119L|ZNF180_ENST00000592529.1_Missense_Mutation_p.S83F NM_013256.3 NP_037388.2 Q9UJW8 ZN180_HUMAN zinc finger protein 180 110 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1) 33 Prostate(69;0.0435) CTTACCCCAAGAGACTAGGTC 0.463000 20 48 0 0 0.002780 0 0 KIF26B 55083 broad.mit.edu 37 1 245530263 245530263 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:245530263C>T ENST00000407071.2 + 3 1033 c.593C>T c.(592-594)gCc>gTc p.A198V KIF26B_ENST00000479506.1_3'UTR NM_018012.3 NP_060482.2 Q2KJY2 KI26B_HUMAN kinesin family member 26B 198 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) AAGCAGGAGGCCATCCAGATG 0.627000 7 15 0 0 0.006214 0 0 PLCL1 5334 broad.mit.edu 37 2 198948626 198948626 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:198948626C>T ENST00000428675.1 + 2 783 c.385C>T c.(385-387)Cgc>Tgc p.R129C PLCL1_ENST00000437704.2_Missense_Mutation_p.R31C NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 129 Interaction with PPP1C.|PH. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) GCCAAATTCTCGCATTTACAA 0.453000 8 21 0 0 0.004482 0 0 ACSL1 2180 broad.mit.edu 37 4 185687120 185687120 + Silent SNP G G T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:185687120G>T ENST00000515030.1 - 14 1609 c.1284C>A c.(1282-1284)gtC>gtA p.V428V ACSL1_ENST00000513317.1_Silent_p.V428V|ACSL1_ENST00000454703.2_Silent_p.V257V|ACSL1_ENST00000281455.2_Silent_p.V428V|ACSL1_ENST00000504342.1_Silent_p.V428V|ACSL1_ENST00000437665.3_Silent_p.V257V|ACSL1_ENST00000507295.1_Silent_p.V394V P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 428 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CCATCAGCCGGACTCTTCCGC 0.652000 13 31 2.32078e-09 3.02903e-09 0.003163 1 0 MAP3K15 389840 broad.mit.edu 37 X 19380929 19380929 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:19380929C>T ENST00000338883.4 - 26 3605 c.3606G>A c.(3604-3606)caG>caA p.Q1202Q MAP3K15_ENST00000359173.3_Silent_p.Q637Q|MAP3K15_ENST00000469203.2_Silent_p.Q1034Q|MAP3K15_ENST00000518578.1_5'UTR NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 1202 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) GCAGAAGATTCTGGTACTCTC 0.328000 26 21 0 0 0.005443 0 0 NLRP8 126205 broad.mit.edu 37 19 56473470 56473470 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:56473470G>A ENST00000291971.3 + 4 2151 c.2080G>A c.(2080-2082)Gac>Aac p.D694N NLRP8_ENST00000590542.1_Missense_Mutation_p.D694N NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 694 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTGGTGGCAAGACTTATGCTC 0.483000 29 62 0 0 0.003755 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518910 113518910 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:113518910G>A ENST00000284601.3 - 4 2305 c.2237C>T c.(2236-2238)gCt>gTt p.A746V NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 746 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TTTTTCTCTAGCAGACATGCT 0.433000 17 48 0 0 0.004007 0 0 GABPB2 126626 broad.mit.edu 37 1 151090593 151090593 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:151090593C>T ENST00000368918.3 + 9 1539 c.1208C>T c.(1207-1209)aCc>aTc p.T403I GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368916.1_Missense_Mutation_p.T365I|GABPB2_ENST00000368917.1_Missense_Mutation_p.T365I NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 403 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) GTTGATTTCACCATGGTTGAA 0.522000 21 21 0 0 0.001882 0 0 AMIGO1 57463 broad.mit.edu 37 1 110050284 110050284 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:110050284G>A ENST00000369864.4 - 2 1600 c.1251C>T c.(1249-1251)tcC>tcT p.S417S AMIGO1_ENST00000369862.1_Silent_p.S417S Q86WK6 AMGO1_HUMAN adhesion molecule with Ig-like domain 1 417 axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) TACTAAGCATGGAAGAGCTGA 0.572000 13 20 0 0 0.001368 0 0 NSD1 64324 broad.mit.edu 37 5 176562207 176562207 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:176562207G>A ENST00000439151.2 + 2 148 c.103G>A c.(103-105)Ggt>Agt p.G35S NSD1_ENST00000354179.4_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.G35S NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 35 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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)|Epithelial(233;0.198) Kidney(146;0.235) TTTCGGTAATGGTCAATCCAA 0.443000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 32 24 0 0 0.002836 0 0 KALRN 8997 broad.mit.edu 37 3 124385441 124385441 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:124385441G>A ENST00000360013.3 + 46 6615 c.6488G>A c.(6487-6489)gGa>gAa p.G2163E KALRN_ENST00000459915.1_Missense_Mutation_p.G255E|KALRN_ENST00000291478.4_Missense_Mutation_p.G466E|KALRN_ENST00000393496.1_Missense_Mutation_p.G504E|KALRN_ENST00000428018.2_Missense_Mutation_p.G434E NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2162 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CTCAGGAAGGGATCCCTCACC 0.532000 21 56 0 0 0.004656 0 0 ICT1 3396 broad.mit.edu 37 17 73015830 73015830 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:73015830C>T ENST00000301585.5 + 3 272 c.259C>T c.(259-261)Cct>Tct p.P87S NM_001545.1 NP_001536.1 Q14197 ICT1_HUMAN immature colon carcinoma transcript 1 87 mitochondrial translational termination mitochondrial large ribosomal subunit aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1) 6 all_lung(278;0.226) GAGTAGTGGTCCTGGGGGGCA 0.438000 18 15 0 0 0.001882 0 0 MGP 4256 broad.mit.edu 37 12 15035186 15035186 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:15035186C>T ENST00000539261.1 - 4 333 c.199G>A c.(199-201)Gag>Aag p.E67K C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Missense_Mutation_p.E92K NM_000900.3 NP_000891.2 P08493 MGP_HUMAN matrix Gla protein 67 Gla. cartilage condensation|cell differentiation|ossification|regulation of bone mineralization proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent|structural constituent of bone p.E67K(1) large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 7 CTATTGAGCTCGTGGACAGGC 0.448000 94 70 0 0 0.003610 0 0 PRSS48 345062 broad.mit.edu 37 4 152204439 152204439 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:152204439G>A ENST00000455694.2 + 4 653 c.e4+1 PRSS48_ENST00000441586.2_Splice_Site|SH3D19_ENST00000604030.1_Intron NM_183375.2 NP_899231.2 Q7RTY5 PRS48_HUMAN protease, serine, 48 proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 TAGTTGCAAGGTCAGGGTTTG 0.408000 12 45 0 0 0.001855 0 0 IKBKAP 8518 broad.mit.edu 37 9 111673345 111673345 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:111673345C>T ENST00000374647.5 - 12 1612 c.1305G>A c.(1303-1305)aaG>aaA p.K435K IKBKAP_ENST00000537196.1_Silent_p.K86K NM_003640.3 NP_003631.2 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 435 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 GGTCATTACTCTTTTGAGGGT 0.443000 25 38 0 0 0.006320 0 0 STK32C 282974 broad.mit.edu 37 10 134021640 134021640 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:134021640C>T ENST00000368622.1 - 12 1365 c.984G>A c.(982-984)caG>caA p.Q328Q STK32C_ENST00000368625.4_Silent_p.Q458Q Q86UX6 ST32C_HUMAN serine/threonine kinase 32C 445 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1) 23 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) TCGGGAGGTCCTGGCTCCTCT 0.701000 12 20 0 0 0.002450 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216336 20216336 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:20216336G>A ENST00000331723.1 + 1 750 c.750G>A c.(748-750)ctG>ctA p.L250L NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 250 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) TGGTCAGCCTGATCTTCGTGC 0.458000 33 69 0 0 0.006999 0 0 PCED1B 91523 broad.mit.edu 37 12 47629420 47629420 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:47629420G>A ENST00000546455.1 + 4 1305 c.574G>A c.(574-576)Gaa>Aaa p.E192K PCED1B_ENST00000432328.1_Missense_Mutation_p.E192K PC-esterase domain containing 1B CCTGAAAAACGAAGTGGTCAA 0.582000 8 21 0 0 0.003080 0 0 DOCK2 1794 broad.mit.edu 37 5 169494601 169494601 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:169494601G>A ENST00000256935.8 + 45 4635 c.4555G>A c.(4555-4557)Gat>Aat p.D1519N DOCK2_ENST00000520908.1_Missense_Mutation_p.D1011N|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.D580N NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1519 DHR-2. 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) GTACCAGAGTGATGAGACCCT 0.493000 26 14 0 0 0.005443 0 0 LIPI 149998 broad.mit.edu 37 21 15561692 15561692 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr21:15561692G>A ENST00000344577.2 - 2 183 c.158C>T c.(157-159)tCc>tTc p.S53F LIPI_ENST00000536861.1_Missense_Mutation_p.S32F NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 32 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) ATCTCTGAAGGAATCCTTTAC 0.353000 10 24 0 0 0.000673 0 0 OR2M3 127062 broad.mit.edu 37 1 248366576 248366576 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:248366576G>A ENST00000456743.1 + 1 245 c.207G>A c.(205-207)atG>atA p.M69I NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 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;0.0245) TGTCCCTCATGGACCTCATGC 0.532000 66 156 0 0 0.003610 0 0 CDH23 64072 broad.mit.edu 37 10 73553142 73553142 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:73553142C>T ENST00000224721.6 + 47 6477 c.6472C>T c.(6472-6474)Cct>Tct p.P2158S NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2153 Cadherin 20. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GGGCACCGTTCCTCTCTCGGG 0.597000 17 39 0 0 0.006122 0 0 ATP2C2 9914 broad.mit.edu 37 16 84456094 84456094 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:84456094C>T ENST00000416219.2 + 8 812 c.723C>T c.(721-723)acC>acT p.T241T ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.T241T O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 241 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 ACCTCACCACCCTCAGCAACA 0.612000 22 46 0 0 0.002780 0 0 WDR75 84128 broad.mit.edu 37 2 190323591 190323591 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:190323591C>T ENST00000314761.4 + 7 742 c.682C>T c.(682-684)Cgt>Tgt p.R228C NM_032168.1 NP_115544.1 Q8IWA0 WDR75_HUMAN WD repeat domain 75 228 nucleolus breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) TGGCAAAATTCGTCTTTGGTC 0.418000 19 40 0 0 0.002299 0 0 MYOM1 8736 broad.mit.edu 37 18 3102527 3102527 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:3102527C>T ENST00000400569.3 - 23 3853 c.3520G>A c.(3520-3522)Gat>Aat p.D1174N MYOM1_ENST00000261606.7_Missense_Mutation_p.D1078N|MYOM1_ENST00000356443.4_Missense_Mutation_p.D1174N P52179 MYOM1_HUMAN myomesin 1 1174 Ig-like C2-type 3. striated muscle myosin thick filament structural constituent of muscle p.D1174Y(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GATACATAATCTTTGGACCAG 0.418000 51 94 0 0 0.003610 0 0 GTF3C5 9328 broad.mit.edu 37 9 135919197 135919197 + Silent SNP C C T rs151291681 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:135919197C>T ENST00000372097.5 + 3 779 c.456C>T c.(454-456)ctC>ctT p.L152L GTF3C5_ENST00000342018.8_Silent_p.L152L|GTF3C5_ENST00000372099.6_Silent_p.L143L|GTF3C5_ENST00000372108.5_Silent_p.L152L|GTF3C5_ENST00000372095.5_Silent_p.L27L|GTF3C5_ENST00000485692.1_3'UTR NM_012087.3 NP_036219.2 Q9Y5Q8 TF3C5_HUMAN general transcription factor IIIC, polypeptide 5, 63kDa 152 transcription factor TFIIIC complex DNA binding|protein binding endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05) TGCTCATGCTCCGGCCCGAGA 0.587000 18 43 0 0 0.001216 0 0 TRAK1 22906 broad.mit.edu 37 3 42265111 42265111 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:42265111G>A ENST00000327628.5 + 16 3144 c.2744G>A c.(2743-2745)cGg>cAg p.R915Q TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.R857Q NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 915 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 AGTGGCATCCGGCGGAATCGC 0.597000 21 21 0 0 0.001216 0 0 UGT8 7368 broad.mit.edu 37 4 115544111 115544111 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:115544111C>T ENST00000310836.6 + 2 597 c.75C>T c.(73-75)atC>atT p.I25I UGT8_ENST00000394511.3_Silent_p.I25I NM_001128174.1 NP_001121646.1 Q16880 CGT_HUMAN UDP glycosyltransferase 8 25 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) AAATCATCATCGTGCCGCCAA 0.453000 8 21 0 0 0.004482 0 0 HNF1A 6927 broad.mit.edu 37 12 121431395 121431395 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:121431395G>A ENST00000257555.6 + 3 825 c.599G>A c.(598-600)cGg>cAg p.R200Q HNF1A_ENST00000400024.2_Missense_Mutation_p.R200Q|HNF1A_ENST00000541395.1_Missense_Mutation_p.R200Q|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000402929.1_Missense_Mutation_p.R200Q|HNF1A_ENST00000543427.1_Missense_Mutation_p.R83Q|HNF1A_ENST00000544413.1_Missense_Mutation_p.R200Q P20823 HNF1A_HUMAN HNF1 homeobox A 200 R -> W (in MODY3; expected to interfere with nuclear localization). glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AAGAAGGGGCGGAGGAACCGT 0.592000 Hepatic Adenoma, Familial Clustering of 103 214 0 0 0.003610 0 0 CTCF 10664 broad.mit.edu 37 16 67650756 67650756 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:67650756C>T ENST00000264010.4 + 5 1505 c.1061C>T c.(1060-1062)tCc>tTc p.S354F CTCF_ENST00000401394.1_Missense_Mutation_p.S26F NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 354 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding p.S354F(1) breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) TTCAAGTGTTCCATGTGCGAT 0.453000 57 106 0 0 0.003610 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43919774 43919774 + Missense_Mutation SNP A A C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:43919774A>C ENST00000282406.4 + 4 418 c.308A>C c.(307-309)cAa>cCa p.Q103P NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 103 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GACGTCATTCAAAACTTGGAA 0.338000 74 146 0 0 0.003610 0 0 GEM 2669 broad.mit.edu 37 8 95264276 95264276 + Nonsense_Mutation SNP A A C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:95264276A>C ENST00000297596.2 - 4 848 c.584T>G c.(583-585)tTa>tGa p.L195* GEM_ENST00000396194.2_Nonsense_Mutation_p.L195* NM_005261.3 NP_005252.1 P55040 GEM_HUMAN GTP binding protein overexpressed in skeletal muscle 195 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) GCACCGCACTAAGTCACTTTT 0.517000 32 16 0 0 0.006999 0 0 CD1B 910 broad.mit.edu 37 1 158299295 158299295 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:158299295C>T ENST00000368168.3 - 4 858 c.751G>A c.(751-753)Ggg>Agg p.G251R NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 251 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding p.G251W(1) breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) AGGATGTCCCCTAGCTGAGTG 0.607000 21 42 0 0 0.002780 0 0 ZNF792 126375 broad.mit.edu 37 19 35449162 35449162 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:35449162G>A ENST00000404801.1 - 4 1983 c.1597C>T c.(1597-1599)Cct>Tct p.P533S ZNF792_ENST00000605484.1_Missense_Mutation_p.P466S NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CACTCATAAGGCCGCTCGCCG 0.522000 12 12 0 0 0.000978 0 0 SYT12 91683 broad.mit.edu 37 11 66813298 66813298 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:66813298C>T ENST00000393946.2 + 10 2204 c.1042C>T c.(1042-1044)Ccg>Tcg p.P348S SYT12_ENST00000527043.1_Missense_Mutation_p.P348S|SYT12_ENST00000525457.1_Missense_Mutation_p.P348S Q8IV01 SYT12_HUMAN synaptotagmin XII 348 C2 2. cell junction|integral to membrane|synaptic vesicle membrane NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 20 TGACCCCAACCCGGTGTTCAA 0.612000 18 20 0 0 0.006122 0 0 CLTCL1 8218 broad.mit.edu 37 22 19222165 19222165 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:19222165G>A ENST00000263200.10 - 7 1106 c.1034C>T c.(1033-1035)cCa>cTa p.P345L CLTCL1_ENST00000427926.1_Missense_Mutation_p.P345L|CLTCL1_ENST00000353891.5_Missense_Mutation_p.P345L NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 345 Globular terminal domain. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) ACCAAGGTCTGGATTCTGAAG 0.478000 T ? ALCL 37 73 0 0 0.006999 0 0 ACSM2B 348158 broad.mit.edu 37 16 20548594 20548594 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:20548594C>T ENST00000329697.6 - 14 1888 c.1720G>A c.(1720-1722)Gcc>Acc p.A574T ACSM2B_ENST00000567001.1_Missense_Mutation_p.A574T|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A574T|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A495T NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 574 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TGCGCACGGGCTTTTCCGGAC 0.463000 64 134 0 0 0.003610 0 0 SLC6A7 6534 broad.mit.edu 37 5 149574312 149574312 + Missense_Mutation SNP A A C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:149574312A>C ENST00000230671.2 + 2 426 c.55A>C c.(55-57)Atg>Ctg p.M19L SLC6A7_ENST00000524041.1_Missense_Mutation_p.M19L NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 19 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) AGACCTGCTGATGACCCCCAG 0.582000 6 4 0 0 0.001168 0 0 KHDRBS1 10657 broad.mit.edu 37 1 32498788 32498788 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:32498788G>A ENST00000327300.7 + 4 791 c.e4-1 KHDRBS1_ENST00000492989.1_Splice_Site|KHDRBS1_ENST00000307714.8_Splice_Site NM_006559.1 NP_006550.1 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal transduction associated 1 cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 14 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TTTTTCCATAGGAGGAAGAGC 0.458000 16 21 0 0 0.003163 0 0 FLG 2312 broad.mit.edu 37 1 152281609 152281609 + Missense_Mutation SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:152281609A>G ENST00000368799.1 - 3 5788 c.5753T>C c.(5752-5754)gTt>gCt p.V1918A FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1918 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCCTGGCTAACACTGGATCC 0.567000 Ichthyosis 55 125 0 0 0.003610 0 0 TRPM4 54795 broad.mit.edu 37 19 49671637 49671637 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:49671637C>T ENST00000252826.5 + 5 695 c.569C>T c.(568-570)cCc>cTc p.P190L TRPM4_ENST00000427978.2_Missense_Mutation_p.P190L|TRPM4_ENST00000355712.5_Intron NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 190 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GGTGTGGCCCCCTGGGGTGTG 0.647000 17 41 0 0 0.004990 0 0 PKD1L1 168507 broad.mit.edu 37 7 47969013 47969013 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:47969013G>A ENST00000289672.2 - 7 898 c.848C>T c.(847-849)gCt>gTt p.A283V NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 283 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 AGAATTTCGAGCTAGGATGGC 0.532000 22 43 0 0 0.002780 0 0 SCARF2 91179 broad.mit.edu 37 22 20780370 20780370 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:20780370G>A ENST00000405555.3 - 11 1963 c.1893C>T c.(1891-1893)gcC>gcT p.A631A SCARF2_ENST00000266214.5_Silent_p.A636A NM_182895.2 NP_878315.1 Q96GP6 SREC2_HUMAN scavenger receptor class F, member 2 631 ARVARREARPARA -> PTTTWITHSTAAS (in Ref. 2; AAH00584). cell adhesion integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 10 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) gggccggccgggccTCGCGTC 0.766000 5 7 0 0 0.000602 0 0 NEK10 152110 broad.mit.edu 37 3 27326370 27326370 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:27326370G>A ENST00000429845.2 - 22 2234 c.1872C>T c.(1870-1872)caC>caT p.H624H NEK10_ENST00000341435.5_Silent_p.H624H|NEK10_ENST00000357467.2_Silent_p.H21H Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 624 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CAGTAAAATGGTGATGTTTTT 0.323000 20 12 0 0 0.001523 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103465993 103465993 + Nonsense_Mutation SNP C C A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:103465993C>A ENST00000361246.2 - 5 793 c.505G>T c.(505-507)Gaa>Taa p.E169* NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 169 Protein kinase. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) AGCTTGTCTTCAAATTTGCTG 0.453000 18 13 6.49762e-13 8.50953e-13 0.006122 1 0 TRIM55 84675 broad.mit.edu 37 8 67039668 67039668 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:67039668C>T ENST00000315962.4 + 1 538 c.165C>T c.(163-165)ttC>ttT p.F55F TRIM55_ENST00000353317.5_Silent_p.F55F|TRIM55_ENST00000350034.4_Silent_p.F55F|TRIM55_ENST00000276573.7_Silent_p.F55F NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 55 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) GTGATATTTTCCAGGTAGGTT 0.438000 42 211 0 0 0.003214 0 0 SCN11A 11280 broad.mit.edu 37 3 38927620 38927620 + Missense_Mutation SNP C C T rs34292484 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:38927620C>T ENST00000450244.1 - 16 3143 c.2945G>A c.(2944-2946)cGa>cAa p.R982Q SCN11A_ENST00000444237.2_Missense_Mutation_p.R982Q|SCN11A_ENST00000456224.3_Intron|SCN11A_ENST00000302328.3_Missense_Mutation_p.R982Q Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 982 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AATTACCTTTCGGGGATCCTG 0.448000 16 37 0 0 0.001216 0 0 SLC4A5 57835 broad.mit.edu 37 2 74479337 74479337 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:74479337C>T ENST00000394019.2 - 16 1844 c.1447G>A c.(1447-1449)Gaa>Aaa p.E483K SLC4A5_ENST00000346834.4_Missense_Mutation_p.E483K|SLC4A5_ENST00000358683.4_Missense_Mutation_p.E419K|SLC4A5_ENST00000423644.1_Missense_Mutation_p.E483K|SLC4A5_ENST00000357822.5_Missense_Mutation_p.E483K|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.E483K|SLC4A5_ENST00000377634.4_Missense_Mutation_p.E483K|SLC4A5_ENST00000359484.4_Missense_Mutation_p.E419K|SLC4A5_ENST00000483195.1_5'UTR NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 483 Gly-rich. apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TCCCCGATTTCATGCATGGCT 0.632000 31 15 0 0 0.002836 0 0 NLRP13 126204 broad.mit.edu 37 19 56423937 56423937 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:56423937C>T ENST00000588751.1 - 5 1270 c.1246G>A c.(1246-1248)Gaa>Aaa p.E416K NLRP13_ENST00000342929.3_Missense_Mutation_p.E416K Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 416 NACHT. 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) AAGAGAGTTTCGTTTTTTCTT 0.463000 18 30 0 0 0.007413 0 0 CYP7B1 9420 broad.mit.edu 37 8 65527784 65527784 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:65527784G>A ENST00000310193.3 - 4 1029 c.856C>T c.(856-858)Cat>Tat p.H286Y CYP7B1_ENST00000523954.1_5'UTR NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 286 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) AAGCCTAAATGATGTGCTGGG 0.423000 6 30 0 0 0.003080 0 0 SALL4 57167 broad.mit.edu 37 20 50407835 50407835 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:50407835G>A ENST00000217086.4 - 2 1298 c.1187C>T c.(1186-1188)tCc>tTc p.S396F SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 396 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GATCTGCAAGGAGCTATCAGT 0.547000 15 31 0 0 0.004007 0 0 ZBED4 9889 broad.mit.edu 37 22 50278162 50278162 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:50278162C>T ENST00000216268.4 + 2 1329 c.852C>T c.(850-852)tcC>tcT p.S284S NM_014838.2 NP_055653.2 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 284 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) CCTCTGGGTCCAGGAGAAGGT 0.562000 18 50 0 0 0.007413 0 0 POFUT1 23509 broad.mit.edu 37 20 30816216 30816216 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:30816216C>T ENST00000375749.3 + 5 755 c.693C>T c.(691-693)gtC>gtT p.V231V POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000539210.1_Silent_p.V20V NM_015352.1 NP_056167.1 Q9H488 OFUT1_HUMAN protein O-fucosyltransferase 1 231 fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCCACCTTGTCCGGCCCTATG 0.552000 11 22 0 0 0.000978 0 0 HERC5 51191 broad.mit.edu 37 4 89390350 89390350 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:89390350G>A ENST00000264350.3 + 9 1330 c.1177G>A c.(1177-1179)Gaa>Aaa p.E393K HERC5_ENST00000508159.1_Missense_Mutation_p.E31K NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 393 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) TACTCTGAATGAAGGGACTGT 0.398000 6 13 0 0 0.001984 0 0 CLASP1 23332 broad.mit.edu 37 2 122122776 122122776 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:122122776G>A ENST00000263710.4 - 36 4360 c.3971C>T c.(3970-3972)gCc>gTc p.A1324V CLASP1_ENST00000541859.1_Missense_Mutation_p.A1041V|CLASP1_ENST00000545861.1_Missense_Mutation_p.A1031V|CLASP1_ENST00000455322.2_Missense_Mutation_p.A1280V|CLASP1_ENST00000397587.3_Missense_Mutation_p.A1264V|CLASP1_ENST00000409078.3_Missense_Mutation_p.A1257V|CLASP1_ENST00000541377.1_Missense_Mutation_p.A1263V NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 1324 Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores. axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) CTCCAGCAGGGCTCCCTTCCG 0.572000 6 9 0 0 0.001984 0 0 CLVS2 134829 broad.mit.edu 37 6 123319199 123319199 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:123319199G>A ENST00000275162.4 + 2 1612 c.277G>A c.(277-279)Gac>Aac p.D93N CLVS2_ENST00000368438.1_Intron NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 93 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 TAAGGCCACCGACCCTGGCAT 0.542000 21 23 0 0 0.002780 0 0 HMGCL 3155 broad.mit.edu 37 1 24147083 24147083 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:24147083C>T ENST00000374490.3 - 2 104 c.60_splice c.e2-1 p.V21_splice HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000436439.2_Splice_Site_p.V21_splice|HMGCL_ENST00000374483.4_5'UTR NM_000191.2 NP_000182.2 P35914 HMGCL_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase 21 acetoacetic acid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA lyase activity|metal ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188) GAGGTGCTGACCTTTGGTTTA 0.403000 23 54 0 0 0.003954 0 0 SELO 83642 broad.mit.edu 37 22 50644880 50644880 + Missense_Mutation SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:50644880T>C ENST00000380903.2 + 2 747 c.689T>C c.(688-690)gTg>gCg p.V230A RP3-402G11.5_ENST00000492092.1_3'UTR NM_031454.1 NP_113642.1 GTGCGCGACGTGTTCTATGAT 0.567000 OREG0026675 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 9 0 0 0.003080 0 0 ZNF99 7652 broad.mit.edu 37 19 22941130 22941130 + Missense_Mutation SNP A A T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:22941130A>T ENST00000397104.3 - 5 1307 c.1308T>A c.(1306-1308)caT>caA p.H436Q ZNF99_ENST00000596209.1_Missense_Mutation_p.H527Q zinc finger protein 99 p.H436Q(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GAATTATCTTATGTTTTCTAA 0.333000 7 7 0 0 0.006214 0 0 LRP1B 53353 broad.mit.edu 37 2 141108405 141108405 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:141108405G>A ENST00000389484.3 - 77 12824 c.11853C>T c.(11851-11853)atC>atT p.I3951I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3951 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) CTCTGCCATGGATCCTTTTGT 0.343000 TSP Lung(27;0.18) 9 28 0 0 0.004482 0 0 MCM5 4174 broad.mit.edu 37 22 35815966 35815966 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:35815966G>A ENST00000216122.4 + 14 1947 c.1793G>A c.(1792-1794)aGg>aAg p.R598K MCM5_ENST00000382011.5_Missense_Mutation_p.R555K NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 598 ARQHERDSDRR -> PVSTRGTVTA (in Ref. 3; BAA12176). cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 CAGCACGAGAGGGACAGTGAC 0.642000 22 50 0 0 0.001882 0 0 PAPPA 5069 broad.mit.edu 37 9 118982379 118982379 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:118982379C>T ENST00000328252.3 + 5 2451 c.2082C>T c.(2080-2082)ttC>ttT p.F694F PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 694 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 TGGAGTGGTTCCCACCTATAG 0.557000 24 59 0 0 0.003954 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105912848 105912848 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:105912848C>T ENST00000393359.2 - 4 1429 c.1003G>A c.(1003-1005)Gga>Aga p.G335R TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.G335R Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 335 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 CTCCGGGCTCCTTTTGCTAAA 0.388000 20 64 0 0 0.001882 0 0 ABCC2 1244 broad.mit.edu 37 10 101578582 101578582 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:101578582C>T ENST00000370449.4 + 18 2420 c.2307C>T c.(2305-2307)atC>atT p.I769I NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 769 ABC transporter 1. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) AGCAGCGGATCAGCCTGGCCA 0.413000 14 29 0 0 0.004007 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74834741 74834741 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:74834741C>T ENST00000370895.1 + 16 1695 c.1660C>T c.(1660-1662)Cct>Tct p.P554S RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000370891.2_Missense_Mutation_p.P554S|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.P554S|TNNI3K_ENST00000326637.3_Missense_Mutation_p.P453S|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.P554S Q59H18 TNI3K_HUMAN 453 Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding AGCTGGATTGCCTTCACATTT 0.353000 7 23 0 0 0.003080 0 0 ZNF750 79755 broad.mit.edu 37 17 80788671 80788671 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:80788671C>T ENST00000269394.3 - 3 2352 c.1519G>A c.(1519-1521)Gac>Aac p.D507N TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.D108N|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 507 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) CCGGAGCTGTCGTCCGGACTG 0.612000 14 26 0 0 0.004007 0 0 CHST12 55501 broad.mit.edu 37 7 2472882 2472882 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:2472882C>T ENST00000258711.6 + 2 743 c.608C>T c.(607-609)cCg>cTg p.P203L NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 203 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) CTGCGCATCCCGCGCGAGCAC 0.662000 11 10 0 0 0.000673 0 0 MDC1 9656 broad.mit.edu 37 6 30680248 30680248 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:30680248G>A ENST00000376406.3 - 5 2118 c.1471C>T c.(1471-1473)Cct>Tct p.P491S MDC1_ENST00000376405.2_Missense_Mutation_p.P491S|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 491 Required for nuclear localization (NLS1). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 TCCCCAAAAGGAGGTTGGTCC 0.502000 Other conserved DNA damage response genes 42 39 0 0 0.003214 0 0 NIPBL 25836 broad.mit.edu 37 5 36976077 36976077 + Silent SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:36976077T>C ENST00000282516.8 + 9 1567 c.1068T>C c.(1066-1068)acT>acC p.T356T NIPBL_ENST00000448238.2_Silent_p.T356T|NIPBL_ENST00000504430.1_3'UTR NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 356 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AGGACTCTACTAAACTTACAT 0.363000 16 17 0 0 0.006122 0 0 CCDC117 150275 broad.mit.edu 37 22 29182126 29182126 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:29182126C>T ENST00000249064.4 + 5 828 c.652C>T c.(652-654)Ctt>Ttt p.L218F CCDC117_ENST00000443309.2_Missense_Mutation_p.L86F|CCDC117_ENST00000421503.2_Missense_Mutation_p.L143F|CCDC117_ENST00000448492.2_Missense_Mutation_p.L200F NM_173510.2 NP_775781.1 Q8IWD4 CC117_HUMAN coiled-coil domain containing 117 218 breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1) 7 CCCTGAACTCCTTTCTGATAA 0.433000 24 40 0 0 0.004656 0 0 PIK3R1 5295 broad.mit.edu 37 5 67589197 67589197 + Silent SNP A A T rs149905863 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:67589197A>T ENST00000521381.1 + 10 1801 c.1185A>T c.(1183-1185)ccA>ccT p.P395P PIK3R1_ENST00000396611.1_Silent_p.P395P|PIK3R1_ENST00000523872.1_Silent_p.P32P|PIK3R1_ENST00000336483.5_Silent_p.P125P|PIK3R1_ENST00000274335.5_Silent_p.P395P|PIK3R1_ENST00000521657.1_Silent_p.P395P|PIK3R1_ENST00000320694.8_Silent_p.P95P NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 395 SH2 1. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) TCTCTGACCCATTAACCTTCA 0.318000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 10 8 0 0 0.000673 0 0 NAGLU 4669 broad.mit.edu 37 17 40690485 40690485 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:40690485C>T ENST00000225927.2 + 3 761 c.660C>T c.(658-660)atC>atT p.I220I RP11-400F19.8_ENST00000585572.1_RNA NM_000263.3 NP_000254.2 P54802 ANAG_HUMAN N-acetylglucosaminidase, alpha 220 lysosome alpha-N-acetylglucosaminidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 12 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) CCTGGCACATCAAGCAGCTTT 0.587000 20 52 0 0 0.002780 0 0 ZNF844 284391 broad.mit.edu 37 19 12187067 12187067 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:12187067C>T ENST00000439326.3 + 4 1307 c.1132C>T c.(1132-1134)Cgt>Tgt p.R378C ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 378 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 TCTCCCAGTTCGTTTTGAAGA 0.373000 3 4 0 0 0.004672 0 0 NARG2 79664 broad.mit.edu 37 15 60758807 60758807 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:60758807G>A ENST00000261520.4 - 5 748 c.514C>T c.(514-516)Cgt>Tgt p.R172C NARG2_ENST00000439632.1_Missense_Mutation_p.R35C|NARG2_ENST00000561114.1_Missense_Mutation_p.R172C NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 172 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 GTGAAGAGACGGGCATCATCA 0.368000 18 35 0 0 0.001882 0 0 CYP4A11 1579 broad.mit.edu 37 1 47400739 47400739 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:47400739G>A ENST00000310638.4 - 6 754 c.723C>T c.(721-723)acC>acT p.T241T CYP4A11_ENST00000371904.4_Silent_p.T241T|CYP4A11_ENST00000371905.1_Silent_p.T241T|CYP4A11_ENST00000457840.2_Intron|CYP4A11_ENST00000475477.1_Intron NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 241 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) GGCTGTAGATGGTGTCATTCT 0.537000 26 60 0 0 0.003954 0 0 NAA11 84779 broad.mit.edu 37 4 80246948 80246948 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:80246948C>T ENST00000286794.4 - 1 256 c.84G>A c.(82-84)atG>atA p.M28I NM_032693.2 NP_116082.1 Q9BSU3 NAA11_HUMAN N(alpha)-acetyltransferase 11, NatA catalytic subunit 28 Interaction with NAA15 (By similarity).|N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2) 23 AATAGTATTTCATCTGGTAGT 0.493000 19 31 0 0 0.001523 0 0 POU6F2 11281 broad.mit.edu 37 7 39379484 39379484 + Missense_Mutation SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:39379484A>G ENST00000518318.2 + 5 797 c.755A>G c.(754-756)cAa>cGa p.Q252R POU6F2_ENST00000559001.1_Missense_Mutation_p.Q244R|POU6F2_ENST00000403058.1_Missense_Mutation_p.Q252R|POU6F2_ENST00000517348.1_3'UTR P78424 PO6F2_HUMAN POU class 6 homeobox 2 252 Gln-rich.|Pro-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 cagcagcaccaaccccactcc 0.657000 6 11 0 0 0.001984 0 0 PMFBP1 83449 broad.mit.edu 37 16 72174409 72174409 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:72174409C>T ENST00000537465.1 - 6 867 c.709G>A c.(709-711)Gag>Aag p.E237K PMFBP1_ENST00000355636.6_Missense_Mutation_p.E92K|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E237K Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 237 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) TTCTGAGTCTCCTGATGCTCT 0.428000 50 133 0 0 0.003610 0 0 AOC1 26 broad.mit.edu 37 7 150554030 150554030 + Missense_Mutation SNP G G C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:150554030G>C ENST00000493429.1 + 4 1056 c.472G>C c.(472-474)Gcc>Ccc p.A158P AOC1_ENST00000360937.4_Missense_Mutation_p.A158P|AOC1_ENST00000467291.1_Missense_Mutation_p.A158P|AOC1_ENST00000416793.2_Missense_Mutation_p.A158P amine oxidase, copper containing 1 CCTGCAGGAAGCCACCAAGCC 0.612000 16 28 0 0 0.004007 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72468482 72468482 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:72468482G>A ENST00000373208.1 + 4 818 c.818G>A c.(817-819)cGc>cAc p.R273H ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R273H NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 273 Peptidase M12B. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 TCGGTGGTTCGCTTCCATGGC 0.617000 30 41 0 0 0.004289 0 0 HACL1 26061 broad.mit.edu 37 3 15604947 15604947 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:15604947G>A ENST00000321169.5 - 16 1989 c.1622C>T c.(1621-1623)tCc>tTc p.S541F HACL1_ENST00000435217.2_Missense_Mutation_p.S300F|HACL1_ENST00000451445.2_Missense_Mutation_p.S459F|HACL1_ENST00000456194.2_Missense_Mutation_p.S514F|HACL1_ENST00000457447.2_Missense_Mutation_p.S481F NM_012260.2 NP_036392.2 Q9UJ83 HACL1_HUMAN 2-hydroxyacyl-CoA lyase 1 541 fatty acid alpha-oxidation peroxisomal matrix carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 16 CTGCCTCAGGGATTTTTGGAG 0.443000 13 11 0 0 0.001855 0 0 GPR162 27239 broad.mit.edu 37 12 6933459 6933459 + Missense_Mutation SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:6933459A>G ENST00000311268.3 + 2 1182 c.395A>G c.(394-396)aAg>aGg p.K132R GPR162_ENST00000428545.2_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000382315.3_Intron NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 132 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 AACGCCAAGAAGCAGGCACTG 0.622000 12 9 0 0 0.001368 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200817237 200817237 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:200817237G>A ENST00000358823.2 + 11 1610 c.1340G>A c.(1339-1341)gGa>gAa p.G447E CAMSAP2_ENST00000236925.4_Missense_Mutation_p.G458E|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.G431E NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 458 cytoplasm|microtubule protein binding CCAAACCGAGGAATCACTCGT 0.333000 19 43 0 0 0.006122 0 0 PDE4DIP 9659 broad.mit.edu 37 1 145015920 145015920 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:145015920G>A ENST00000369359.4 - 3 419 c.381C>T c.(379-381)tcC>tcT p.S127S PDE4DIP_ENST00000369348.3_Silent_p.S127S|PDE4DIP_ENST00000313382.9_Silent_p.S56S|PDE4DIP_ENST00000478649.2_Silent_p.S56S|PDE4DIP_ENST00000493130.2_Silent_p.S56S|PDE4DIP_ENST00000530740.1_Silent_p.S127S Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATGCTCTCAAGGAATATGTCT 0.453000 T PDGFRB MPD 42 499 0 0 0.002222 0 0 CALB1 793 broad.mit.edu 37 8 91072457 91072457 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:91072457C>T ENST00000265431.3 - 11 911 c.730G>A c.(730-732)Gga>Aga p.G244R CALB1_ENST00000518457.1_Missense_Mutation_p.G187R NM_004929.2 NP_004920.1 P05937 CALB1_HUMAN calbindin 1, 28kDa 244 nucleus calcium ion binding|vitamin D binding breast(1)|kidney(1)|lung(8)|pancreas(1) 11 BRCA - Breast invasive adenocarcinoma(11;0.00953) AGCTTCCCTCCATCCGACAAA 0.393000 14 39 0 0 0.003163 0 0 ZMYM6 9204 broad.mit.edu 37 1 35477576 35477576 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:35477576G>A ENST00000357182.4 - 8 1204 c.977C>T c.(976-978)aCc>aTc p.T326I ZMYM6_ENST00000487874.1_Missense_Mutation_p.T326I|ZMYM6_ENST00000373340.2_Missense_Mutation_p.T326I|ZMYM6_ENST00000493328.1_5'UTR NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 326 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) GATTGCTGAGGTTTTACAACT 0.373000 7 31 0 0 0.003080 0 0 KLHL5 51088 broad.mit.edu 37 4 39083653 39083653 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:39083653G>A ENST00000261425.3 + 5 926 c.774G>A c.(772-774)caG>caA p.Q258Q KLHL5_ENST00000261426.5_Silent_p.Q243Q|KLHL5_ENST00000359687.2_Silent_p.Q304Q|KLHL5_ENST00000508137.2_Silent_p.Q117Q|KLHL5_ENST00000381930.3_Silent_p.Q304Q|KLHL5_ENST00000504108.1_Silent_p.Q304Q NM_001007075.2 NP_001007076.1 Q96PQ7 KLHL5_HUMAN kelch-like family member 5 304 BTB. cytoplasm|cytoskeleton actin binding endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 AGCTTTCACAGGTTGTAGAAG 0.383000 24 44 0 0 0.002299 0 0 AGBL5 60509 broad.mit.edu 37 2 27278857 27278857 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:27278857C>T ENST00000360131.4 + 7 1375 c.1216C>T c.(1216-1218)Cca>Tca p.P406S AGBL5_ENST00000323064.8_Missense_Mutation_p.P406S NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 406 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGGATTATGCCACAACAGTC 0.522000 25 83 0 0 0.005443 0 0 SLC5A2 6524 broad.mit.edu 37 16 31501826 31501826 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:31501826G>A ENST00000330498.3 + 14 2008 c.1989G>A c.(1987-1989)gtG>gtA p.V663V C16orf58_ENST00000570164.1_3'UTR|C16orf58_ENST00000567994.1_3'UTR|SLC5A2_ENST00000564197.1_Intron|C16orf58_ENST00000327237.2_3'UTR NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 663 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 TGATGGCAGTGGCCGTGTTCC 0.637000 5 13 0 0 0.000602 0 0 TRRAP 8295 broad.mit.edu 37 7 98592251 98592251 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:98592251C>T ENST00000359863.4 + 66 10256 c.10047C>T c.(10045-10047)tcC>tcT p.S3349S TRRAP_ENST00000355540.3_Silent_p.S3320S|TRRAP_ENST00000446306.3_Silent_p.S3338S NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3349 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AATGTTACTCCGTGGCGTTTG 0.537000 42 88 0 0 0.002852 0 0 SEPHS2 22928 broad.mit.edu 37 16 30455791 30455791 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:30455791G>A ENST00000478753.2 - 1 1711 c.1258C>T c.(1258-1260)Ccg>Tcg p.P420S SEPHS2_ENST00000542752.1_Missense_Mutation_p.P363S|SEPHS2_ENST00000500504.2_Missense_Mutation_p.P420S Q99611 SPS2_HUMAN selenophosphate synthetase 2 420 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 10 ATAACTCGCGGCTTGTCAATG 0.522000 29 28 0 0 0.001512 0 0 C1orf173 127254 broad.mit.edu 37 1 75101972 75101972 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:75101972G>A ENST00000326665.5 - 6 813 c.595C>T c.(595-597)Ccc>Tcc p.P199S NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 199 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 ACCCCAATGGGAAACAGAGCT 0.318000 29 42 0 0 0.005443 0 0 UNC13A 23025 broad.mit.edu 37 19 17783268 17783268 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:17783268C>T ENST00000428389.2 - 5 452 c.453G>A c.(451-453)gaG>gaA p.E151E UNC13A_ENST00000552293.1_Silent_p.E63E|UNC13A_ENST00000551649.1_Silent_p.E63E|UNC13A_ENST00000252773.7_Silent_p.E63E|UNC13A_ENST00000519716.2_Silent_p.E63E|UNC13A_ENST00000550896.1_Silent_p.E63E Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 63 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TATTCCACACCTCCACCGTCA 0.597000 14 8 0 0 0.004007 0 0 KIF9 64147 broad.mit.edu 37 3 47298994 47298994 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:47298994G>A ENST00000335044.2 - 10 1395 c.1038C>T c.(1036-1038)atC>atT p.I346I KIF9_ENST00000352910.4_Silent_p.I253I|KIF9_ENST00000452770.2_Silent_p.I346I|KIF9_ENST00000444589.2_Silent_p.I346I|KIF9_ENST00000265529.3_Silent_p.I346I|KIF9_ENST00000487440.1_5'UTR NM_001134878.1|NM_182902.3 NP_001128350.1|NP_878905.2 Q9HAQ2 KIF9_HUMAN kinesin family member 9 346 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) ACTTTTCATTGATGGCAGGCT 0.507000 30 48 0 0 0.006999 0 0 ARID5A 10865 broad.mit.edu 37 2 97215195 97215195 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:97215195G>A ENST00000454558.2 + 3 1231 c.55_splice c.e3+1 p.Q18_splice ARID5A_ENST00000357485.3_Splice_Site_p.Q86_splice Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 86 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 GCTTCAAGCAGAGTGCGTCCC 0.677000 14 40 0 0 0.004007 0 0 CES1 1066 broad.mit.edu 37 16 55857493 55857493 + Nonsense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:55857493G>A ENST00000422046.2 - 4 786 c.505C>T c.(505-507)Caa>Taa p.Q169* CES1_ENST00000360526.3_Nonsense_Mutation_p.Q170*|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000361503.4_Nonsense_Mutation_p.Q169* P23141 EST1_HUMAN carboxylesterase 1 169 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity p.Q170*(1) all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) AGGCGATATTGAATGGTCACC 0.572000 9 60 0 0 0.001368 0 0 DBX2 440097 broad.mit.edu 37 12 45410375 45410375 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:45410375C>T ENST00000332700.6 - 4 885 c.714G>A c.(712-714)agG>agA p.R238R NM_001004329.2 NP_001004329.2 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 238 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) GCCATTTCATCCTCCTGTTCT 0.388000 17 54 0 0 0.007413 0 0 CDH20 28316 broad.mit.edu 37 18 59166487 59166487 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:59166487C>T ENST00000262717.4 + 3 713 c.315C>T c.(313-315)atC>atT p.I105I CDH20_ENST00000538374.1_Silent_p.I105I|CDH20_ENST00000536675.2_Silent_p.I105I Q9HBT6 CAD20_HUMAN cadherin 20, type 2 105 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) GTGCTGGCATCGTGTTTACCA 0.517000 8 8 0 0 0.000673 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147030090 147030090 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:147030090C>T ENST00000265272.5 - 4 1115 c.648G>A c.(646-648)aaG>aaA p.K216K JAKMIP2_ENST00000333010.6_Silent_p.K174K|JAKMIP2_ENST00000507386.1_Silent_p.K216K NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 216 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) TGATCCTGTCCTTGGCTTTGA 0.388000 18 18 0 0 0.001216 0 0 KMT2A 4297 broad.mit.edu 37 11 118373665 118373665 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:118373665C>T ENST00000534358.1 + 27 7081 c.7058C>T c.(7057-7059)tCc>tTc p.S2353F KMT2A_ENST00000389506.5_Missense_Mutation_p.S2350F|KMT2A_ENST00000354520.4_Missense_Mutation_p.S2312F NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AAAATCGGCTCCTTTGCTGAA 0.468000 22 19 0 0 0.005443 0 0 GPR78 27201 broad.mit.edu 37 4 8584315 8584315 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:8584315G>A ENST00000382487.4 + 2 1143 c.726G>A c.(724-726)aaG>aaA p.K242K GPR78_ENST00000509216.1_3'UTR NM_080819.4 NP_543009.2 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 242 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.K242N(1) central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 CCACCAGGAAGATTGGCATTG 0.627000 22 51 0 0 0.005443 0 0 CD163L1 283316 broad.mit.edu 37 12 7556243 7556243 + Nonsense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:7556243C>T ENST00000313599.3 - 6 1353 c.1296G>A c.(1294-1296)tgG>tgA p.W432* CD163L1_ENST00000396630.1_Nonsense_Mutation_p.W432*|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.W442* Q9NR16 C163B_HUMAN CD163 molecule-like 1 432 SRCR 4. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TGCTGTTTATCCAAATGTCTC 0.463000 15 34 0 0 0.003163 0 0 RPS4Y2 140032 broad.mit.edu 37 Y 22923205 22923205 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrY:22923205C>T ENST00000288666.5 + 4 298 c.298C>T c.(298-300)Cgc>Tgc p.R100C NM_001039567.2 NP_001034656.1 Q8TD47 RS4Y2_HUMAN ribosomal protein S4, Y-linked 2 100 S4 RNA-binding. translation ribosome rRNA binding|structural constituent of ribosome lung(2) 2 TGAGCATTTCCGCCTGGTCTA 0.423000 12 10 0 0 0.003163 0 0 SEMA5B 54437 broad.mit.edu 37 3 122645475 122645475 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:122645475G>A ENST00000195173.4 - 9 1203 c.900C>T c.(898-900)ttC>ttT p.F300F SEMA5B_ENST00000357599.3_Silent_p.F300F|SEMA5B_ENST00000451055.2_Silent_p.F354F Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 300 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) TCTCCCGCAGGAAGAAGTATG 0.612000 6 11 0 0 0.001984 0 0 NOL4 8715 broad.mit.edu 37 18 31673492 31673492 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:31673492C>T ENST00000261592.5 - 5 1006 c.709G>A c.(709-711)Gat>Aat p.D237N NOL4_ENST00000589544.1_Missense_Mutation_p.D237N|NOL4_ENST00000538587.1_Missense_Mutation_p.D163N|NOL4_ENST00000269185.4_Missense_Mutation_p.D123N|NOL4_ENST00000535475.1_Missense_Mutation_p.D82N NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 237 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 GAGCTAAGATCAGAGTTCACA 0.363000 18 10 0 0 0.004990 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846785 47846785 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:47846785C>T ENST00000339488.4 - 3 1828 c.1795G>A c.(1795-1797)Gat>Aat p.D599N NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 599 integral to membrane hedgehog receptor activity TTGCTTTCATCCCCTGCCTTG 0.423000 12 18 0 0 0.001368 0 0 RFX6 222546 broad.mit.edu 37 6 117248234 117248234 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:117248234C>T ENST00000332958.2 + 17 1946 c.1930C>T c.(1930-1932)Ccc>Tcc p.P644S NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 644 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 GATGACACCACCCATTTCTCC 0.488000 27 21 0 0 0.006320 0 0 BCL6 604 broad.mit.edu 37 3 187446313 187446313 + Missense_Mutation SNP G G A rs137878288 byFrequency TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:187446313G>A ENST00000406870.2 - 6 1741 c.1375C>T c.(1375-1377)Cgc>Tgc p.R459C BCL6_ENST00000450123.2_Missense_Mutation_p.R459C|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.R459C|RP11-211G3.3_ENST00000449623.1_Intron NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 459 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) CTGCTGCTGCGGGGAGAGCCC 0.622000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 14 38 0 0 0.003163 0 0 ILKAP 80895 broad.mit.edu 37 2 239079622 239079622 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:239079622G>A ENST00000254654.3 - 11 1175 c.1000C>T c.(1000-1002)Cca>Tca p.P334S NM_030768.2 NP_110395.1 Q9H0C8 ILKAP_HUMAN integrin-linked kinase-associated serine/threonine phosphatase 334 PP2C-like. cytoplasm|protein serine/threonine phosphatase complex metal ion binding|protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163) GCTTCTTCTGGGGTAAAGACC 0.443000 43 71 0 0 0.003610 0 0 DGKB 1607 broad.mit.edu 37 7 14613939 14613939 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:14613939G>A ENST00000403951.2 - 20 2090 c.1671C>T c.(1669-1671)atC>atT p.I557I DGKB_ENST00000402815.1_Silent_p.I556I|DGKB_ENST00000444700.2_Silent_p.I538I|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Silent_p.I557I|DGKB_ENST00000407950.1_Silent_p.I549I|DGKB_ENST00000406247.3_Silent_p.I557I|DGKB_ENST00000258767.5_Silent_p.I557I Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 557 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) TGTCCAACATGATTTCTGTGC 0.368000 36 59 0 0 0.003755 0 0 TSHZ3 57616 broad.mit.edu 37 19 31767601 31767601 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:31767601G>A ENST00000240587.4 - 2 3425 c.3098C>T c.(3097-3099)cCc>cTc p.P1033L NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 1033 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GTCTTCCTCGGGGGAGGACGT 0.498000 4 20 0 0 0.000602 0 0 NBEA 26960 broad.mit.edu 37 13 36242548 36242548 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:36242548G>A ENST00000400445.3 + 57 9176 c.8642G>A c.(8641-8643)gGg>gAg p.G2881E NBEA_ENST00000537702.1_Missense_Mutation_p.G674E|NBEA_ENST00000379939.2_Missense_Mutation_p.G2878E|NBEA_ENST00000310336.4_Missense_Mutation_p.G2881E|NBEA_ENST00000379922.3_Missense_Mutation_p.G459E|NBEA_ENST00000540320.1_Missense_Mutation_p.G2881E NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 2881 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GTCACCGGAGGGGACAATGGG 0.443000 9 13 0 0 0.006214 0 0 CCNB3 85417 broad.mit.edu 37 X 50051652 50051652 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:50051652G>A ENST00000376042.1 + 6 781 c.483G>A c.(481-483)aaG>aaA p.K161K CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.K161K|CCNB3_ENST00000376038.1_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 161 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) TAGTTTTAAAGGAGGAACCCA 0.403000 23 5 0 0 0.003954 0 0 GPR98 84059 broad.mit.edu 37 5 89953728 89953728 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:89953728G>A ENST00000405460.2 + 21 4481 c.4385G>A c.(4384-4386)gGg>gAg p.G1462E NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1462 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) TCAGGTCCTGGGATACTGAGA 0.393000 14 19 0 0 0.003163 0 0 MAGI3 260425 broad.mit.edu 37 1 114216003 114216003 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:114216003C>T ENST00000369615.1 + 19 3167 c.3105C>T c.(3103-3105)ctC>ctT p.L1035L MAGI3_ENST00000307546.9_Silent_p.L1035L|MAGI3_ENST00000369611.4_Silent_p.L1035L|MAGI3_ENST00000369617.4_Silent_p.L1060L NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 1060 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GATTCAGCCTCCGAGGGGGGA 0.493000 31 126 0 0 0.002836 0 0 MAP7D1 55700 broad.mit.edu 37 1 36643568 36643568 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:36643568C>T ENST00000316156.4 + 8 1816 c.1363C>T c.(1363-1365)Cca>Tca p.P455S MAP7D1_ENST00000373148.4_Missense_Mutation_p.P38S|MAP7D1_ENST00000373150.4_Missense_Mutation_p.P460S|MAP7D1_ENST00000373151.2_Missense_Mutation_p.P492S Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 492 cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) CACTCTGCCTCCAAAGCCACC 0.692000 6 32 0 0 0.001168 0 0 RFT1 91869 broad.mit.edu 37 3 53133503 53133503 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:53133503C>T ENST00000296292.3 - 11 1164 c.e11-1 RFT1_ENST00000394738.3_Splice_Site NM_052859.3 NP_443091.1 Q96AA3 RFT1_HUMAN RFT1 homolog (S. cerevisiae) carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) AAAACAGGACCTACAAGGAAA 0.498000 7 18 0 0 0.001984 0 0 KRT16 3868 broad.mit.edu 37 17 39766713 39766713 + Nonsense_Mutation SNP C C A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:39766713C>A ENST00000301653.4 - 6 1214 c.1150G>T c.(1150-1152)Gag>Tag p.E384* NM_005557.3 NP_005548.2 P08779 K1C16_HUMAN keratin 16 384 Coil 2.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) GCCAGCTGCTCCTCCACACTG 0.582000 41 21 2.46787e-29 3.25202e-29 0.003610 1 0 SLITRK6 84189 broad.mit.edu 37 13 86370229 86370229 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:86370229C>T ENST00000400286.2 - 2 1013 c.415G>A c.(415-417)Gaa>Aaa p.E139K NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 139 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) TGCAGGAATTCCAGGTTTTCC 0.363000 28 41 0 0 0.004656 0 0 OSCP1 127700 broad.mit.edu 37 1 36884634 36884634 + Silent SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:36884634T>C ENST00000356637.5 - 10 1074 c.1011A>G c.(1009-1011)ccA>ccG p.P337P OSCP1_ENST00000315643.9_Intron|OSCP1_ENST00000433045.2_Silent_p.P282P|OSCP1_ENST00000235532.5_Silent_p.P327P|OSCP1_ENST00000495222.1_Intron Q8WVF1 OSCP1_HUMAN organic solute carrier partner 1 337 transport basal plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 22 ATAACTCTTCTGGCCTGGTTA 0.453000 62 116 0 0 0.003610 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64627614 64627614 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:64627614C>T ENST00000498707.1 - 12 2108 c.1766G>A c.(1765-1767)gGa>gAa p.G589E ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G561E NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 589 TSP type-1 1. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TCCCCAGGATCCATCTGTCAC 0.493000 92 266 0 0 0.003610 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54905578 54905578 + Missense_Mutation SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:54905578A>G ENST00000474759.1 + 18 1687 c.1639A>G c.(1639-1641)Aaa>Gaa p.K547E CACNA2D3_ENST00000490478.1_Missense_Mutation_p.K453E|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.K547E|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.K547E NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 547 Cache. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CGAAGAAGGAAAAAAGCGAAG 0.448000 18 23 0 0 0.001216 0 0 ADAR 103 broad.mit.edu 37 1 154574584 154574584 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:154574584G>A ENST00000368474.4 - 2 733 c.534C>T c.(532-534)tcC>tcT p.S178S ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Silent_p.S221S|ADAR_ENST00000471068.1_5'UTR NM_001111.4|NM_015840.3|NM_015841.3 NP_001102.2|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 178 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) TCTTTGCCAGGGAGTATAAAA 0.517000 42 95 0 0 0.002852 0 0 PSD 5662 broad.mit.edu 37 10 104165107 104165107 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:104165107C>T ENST00000020673.5 - 12 2848 c.2322G>A c.(2320-2322)agG>agA p.R774R PSD_ENST00000406432.1_Silent_p.R774R NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 774 PH. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) ACATACTCTTCCTGCAGTCAG 0.672000 34 82 0 0 0.002852 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618596 77618596 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:77618596C>T ENST00000521891.2 + 2 2721 c.2273C>T c.(2272-2274)cCg>cTg p.P758L ZFHX4_ENST00000518282.1_Missense_Mutation_p.P758L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P758L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P758L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 758 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) ACACCCTCTCCGTCCAAACCC 0.522000 HNSCC(33;0.089) 6 27 0 0 0.001168 0 0 DNAH11 8701 broad.mit.edu 37 7 21781647 21781647 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:21781647C>T ENST00000328843.6 + 50 8069 c.8038C>T c.(8038-8040)Cca>Tca p.P2680S DNAH11_ENST00000409508.3_Missense_Mutation_p.P2673S Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2680 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AGCATTTGCTCCATCAATTCT 0.403000 Kartagener syndrome 24 74 0 0 0.003954 0 0 PTPRB 5787 broad.mit.edu 37 12 70949670 70949670 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:70949670C>T ENST00000334414.6 - 19 5017 c.4973G>A c.(4972-4974)aGc>aAc p.S1658N PTPRB_ENST00000550358.1_Missense_Mutation_p.S1570N|PTPRB_ENST00000550857.1_Missense_Mutation_p.S1350N|PTPRB_ENST00000538708.1_Missense_Mutation_p.S1350N|PTPRB_ENST00000451516.2_Missense_Mutation_p.S1350N|PTPRB_ENST00000261266.5_Missense_Mutation_p.S1440N NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1440 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGTGATAGTGCTGTCTTCAAC 0.522000 7 12 0 0 0.004482 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12908051 12908051 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:12908051G>A ENST00000317869.6 - 2 317 c.92C>T c.(91-93)tCg>tTg p.S31L NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 CTCCACATCCGATTTCTTGAC 0.463000 6 63 0 0 0.001984 0 0 PSD 5662 broad.mit.edu 37 10 104174893 104174893 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:104174893G>A ENST00000020673.5 - 4 1377 c.851C>T c.(850-852)tCc>tTc p.S284F PSD_ENST00000406432.1_Missense_Mutation_p.S284F NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 284 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GTCTGTCTCGGAGTACTTGGC 0.657000 7 19 0 0 0.001984 0 0 SUPT6H 6830 broad.mit.edu 37 17 27010010 27010010 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:27010010C>T ENST00000314616.6 + 15 2061 c.1778C>T c.(1777-1779)gCc>gTc p.A593V SUPT6H_ENST00000347486.4_Missense_Mutation_p.A593V NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 593 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TACATGGTAGCCCTGCAGATT 0.557000 7 13 0 0 0.001984 0 0 CLEC5A 23601 broad.mit.edu 37 7 141631613 141631613 + Missense_Mutation SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:141631613T>C ENST00000546910.1 - 6 555 c.359A>G c.(358-360)gAc>gGc p.D120G CLEC5A_ENST00000470595.1_5'UTR|CLEC5A_ENST00000551012.2_Missense_Mutation_p.D97G|CLEC5A_ENST00000438351.1_Missense_Mutation_p.D97G|MGAM_ENST00000497554.1_3'UTR|CLEC5A_ENST00000439991.1_Missense_Mutation_p.D16G NM_013252.2 NP_037384.1 Q9NY25 CLC5A_HUMAN C-type lectin domain family 5, member A 120 C-type lectin. anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) ATCAGTTATGTCCTGAAGAAA 0.383000 21 43 0 0 0.001523 0 0 NDST2 8509 broad.mit.edu 37 10 75567398 75567398 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:75567398G>A ENST00000299641.4 - 4 1350 c.380C>T c.(379-381)cCc>cTc p.P127L NDST2_ENST00000309979.6_Missense_Mutation_p.P250L NM_003635.3 NP_003626.1 P52849 NDST2_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 250 Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Prostate(51;0.0112) TGGCACTGCGGGCTCAGCTGG 0.582000 13 19 0 0 0.001368 0 0 MICAL1 64780 broad.mit.edu 37 6 109770007 109770007 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:109770007G>A ENST00000368952.4 - 12 1939 c.1649C>T c.(1648-1650)tCc>tTc p.S550F MICAL1_ENST00000358807.3_Missense_Mutation_p.S531F|MICAL1_ENST00000358577.3_Missense_Mutation_p.S445F Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 531 CH. cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 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;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) AGACAAATCGGAGACGTGGAC 0.647000 21 19 0 0 0.001523 0 0 NWD1 284434 broad.mit.edu 37 19 16918482 16918482 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:16918482C>T ENST00000524140.2 + 18 4240 c.3822C>T c.(3820-3822)ctC>ctT p.L1274L NWD1_ENST00000549814.1_Silent_p.L1232L|NWD1_ENST00000523826.1_Silent_p.L1068L|NWD1_ENST00000379808.3_Silent_p.L1274L|NWD1_ENST00000552788.1_Silent_p.L1274L|NWD1_ENST00000339803.6_Silent_p.L1139L NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1274 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TTACGGGCCTCGTGTCGGGGG 0.577000 32 25 0 0 0.002836 0 0 EPHA7 2045 broad.mit.edu 37 6 93964457 93964457 + Missense_Mutation SNP T T G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:93964457T>G ENST00000369303.4 - 14 2624 c.2440A>C c.(2440-2442)Aca>Cca p.T814P NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 814 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CTGGCTGATGTGAATTTCCGG 0.383000 13 13 0 0 0.001368 0 0 ADAM28 10863 broad.mit.edu 37 8 24209551 24209551 + Missense_Mutation SNP C C G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:24209551C>G ENST00000265769.4 + 21 2340 c.2230C>G c.(2230-2232)Ccc>Gcc p.P744A RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_3'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 744 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AGGCAATGAGCCCCCAGCCTC 0.403000 24 18 0 0 0.007291 0 0 OR5D14 219436 broad.mit.edu 37 11 55563136 55563136 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:55563136C>T ENST00000335605.1 + 1 105 c.105C>T c.(103-105)ctC>ctT p.L35L NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) TGTTTCTGCTCATGTATGTTA 0.403000 29 50 0 0 0.007291 0 0 SLC25A13 10165 broad.mit.edu 37 7 95820540 95820540 + Missense_Mutation SNP G G A rs137944390 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:95820540G>A ENST00000416240.2 - 7 825 c.635C>T c.(634-636)tCc>tTc p.S212F SLC25A13_ENST00000542654.1_Missense_Mutation_p.S104F|SLC25A13_ENST00000265631.5_Missense_Mutation_p.S212F NM_001160210.1|NM_014251.2 NP_001153682.1|NP_055066.1 Q9UJS0 CMC2_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 13 212 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) AACTTGATGGGATGTGGTACC 0.343000 24 47 0 0 0.003330 0 0 PCCB 5096 broad.mit.edu 37 3 136048787 136048787 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:136048787C>T ENST00000471595.1 + 15 1557 c.1539C>T c.(1537-1539)gcC>gcT p.A513A PCCB_ENST00000482086.1_Silent_p.A397A|PCCB_ENST00000490504.1_Silent_p.A456A|PCCB_ENST00000251654.4_Silent_p.A513A|PCCB_ENST00000483687.1_Silent_p.A494A|PCCB_ENST00000466072.1_Silent_p.A533A|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000469217.1_Silent_p.A533A|PCCB_ENST00000462637.1_Silent_p.A490A|PCCB_ENST00000468777.1_Silent_p.A544A P05166 PCCB_HUMAN propionyl CoA carboxylase, beta polypeptide 513 Carboxyltransferase. fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 25 Biotin(DB00121)|L-Valine(DB00161) CCACACGTGCCCGAATCTGCT 0.468000 19 44 0 0 0.001882 0 0 LCP2 3937 broad.mit.edu 37 5 169693889 169693889 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:169693889G>A ENST00000046794.5 - 10 1310 c.695C>T c.(694-696)gCt>gTt p.A232V LCP2_ENST00000521416.1_Missense_Mutation_p.A27V NM_005565.3 NP_005556.1 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) 232 immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 23 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) TATTGAAGGAGCAGGGACTGG 0.507000 37 36 0 0 0.006230 0 0 SLC17A2 10246 broad.mit.edu 37 6 25917290 25917290 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:25917290G>A ENST00000377850.3 - 7 1199 c.675C>T c.(673-675)ctC>ctT p.L225L SLC17A2_ENST00000360488.3_Silent_p.L225L|SLC17A2_ENST00000265425.3_Silent_p.L225L O00624 NPT3_HUMAN solute carrier family 17, member 2 225 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity p.L225L(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 TGAACCATAGGAGACAGCAGA 0.463000 24 10 0 0 0.003954 0 0 SHROOM3 57619 broad.mit.edu 37 4 77675821 77675821 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:77675821C>T ENST00000296043.6 + 7 5138 c.4185C>T c.(4183-4185)acC>acT p.T1395T NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1395 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) ACACCCTGACCCAGCCTCCCG 0.627000 4 12 0 0 0.000248 0 0 EIF5B 9669 broad.mit.edu 37 2 100010788 100010788 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:100010788G>A ENST00000289371.5 + 19 3141 c.2939G>A c.(2938-2940)gGa>gAa p.G980E NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 980 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 GAAGAAAAAGGAGTCTATGTC 0.393000 30 44 0 0 0.006320 0 0 PAGE2B 389860 broad.mit.edu 37 X 55103945 55103945 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:55103945G>A ENST00000374971.1 + 4 359 c.307G>A c.(307-309)Gtg>Atg p.V103M PAGE2B_ENST00000374974.3_Missense_Mutation_p.V86M NM_001015038.1 NP_001015038.1 Q5JRK9 GGEE3_HUMAN P antigen family, member 2B 103 lung(3) 3 TCTCACTAAAGTGCTGGAAGC 0.393000 35 17 0 0 0.007835 0 0 DDX50 79009 broad.mit.edu 37 10 70670845 70670845 + Missense_Mutation SNP T T A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:70670845T>A ENST00000373585.3 + 4 589 c.482T>A c.(481-483)tTt>tAt p.F161Y NM_024045.1 NP_076950.1 Q9BQ39 DDX50_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 161 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 ACATATCTCTTTCCTATTCAA 0.343000 48 57 0 0 0.003610 0 0 TSC2 7249 broad.mit.edu 37 16 2125887 2125887 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:2125887C>T ENST00000219476.3 + 23 3263 c.2633C>T c.(2632-2634)cCc>cTc p.P878L TSC2_ENST00000350773.4_Missense_Mutation_p.P878L|TSC2_ENST00000439673.2_Missense_Mutation_p.P841L|TSC2_ENST00000568454.1_Missense_Mutation_p.P889L|TSC2_ENST00000353929.4_Missense_Mutation_p.P878L|TSC2_ENST00000382538.6_Missense_Mutation_p.P829L|TSC2_ENST00000401874.2_Missense_Mutation_p.P878L NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 878 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) TACACCAACCCCTCCAAGTGA 0.657000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 15 17 0 0 0.006122 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138406667 138406667 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:138406667C>T ENST00000310018.2 - 19 2396 c.2114G>A c.(2113-2115)gGg>gAg p.G705E ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G705E|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G705E NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 705 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GTCCAGAGCCCCGTGGGTATC 0.532000 11 25 0 0 0.001368 0 0 OR10H1 26539 broad.mit.edu 37 19 15918182 15918182 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:15918182G>A ENST00000334920.2 - 1 754 c.666C>T c.(664-666)atC>atT p.I222I NM_013940.2 NP_039228.1 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, member 1 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 TGGCGGCCACGATGAAGGCAT 0.577000 27 27 0 0 0.006999 0 0 PLG 5340 broad.mit.edu 37 6 161152886 161152886 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:161152886C>T ENST00000308192.9 + 12 1611 c.1548C>T c.(1546-1548)ttC>ttT p.F516F NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 516 Kringle 5. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) ACAGCATTTTCACTCCAGAGA 0.512000 18 14 0 0 0.001882 0 0 PRMT1 3276 broad.mit.edu 37 19 50189873 50189873 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:50189873C>T ENST00000532489.1 + 10 1290 c.784C>T c.(784-786)Ccg>Tcg p.P262S PRMT1_ENST00000391851.4_Missense_Mutation_p.P290S|PRMT1_ENST00000454376.2_Missense_Mutation_p.P308S Q8WUW5 Q8WUW5_HUMAN protein arginine methyltransferase 1 289 cytoplasm protein methyltransferase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2) 12 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012) CCCCGAGTCCCCGTACACGCA 0.687000 4 16 0 0 0.001168 0 0 ZNF587 84914 broad.mit.edu 37 19 58370775 58370775 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:58370775C>T ENST00000339656.5 + 3 1177 c.995C>T c.(994-996)tCt>tTt p.S332F ZNF814_ENST00000595295.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.S289F|ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.S331F|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 332 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) TGTGGGAAATCTTTTGGTCAA 0.458000 44 78 0 0 0.003610 0 0 SPAM1 6677 broad.mit.edu 37 7 123594421 123594421 + Missense_Mutation SNP A A T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:123594421A>T ENST00000340011.5 + 3 1154 c.797A>T c.(796-798)aAc>aTc p.N266I SPAM1_ENST00000402183.2_Missense_Mutation_p.N266I|SPAM1_ENST00000223028.7_Missense_Mutation_p.N266I|SPAM1_ENST00000439500.1_Missense_Mutation_p.N266I|SPAM1_ENST00000460182.1_Missense_Mutation_p.N266I NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 266 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) ATTTATTTGAACACTCAGCAG 0.423000 11 50 0 0 0.001368 0 0 LPAR1 1902 broad.mit.edu 37 9 113703904 113703904 + Missense_Mutation SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:113703904T>C ENST00000374431.3 - 4 973 c.590A>G c.(589-591)aAc>aGc p.N197S LPAR1_ENST00000541779.1_Missense_Mutation_p.N198S|LPAR1_ENST00000538760.1_Missense_Mutation_p.N198S|LPAR1_ENST00000374430.2_Missense_Mutation_p.N197S|LPAR1_ENST00000358883.4_Missense_Mutation_p.N197S NM_057159.2 NP_476500.1 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 197 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 GGGTGCCATGTTGGAACAATT 0.463000 18 40 0 0 0.001523 0 0 COL11A1 1301 broad.mit.edu 37 1 103412448 103412448 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:103412448C>T ENST00000358392.2 - 42 3586 c.3269G>A c.(3268-3270)gGa>gAa p.G1090E COL11A1_ENST00000370096.3_Missense_Mutation_p.G1078E|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1039E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G962E NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1078 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) ACCCTGAGGTCCCGGGCGCCC 0.478000 6 22 0 0 0.001168 0 0 RGS12 6002 broad.mit.edu 37 4 3318983 3318983 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:3318983G>A ENST00000336727.3 + 2 1990 c.1086G>A c.(1084-1086)gaG>gaA p.E362E RGS12_ENST00000543385.1_Silent_p.E362E|RGS12_ENST00000344733.5_Silent_p.E362E|RGS12_ENST00000382788.3_Silent_p.E362E NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 362 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TTGGGTTTGAGTGCACGGCCG 0.592000 17 43 0 0 0.004990 0 0 IGF2BP2 10644 broad.mit.edu 37 3 185407217 185407217 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:185407217G>A ENST00000382199.2 - 6 698 c.603C>T c.(601-603)ccC>ccT p.P201P IGF2BP2_ENST00000457616.2_Silent_p.P207P|IGF2BP2_ENST00000421047.2_Silent_p.P144P|IGF2BP2_ENST00000346192.3_Silent_p.P201P NM_006548.4 NP_006539.3 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding protein 2 201 KH 1. anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 20 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) CAAACTGGGTGGGGACCAGGA 0.607000 68 167 0 0 0.003610 0 0 SERPINA7 6906 broad.mit.edu 37 X 105278308 105278308 + Missense_Mutation SNP A A C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:105278308A>C ENST00000327674.4 - 3 1297 c.962T>G c.(961-963)tTg>tGg p.L321W SERPINA7_ENST00000487487.1_5'UTR|SERPINA7_ENST00000372563.1_Missense_Mutation_p.L321W P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 321 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) GCCCATCTTCAAAAGTGTGGC 0.413000 27 14 0 0 0.006320 0 0 MEPCE 56257 broad.mit.edu 37 7 100030695 100030695 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:100030695C>T ENST00000310512.2 + 2 2213 c.1825C>T c.(1825-1827)Cct>Tct p.P609S MEPCE_ENST00000414441.1_Missense_Mutation_p.P140S NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 609 Bin3-type SAM. methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCACCTACGCCCTGGGGGCAT 0.577000 13 36 0 0 0.002450 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256181 140256181 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:140256181C>T ENST00000398631.2 + 1 1124 c.1124C>T c.(1123-1125)tCg>tTg p.S375L PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTAGCGTGTCGGATCGTGAC 0.512000 18 18 0 0 0.007413 0 0 FCF1 51077 broad.mit.edu 37 14 75201622 75201622 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:75201622C>T ENST00000341162.4 + 8 640 c.586C>T c.(586-588)Cct>Tct p.P196S FCF1_ENST00000553615.1_Missense_Mutation_p.P181S|FCF1_ENST00000534938.2_Missense_Mutation_p.P184S NM_015962.4 NP_057046.1 Q9Y324 FCF1_HUMAN FCF1 rRNA-processing protein 196 rRNA processing nucleolus breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.0037) TTATGGAGCCCCTCGATTCTA 0.413000 38 28 0 0 0.007835 0 0 HAO1 54363 broad.mit.edu 37 20 7895057 7895057 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:7895057G>A ENST00000378789.3 - 3 350 c.299C>T c.(298-300)tCc>tTc p.S100F NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 100 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CGTTCCCAGGGACTGACAGGC 0.502000 12 15 0 0 0.002450 0 0 ALPK2 115701 broad.mit.edu 37 18 56184389 56184389 + Silent SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:56184389T>C ENST00000361673.3 - 9 5904 c.5691A>G c.(5689-5691)caA>caG p.Q1897Q NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1897 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TGAAGATGAGTTGGCTGAATT 0.532000 8 5 0 0 0.000673 0 0 LRFN2 57497 broad.mit.edu 37 6 40360102 40360102 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:40360102C>T ENST00000338305.6 - 3 2492 c.1950G>A c.(1948-1950)aaG>aaA p.K650K NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 650 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) CAAGGCTGGGCTTGGGGCGCG 0.706000 3 1 0 0 0.004672 0 0 SLC6A18 348932 broad.mit.edu 37 5 1232888 1232888 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:1232888C>T ENST00000324642.3 + 3 447 c.324C>T c.(322-324)tcC>tcT p.S108S SLC6A18_ENST00000296821.4_Silent_p.S108S NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 108 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCACGCTGTCCTTCCTGATCA 0.622000 14 38 0 0 0.001855 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45458758 45458758 + RNA SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:45458758G>A ENST00000548424.1 + 0 448 CCTCTGTTGAGAAAAGCCAAA 0.433000 8 19 0 0 0.006214 0 0 RICTOR 253260 broad.mit.edu 37 5 38950766 38950766 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:38950766G>A ENST00000357387.3 - 31 3214 c.3184C>T c.(3184-3186)Ctt>Ttt p.L1062F RICTOR_ENST00000296782.5_Missense_Mutation_p.L1062F NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 1062 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) TTGATATCAAGGAAAAATGTG 0.348000 30 28 0 0 0.002096 0 0 NAT10 55226 broad.mit.edu 37 11 34152950 34152950 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:34152950C>T ENST00000257829.3 + 14 1598 c.1392C>T c.(1390-1392)tcC>tcT p.S464S NAT10_ENST00000531159.2_Silent_p.S392S|NAT10_ENST00000527971.1_Intron NM_024662.2 NP_078938.2 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 464 nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) ATGAGGTTTCCCTCCAGGAGT 0.463000 18 16 0 0 0.001523 0 0 DGKB 1607 broad.mit.edu 37 7 14620486 14620486 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:14620486C>T ENST00000403951.2 - 19 2032 c.e19+1 DGKB_ENST00000402815.1_Splice_Site|DGKB_ENST00000444700.2_Splice_Site|DGKB_ENST00000403963.1_Splice_Site|DGKB_ENST00000399322.3_Splice_Site|DGKB_ENST00000407950.1_Splice_Site|DGKB_ENST00000406247.3_Splice_Site|DGKB_ENST00000258767.5_Splice_Site Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) AGCTGCTTTACCTCCTCCCCA 0.438000 11 35 0 0 0.001368 0 0 PPWD1 23398 broad.mit.edu 37 5 64878967 64878967 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:64878967G>A ENST00000261308.5 + 8 1525 c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K PPWD1_ENST00000535264.1_Missense_Mutation_p.E455K|PPWD1_ENST00000538977.1_Missense_Mutation_p.E329K NM_015342.3 NP_056157.1 Q96BP3 PPWD1_HUMAN peptidylprolyl isomerase domain and WD repeat containing 1 485 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 19 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00451) TACTCAAGCTGAAGGACCTAA 0.403000 26 24 0 0 0.003954 0 0 USP43 124739 broad.mit.edu 37 17 9583588 9583588 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:9583588C>T ENST00000570827.2 + 6 1151 c.77C>T c.(76-78)tCt>tTt p.S26F USP43_ENST00000285199.6_Missense_Mutation_p.S337F|USP43_ENST00000570475.1_Missense_Mutation_p.S337F|USP43_ENST00000575346.1_3'UTR Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 337 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 TTCCAGCGGTCTTTCTTTGAT 0.438000 23 15 0 0 0.003954 0 0 C10orf137 26098 broad.mit.edu 37 10 127431743 127431743 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:127431743C>T ENST00000337623.3 + 17 2491 c.2386C>T c.(2386-2388)Cca>Tca p.P796S C10orf137_ENST00000356792.4_Missense_Mutation_p.P830S NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 830 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AAGCCAAAATCCAGAACACTA 0.353000 15 21 0 0 0.002450 0 0 ZNF525 170958 broad.mit.edu 37 19 53884421 53884421 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:53884421C>T ENST00000467003.1 + 4 682 c.481C>T c.(481-483)Ctg>Ttg p.L161L ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000474037.1_Silent_p.L197L zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 GGATAATTTTCTGAATTATTC 0.373000 17 37 0 0 0.004007 0 0 PRRC2A 7916 broad.mit.edu 37 6 31597008 31597008 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:31597008C>T ENST00000376033.2 + 13 2087 c.1853C>T c.(1852-1854)cCc>cTc p.P618L PRRC2A_ENST00000376007.4_Missense_Mutation_p.P618L NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 618 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 AAGGTGGAACCCAAGGGTGAT 0.577000 28 23 0 0 0.001786 0 0 CFHR4 10877 broad.mit.edu 37 1 196883701 196883701 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:196883701G>A ENST00000367416.2 + 8 1391 c.1254G>A c.(1252-1254)ttG>ttA p.L418L CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Silent_p.L172L|CFHR4_ENST00000367418.1_Silent_p.L172L NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 ATGACACATTGGACTACGAAT 0.398000 17 24 0 0 0.001216 0 0 ANK3 288 broad.mit.edu 37 10 61834849 61834849 + Silent SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:61834849T>C ENST00000280772.1 - 37 5981 c.5790A>G c.(5788-5790)caA>caG p.Q1930Q ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1930 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 GGAGTTCAGGTTGGAATGGCT 0.403000 10 25 0 0 0.000673 0 0 CARD11 84433 broad.mit.edu 37 7 2952950 2952950 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:2952950C>T ENST00000396946.4 - 22 3393 c.2990G>A c.(2989-2991)gGt>gAt p.G997D NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 997 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CTCCATGGCACCTCCCGAGTT 0.667000 Mis DLBCL 23 60 0 0 0.002780 0 0 KRTAP13-3 337960 broad.mit.edu 37 21 31797904 31797904 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr21:31797904G>A ENST00000390690.2 - 1 382 c.327C>T c.(325-327)tcC>tcT p.S109S NM_181622.1 NP_853653.1 Q3SY46 KR133_HUMAN keratin associated protein 13-3 109 intermediate filament endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 14 CACAGCTCAGGGAGCAGCAGC 0.517000 9 16 0 0 0.006214 0 0 USP34 9736 broad.mit.edu 37 2 61493252 61493252 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:61493252C>T ENST00000398571.2 - 42 5560 c.5484G>A c.(5482-5484)aaG>aaA p.K1828K NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 1828 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) GTTGTCGGTCCTTTAGACTTG 0.383000 15 23 0 0 0.003163 0 0 XPO4 64328 broad.mit.edu 37 13 21382643 21382643 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:21382643G>A ENST00000400602.2 - 12 1606 c.1571C>T c.(1570-1572)tCa>tTa p.S524L XPO4_ENST00000255305.6_Missense_Mutation_p.S524L NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 524 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) AACAGTGCTTGAACCCGGTGA 0.358000 12 29 0 0 0.001368 0 0 GAPDHS 26330 broad.mit.edu 37 19 36029566 36029566 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:36029566G>A ENST00000222286.4 + 4 546 c.430G>A c.(430-432)Gag>Aag p.E144K NM_014364.4 NP_055179.1 O14556 G3PT_HUMAN glyceraldehyde-3-phosphate dehydrogenase, spermatogenic 144 gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility cytosol glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8) 11 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) NADH(DB00157) GGACAACCATGAGATCTCTGT 0.512000 13 21 0 0 0.002450 0 0 C1orf94 84970 broad.mit.edu 37 1 34677852 34677852 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:34677852C>T ENST00000488417.1 + 6 1686 c.1566C>T c.(1564-1566)ttC>ttT p.F522F C1orf94_ENST00000373374.3_Silent_p.F332F NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 332 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) AGCAGATCTTCCGCTCTTCCT 0.557000 16 31 0 0 0.001216 0 0 HPR 3250 broad.mit.edu 37 16 72110725 72110725 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:72110725G>A ENST00000540303.2 + 5 824 c.792G>A c.(790-792)aaG>aaA p.K264K HPR_ENST00000356967.5_Silent_p.K264K|HPR_ENST00000228226.8_Silent_p.K301K|HPR_ENST00000561690.1_Intron NM_020995.3 NP_066275.3 P00739 HPTR_HUMAN haptoglobin-related protein 264 Peptidase S1. proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) CCAAATGGAAGGCACCGAAGA 0.507000 10 48 0 0 0.006214 0 0 DIDO1 11083 broad.mit.edu 37 20 61513394 61513394 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:61513394G>A ENST00000266070.4 - 16 4239 c.3914C>T c.(3913-3915)tCg>tTg p.S1305L DIDO1_ENST00000395343.1_Missense_Mutation_p.S1305L NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1305 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GGAAGCAGACGAAGCGGTGGA 0.597000 34 79 0 0 0.005524 0 0 OR1E1 8387 broad.mit.edu 37 17 3300968 3300968 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:3300968G>A ENST00000322608.2 - 1 736 c.737C>T c.(736-738)tCt>tTt p.S246F NM_003553.2 NP_003544.2 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, member 1 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(2)|lung(5) 10 TGACACCACAGACAGGTGGGA 0.463000 18 16 0 0 0.007413 0 0 FANCA 2175 broad.mit.edu 37 16 89815171 89815171 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:89815171G>A ENST00000389301.3 - 33 3274 c.3244C>T c.(3244-3246)Ctc>Ttc p.L1082F FANCA_ENST00000568369.1_Missense_Mutation_p.L1082F NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 1082 L -> P (in FA). DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) AGGCGGAGGAGGATCCTGGAA 0.582000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 7 22 0 0 0.004482 0 0 APOL5 80831 broad.mit.edu 37 22 36123135 36123135 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:36123135G>A ENST00000249044.2 + 3 1020 c.1020G>A c.(1018-1020)ctG>ctA p.L340L NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 340 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 AGCAGGAGCTGGACCGGCTCA 0.627000 17 16 0 0 0.004007 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26887601 26887601 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:26887601C>T ENST00000374168.2 + 16 1561 c.1407C>T c.(1405-1407)caC>caT p.H469H RPS6KA1_ENST00000530003.1_Silent_p.H453H|RPS6KA1_ENST00000526792.1_Silent_p.H377H|RPS6KA1_ENST00000531382.1_Silent_p.H478H|RPS6KA1_ENST00000374162.2_Silent_p.H377H|RPS6KA1_ENST00000374166.4_Silent_p.H458H NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 469 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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 cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) ATGGCCAGCACCCCAACATCA 0.512000 14 20 0 0 0.003163 0 0 SNCA 6622 broad.mit.edu 37 4 90647782 90647782 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:90647782G>A ENST00000394989.2 - 5 640 c.378C>T c.(376-378)gcC>gcT p.A126A SNCA_ENST00000336904.3_Silent_p.A140A|SNCA_ENST00000420646.2_Silent_p.A112A|SNCA_ENST00000508895.1_Silent_p.A140A|SNCA_ENST00000505199.1_Silent_p.A126A|SNCA_ENST00000394991.3_Silent_p.A140A|SNCA_ENST00000394986.1_Silent_p.A140A|SNCA_ENST00000506244.1_Silent_p.A140A|SNCA_ENST00000345009.4_Silent_p.A112A P37840 SYUA_HUMAN synuclein, alpha (non A4 component of amyloid precursor) 140 activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(4)|ovary(1) 8 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.42e-05) Melatonin(DB01065) ATATTTCTTAGGCTTCAGGTT 0.398000 15 41 0 0 0.001216 0 0 CEP164 22897 broad.mit.edu 37 11 117251344 117251344 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:117251344G>A ENST00000278935.3 + 12 1479 c.1332G>A c.(1330-1332)ctG>ctA p.L444L CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 444 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) AGCAACCACTGGGAATAGAAG 0.537000 5 6 0 0 0.001168 0 0 RYR3 6263 broad.mit.edu 37 15 33842363 33842363 + Nonsense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:33842363G>A ENST00000389232.4 + 10 888 c.818G>A c.(817-819)tGg>tAg p.W273* RYR3_ENST00000415757.3_Nonsense_Mutation_p.W273* NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 273 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) CTGCCCAGCTGGAGTGGCAGT 0.448000 7 14 0 0 0.006214 0 0 VPS39 23339 broad.mit.edu 37 15 42458375 42458375 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:42458375G>A ENST00000318006.5 - 16 1824 c.1662C>T c.(1660-1662)ttC>ttT p.F554F VPS39_ENST00000348544.4_Silent_p.F565F NM_015289.2 NP_056104.2 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 homolog (S. cerevisiae) 565 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) CATCTTCTGGGAAGTCTCTCA 0.498000 22 38 0 0 0.003954 0 0 OR4K5 79317 broad.mit.edu 37 14 20388826 20388826 + Nonsense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:20388826C>T ENST00000315915.4 + 1 86 c.61C>T c.(61-63)Caa>Taa p.Q21* NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGTAGTTCTCAAAAACTCCA 0.393000 17 26 0 0 0.006122 0 0 FGF20 26281 broad.mit.edu 37 8 16850656 16850656 + Silent SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:16850656A>G ENST00000180166.5 - 3 709 c.561T>C c.(559-561)ttT>ttC p.F187F NM_019851.2 NP_062825.1 Q9NP95 FGF20_HUMAN fibroblast growth factor 20 187 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway extracellular region|soluble fraction growth factor activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 11 Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207) AGAAATGTGTAAATTTCTGAT 0.433000 19 14 0 0 0.006122 0 0 USH2A 7399 broad.mit.edu 37 1 215914744 215914744 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:215914744C>T ENST00000366943.2 - 60 12070 c.11684G>A c.(11683-11685)gGa>gAa p.G3895E USH2A_ENST00000307340.3_Missense_Mutation_p.G3895E O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3895 Fibronectin type-III 24. G -> E (in USH2A). 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) GATGATGATTCCATTTGGTTT 0.398000 HNSCC(13;0.011) 33 55 0 0 0.003755 0 0 BAI3 577 broad.mit.edu 37 6 69944926 69944926 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:69944926C>T ENST00000370598.1 + 19 3431 c.2610C>T c.(2608-2610)atC>atT p.I870I BAI3_ENST00000238918.8_Silent_p.I76I NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 870 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ATTCACAGATCATGGAATCCT 0.363000 34 34 0 0 0.002445 0 0 CACNA1G 8913 broad.mit.edu 37 17 48701351 48701351 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:48701351C>T ENST00000352832.5 + 32 6135 c.5763C>T c.(5761-5763)ccC>ccT p.P1921P CACNA1G_ENST00000507896.1_Silent_p.P1944P|CACNA1G_ENST00000429973.2_Silent_p.P1937P|CACNA1G_ENST00000507510.2_Silent_p.P2003P|CACNA1G_ENST00000507609.1_Silent_p.P1948P|CACNA1G_ENST00000360761.4_Silent_p.P1932P|CACNA1G_ENST00000359106.5_Silent_p.P2048P|CACNA1G_ENST00000514717.1_Silent_p.P1898P|CACNA1G_ENST00000514181.1_Silent_p.P1930P|CACNA1G_ENST00000515765.1_Silent_p.P1992P|CACNA1G_ENST00000503485.1_Silent_p.P1921P|CACNA1G_ENST00000514079.1_Silent_p.P1962P|CACNA1G_ENST00000502264.1_Silent_p.P1977P|CACNA1G_ENST00000507336.1_Silent_p.P2037P|CACNA1G_ENST00000513964.1_Silent_p.P1910P|CACNA1G_ENST00000513689.2_Silent_p.P1958P|CACNA1G_ENST00000505165.1_Silent_p.P1955P|CACNA1G_ENST00000510115.1_Silent_p.P1969P|CACNA1G_ENST00000358244.5_Silent_p.P1921P|CACNA1G_ENST00000512389.1_Silent_p.P1944P|CACNA1G_ENST00000354983.4_Silent_p.P2014P|CACNA1G_ENST00000442258.2_Silent_p.P1914P|CACNA1G_ENST00000510366.1_Silent_p.P1903P|CACNA1G_ENST00000515411.1_Silent_p.P1985P|CACNA1G_ENST00000515165.1_Silent_p.P1955P NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 2048 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) ACTCTCTGCCCAATGACAGCT 0.632000 44 24 0 0 0.002522 0 0 TSC2 7249 broad.mit.edu 37 16 2125886 2125886 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:2125886C>T ENST00000219476.3 + 23 3262 c.2632C>T c.(2632-2634)Ccc>Tcc p.P878S TSC2_ENST00000350773.4_Missense_Mutation_p.P878S|TSC2_ENST00000439673.2_Missense_Mutation_p.P841S|TSC2_ENST00000568454.1_Missense_Mutation_p.P889S|TSC2_ENST00000353929.4_Missense_Mutation_p.P878S|TSC2_ENST00000382538.6_Missense_Mutation_p.P829S|TSC2_ENST00000401874.2_Missense_Mutation_p.P878S NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 878 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) GTACACCAACCCCTCCAAGTG 0.662000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 15 17 0 0 0.006122 0 0 CCDC122 160857 broad.mit.edu 37 13 44433893 44433893 + Missense_Mutation SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:44433893T>C ENST00000444614.3 - 5 728 c.470A>G c.(469-471)gAt>gGt p.D157G CCDC122_ENST00000476570.2_5'UTR|CCDC122_ENST00000281508.3_Missense_Mutation_p.D157G NM_144974.3 NP_659411.2 Q5T0U0 CC122_HUMAN coiled-coil domain containing 122 157 endometrium(1)|large_intestine(2)|lung(5)|stomach(1) 9 Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128) TTTAACAAAATCTCGCTTTTC 0.318000 27 41 0 0 0.006320 0 0 INMT 11185 broad.mit.edu 37 7 30795310 30795310 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:30795310C>T ENST00000013222.5 + 3 651 c.635C>T c.(634-636)tCc>tTc p.S212F INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Missense_Mutation_p.S211F NM_001199219.1|NM_006774.4 NP_001186148.1|NP_006765.4 O95050 INMT_HUMAN indolethylamine N-methyltransferase 212 cytoplasm amine N-methyltransferase activity kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1) 23 CGTGAATTTTCCTGCGTGGCC 0.597000 10 16 0 0 0.001368 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74506976 74506976 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:74506976C>T ENST00000354431.4 - 7 1830 c.1639G>A c.(1639-1641)Gag>Aag p.E547K LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E547K NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 547 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 AGGCTTTTCTCTTTTAGGACA 0.308000 34 46 0 0 0.002836 0 0 FMNL2 114793 broad.mit.edu 37 2 153417498 153417498 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:153417498C>T ENST00000288670.9 + 6 912 c.545C>T c.(544-546)cCc>cTc p.P182L NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 182 GBD/FH3. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 AGCAACCTGCCCTCACCTGTG 0.542000 3 5 0 0 0.000602 0 0 EPHA3 2042 broad.mit.edu 37 3 89480431 89480431 + Silent SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:89480431T>C ENST00000336596.2 + 13 2493 c.2268T>C c.(2266-2268)agT>agC p.S756S EPHA3_ENST00000494014.1_Silent_p.S756S NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 756 Protein kinase. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TGATCAACAGTAACTTGGTGT 0.478000 TSP Lung(6;0.00050) 13 22 0 0 0.004007 0 0 OR10Z1 128368 broad.mit.edu 37 1 158577044 158577044 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:158577044G>A ENST00000361284.1 + 1 816 c.816G>A c.(814-816)caG>caA p.Q272Q NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 272 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) AGAGAGATCAGCTTATTGCCA 0.468000 73 113 0 0 0.003610 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47123661 47123661 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:47123661G>A ENST00000290341.3 + 14 1901 c.1567G>A c.(1567-1569)Gta>Ata p.V523I IGF2BP1_ENST00000431824.2_Missense_Mutation_p.V384I NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 523 KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). 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 TGAGGTGGTAGTACCAAGAGA 0.547000 23 32 0 0 0.003954 0 0 EMR1 2015 broad.mit.edu 37 19 6926573 6926573 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:6926573C>T ENST00000312053.4 + 16 2220 c.2183C>T c.(2182-2184)tCt>tTt p.S728F EMR1_ENST00000381407.5_Missense_Mutation_p.S587F|EMR1_ENST00000381404.4_Missense_Mutation_p.S676F|EMR1_ENST00000450315.3_Missense_Mutation_p.S551F|EMR1_ENST00000250572.8_Missense_Mutation_p.S663F NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 728 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) GTGGTGATCTCTGCCAGTGTG 0.512000 27 20 0 0 0.001512 0 0 TRPM4 54795 broad.mit.edu 37 19 49703939 49703939 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:49703939G>A ENST00000252826.5 + 19 2976 c.2850G>A c.(2848-2850)ggG>ggA p.G950G TRPM4_ENST00000427978.2_Silent_p.G805G|TRPM4_ENST00000355712.5_Silent_p.G596G NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 950 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CCACGGAGGGGCTCCTGAGGC 0.612000 10 28 0 0 0.006214 0 0 MMP9 4318 broad.mit.edu 37 20 44639787 44639787 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:44639787C>T ENST00000372330.3 + 5 674 c.655C>T c.(655-657)Cca>Tca p.P219S NM_004994.2 NP_004985.2 P14780 MMP9_HUMAN matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) 219 collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 46 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) TGCAGTGGTTCCAACTCGGTT 0.632000 69 127 0 0 0.003610 0 0 FCRL5 83416 broad.mit.edu 37 1 157512802 157512802 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:157512802C>T ENST00000361835.3 - 6 1127 c.970G>A c.(970-972)Gag>Aag p.E324K FCRL5_ENST00000356953.4_Missense_Mutation_p.E324K|FCRL5_ENST00000368191.3_Missense_Mutation_p.E239K|FCRL5_ENST00000368189.3_Missense_Mutation_p.E324K|FCRL5_ENST00000368190.3_Missense_Mutation_p.E324K NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 324 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GGGACACCCTCATGATAAAAC 0.498000 23 44 0 0 0.001882 0 0 ETV5 2119 broad.mit.edu 37 3 185823650 185823650 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:185823650C>T ENST00000306376.5 - 2 254 c.8G>A c.(7-9)gGg>gAg p.G3E ETV5_ENST00000537818.1_Missense_Mutation_p.G45E|ETV5_ENST00000434744.1_Missense_Mutation_p.G3E|DGKG_ENST00000447054.1_5'UTR NM_004454.2 NP_004445.1 P41161 ETV5_HUMAN ets variant 5 3 cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 28 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) ATCATAAAACCCGTCCATGGT 0.448000 T """TMPRSS2, SCL45A3""" Prostate 9 26 0 0 0.000673 0 0 MGAM 8972 broad.mit.edu 37 7 141750661 141750661 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:141750661G>A ENST00000475668.2 + 24 2856 c.2802G>A c.(2800-2802)ctG>ctA p.L934L MGAM_ENST00000549489.2_Silent_p.L934L O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 934 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ATTCTAACCTGAAGGTAAAAA 0.428000 20 41 0 0 0.001882 0 0 RCC2 55920 broad.mit.edu 37 1 17752038 17752038 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:17752038C>T ENST00000375436.4 - 4 709 c.523_splice c.e4+1 p.W174_splice RCC2_ENST00000375433.3_Splice_Site_p.W174_splice NM_018715.3 NP_061185.1 Q9P258 RCC2_HUMAN regulator of chromosome condensation 2 174 cell division|mitotic prometaphase chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4) 17 Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) GGTACTCACCCCAGCTCCACA 0.627000 4 4 0 0 0.000602 0 0 PCDH10 57575 broad.mit.edu 37 4 134073473 134073473 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:134073473C>T ENST00000264360.4 + 1 3004 c.2178C>T c.(2176-2178)tcC>tcT p.S726S NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 726 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) GCTCGGTGTCCTTCATCTTCC 0.597000 12 32 0 0 0.002450 0 0 NEU3 10825 broad.mit.edu 37 11 74716515 74716515 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:74716515C>T ENST00000294064.4 + 3 1291 c.364C>T c.(364-366)Ccc>Tcc p.P122S NEU3_ENST00000532963.1_Missense_Mutation_p.P51L|NEU3_ENST00000545272.1_Missense_Mutation_p.P13S|NEU3_ENST00000544263.1_Missense_Mutation_p.P89S|NEU3_ENST00000531509.1_Missense_Mutation_p.P122S|NEU3_ENST00000529024.1_Missense_Mutation_p.P51L NM_006656.5 NP_006647.3 A8K327 A8K327_HUMAN sialidase 3 (membrane sialidase) 122 kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 GACCATGAACCCCTGTCCTGT 0.537000 13 10 0 0 0.001368 0 0 DYSF 8291 broad.mit.edu 37 2 71730418 71730418 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:71730418C>T ENST00000258104.3 + 4 588 c.311C>T c.(310-312)cCc>cTc p.P104L DYSF_ENST00000410041.1_Missense_Mutation_p.P105L|DYSF_ENST00000409744.1_Missense_Mutation_p.P105L|DYSF_ENST00000413539.2_Missense_Mutation_p.P104L|DYSF_ENST00000409762.1_Missense_Mutation_p.P104L|DYSF_ENST00000409651.1_Missense_Mutation_p.P105L|DYSF_ENST00000409582.3_Missense_Mutation_p.P104L|DYSF_ENST00000409366.1_Missense_Mutation_p.P105L|DYSF_ENST00000394120.2_Missense_Mutation_p.P105L|DYSF_ENST00000410020.3_Missense_Mutation_p.P105L|DYSF_ENST00000429174.2_Missense_Mutation_p.P104L NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 104 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TTCAATGCCCCCCTGCTGGAC 0.592000 21 49 0 0 0.001523 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450057 105450057 + Missense_Mutation SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:105450057A>G ENST00000337685.2 + 5 1417 c.632A>G c.(631-633)aAg>aGg p.K211R MUM1L1_ENST00000357175.2_Missense_Mutation_p.K211R|MUM1L1_ENST00000372552.1_Missense_Mutation_p.K211R NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 211 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 AACAAGAATAAGATTGATATC 0.383000 12 2 0 0 0.001368 0 0 USP54 159195 broad.mit.edu 37 10 75258871 75258871 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:75258871C>T ENST00000339859.4 - 23 4671 c.4571G>A c.(4570-4572)gGa>gAa p.G1524E USP54_ENST00000394811.2_Missense_Mutation_p.G565E|RP11-137L10.6_ENST00000600887.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.G1524E|USP54_ENST00000422491.2_Missense_Mutation_p.G659E|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595935.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.G1374E|RP11-137L10.6_ENST00000442133.3_RNA Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 1524 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) CAAAGTCCTTCCTGTGTACTT 0.527000 57 112 0 0 0.003610 0 0 PPIP5K1 9677 broad.mit.edu 37 15 43827034 43827034 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:43827034G>A ENST00000420765.1 - 31 4322 c.4140C>T c.(4138-4140)atC>atT p.I1380I PPIP5K1_ENST00000360135.4_Silent_p.I1353I|PPIP5K1_ENST00000360301.4_Silent_p.I1355I|PPIP5K1_ENST00000334933.4_Silent_p.I1355I|PPIP5K1_ENST00000348806.6_Silent_p.I1353I|PPIP5K1_ENST00000381879.4_Silent_p.I1356I|PPIP5K1_ENST00000396923.3_Silent_p.I1380I|PPIP5K1_ENST00000381885.1_Silent_p.I1376I NM_001130858.2 NP_001124330.1 Q6PFW1 VIP1_HUMAN diphosphoinositol pentakisphosphate kinase 1 1380 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity large_intestine(1) 1 GGTATGGCTGGATGACCTCCT 0.527000 32 62 0 0 0.003271 0 0 MLIP 90523 broad.mit.edu 37 6 54066921 54066921 + Missense_Mutation SNP C C T rs138048655 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:54066921C>T ENST00000514921.1 + 11 2688 c.2575C>T c.(2575-2577)Cgc>Tgc p.R859C MLIP_ENST00000509997.1_Missense_Mutation_p.R189C|MLIP_ENST00000370876.2_Missense_Mutation_p.R179C|MLIP_ENST00000370877.2_Missense_Mutation_p.R231C|MLIP_ENST00000274897.5_Missense_Mutation_p.R335C|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000358276.5_Missense_Mutation_p.R235C|MLIP_ENST00000502396.1_Missense_Mutation_p.R870C Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 335 nuclear envelope|PML body protein binding p.R335C(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 TGGAGTAATTCGCCCAGTACC 0.313000 24 7 0 0 0.003954 0 0 ADAR 103 broad.mit.edu 37 1 154574585 154574585 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:154574585G>A ENST00000368474.4 - 2 732 c.533C>T c.(532-534)tCc>tTc p.S178F ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.S221F|ADAR_ENST00000471068.1_5'UTR NM_001111.4|NM_015840.3|NM_015841.3 NP_001102.2|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 178 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) CTTTGCCAGGGAGTATAAAAC 0.517000 42 95 0 0 0.002522 0 0 TOM1 10043 broad.mit.edu 37 22 35742938 35742938 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:35742938G>A ENST00000411850.1 + 14 1425 c.1300G>A c.(1300-1302)Gag>Aag p.E434K TOM1_ENST00000447733.1_Missense_Mutation_p.E401K|TOM1_ENST00000425375.1_Missense_Mutation_p.E389K|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000449058.2_Missense_Mutation_p.E434K|TOM1_ENST00000436462.2_Missense_Mutation_p.E396K NM_001135732.1 NP_001129204.1 O60784 TOM1_HUMAN target of myb1 (chicken) 434 endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2) 19 TGATGCGGAAGAGCCTAAGGG 0.667000 13 43 0 0 0.004990 0 0 SLC12A8 84561 broad.mit.edu 37 3 124837628 124837628 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:124837628G>A ENST00000423114.2 - 8 983 c.984C>T c.(982-984)ttC>ttT p.F328F SLC12A8_ENST00000314584.7_Silent_p.F52F|SLC12A8_ENST00000393469.4_Silent_p.F299F|SLC12A8_ENST00000430155.2_Silent_p.F100F|SLC12A8_ENST00000469902.1_Silent_p.F299F|SLC12A8_ENST00000465475.1_5'UTR A0AV02 S12A8_HUMAN solute carrier family 12, member 8 299 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 CCGCTATCAGGAAGTCATAGC 0.532000 6 7 0 0 0.001984 0 0 BRCC3 79184 broad.mit.edu 37 X 154348417 154348417 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:154348417C>T ENST00000369462.1 + 11 968 c.943C>T c.(943-945)Cta>Tta p.L315L BRCC3_ENST00000330045.7_Silent_p.L290L|BRCC3_ENST00000399042.1_Silent_p.L316L|BRCC3_ENST00000369459.2_Silent_p.L246L|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000340647.4_Silent_p.L291L NM_024332.3 NP_077308.1 P46736 BRCC3_HUMAN BRCA1/BRCA2-containing complex, subunit 3 315 double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1) 22 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ACTTTCTTCTCTAGAATAAAT 0.403000 49 16 0 0 0.003610 0 0 UBR1 197131 broad.mit.edu 37 15 43367225 43367225 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:43367225G>A ENST00000290650.4 - 4 558 c.480C>T c.(478-480)ggC>ggT p.G160G UBR1_ENST00000382177.2_Silent_p.G160G NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 160 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) CACAAAAAGGGCCAGTTTTCC 0.363000 76 146 0 0 0.003610 0 0 TMEM67 91147 broad.mit.edu 37 8 94798460 94798460 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:94798460C>T ENST00000453321.3 + 13 1356 c.1298C>T c.(1297-1299)tCt>tTt p.S433F TMEM67_ENST00000409623.3_Missense_Mutation_p.S352F NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 433 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) GACAGCAACTCTGGAAAGTGG 0.348000 12 33 0 0 0.004007 0 0 PVRL3 25945 broad.mit.edu 37 3 110852746 110852746 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:110852746C>T ENST00000485303.1 + 6 1609 c.1334C>T c.(1333-1335)cCa>cTa p.P445L PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR NM_001243286.1|NM_015480.2 NP_001230215.1|NP_056295.1 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 445 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3) 19 AACTACATTCCACCATCAGAT 0.388000 23 33 0 0 0.002299 0 0 DUSP22 56940 broad.mit.edu 37 6 350831 350831 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:350831G>A ENST00000344450.5 + 8 961 c.518G>A c.(517-519)gGa>gAa p.G173E DUSP22_ENST00000604971.1_3'UTR|DUSP22_ENST00000419235.2_3'UTR NM_020185.3 NP_064570.1 Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 173 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) GCCGCTCCGGGAATTCTGAAG 0.403000 31 115 0 0 0.003271 0 0 MROH9 80133 broad.mit.edu 37 1 170967484 170967484 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:170967484C>T ENST00000367758.3 + 15 1764 c.1665C>T c.(1663-1665)ttC>ttT p.F555F MROH9_ENST00000367759.4_Intron NM_025063.2 NP_079339.2 maestro heat-like repeat family member 9 AATCAAAATTCCAGTTTCTCG 0.383000 16 24 0 0 0.006122 0 0 CCDC9 26093 broad.mit.edu 37 19 47773841 47773841 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:47773841C>T ENST00000221922.6 + 10 1203 c.981C>T c.(979-981)ccC>ccT p.P327P NM_015603.2 NP_056418.1 Q9Y3X0 CCDC9_HUMAN coiled-coil domain containing 9 327 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 12 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) CCCCGAAGCCCCCTACTTTTG 0.647000 14 41 0 0 0.004007 0 0 GPR35 2859 broad.mit.edu 37 2 241569905 241569905 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:241569905G>A ENST00000319838.5 + 6 1478 c.536G>A c.(535-537)gGa>gAa p.G179E GPR35_ENST00000430267.1_Missense_Mutation_p.G179E|GPR35_ENST00000438013.2_Missense_Mutation_p.G210E|GPR35_ENST00000407714.1_Missense_Mutation_p.G179E|GPR35_ENST00000403859.1_Missense_Mutation_p.G179E NM_001195381.1 NP_001182310.1 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 179 integral to plasma membrane G-protein coupled receptor activity NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 17 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) CCGCTGCTGGGATTCTACCTG 0.667000 12 29 0 0 0.001855 0 0 CEP78 84131 broad.mit.edu 37 9 80881427 80881427 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:80881427C>T ENST00000424347.2 + 15 2156 c.1867C>T c.(1867-1869)Cca>Tca p.P623S CEP78_ENST00000415759.2_Missense_Mutation_p.P624S|CEP78_ENST00000376597.4_Missense_Mutation_p.P640S|CEP78_ENST00000376598.2_Missense_Mutation_p.P639S|CEP78_ENST00000277082.5_Missense_Mutation_p.P623S Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa 623 G2/M transition of mitotic cell cycle centrosome|cytosol breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 21 AGTTTCTACTCCAGAGGGCTT 0.438000 18 36 0 0 0.001523 0 0 SHROOM3 57619 broad.mit.edu 37 4 77660467 77660467 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:77660467G>A ENST00000296043.6 + 5 2094 c.1141G>A c.(1141-1143)Ggt>Agt p.G381S NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 381 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) TCCTAAGGTGGGTGCACCCCT 0.617000 20 22 0 0 0.007413 0 0 PCLO 27445 broad.mit.edu 37 7 82474693 82474693 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:82474693C>T ENST00000423517.2 - 13 14277 c.13940G>A c.(13939-13941)gGa>gAa p.G4647E PCLO_ENST00000333891.8_Missense_Mutation_p.G4647E|PCLO_ENST00000426442.2_5'UTR NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4535 C2 1. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AACATGAGATCCTTTTTCAAC 0.532000 9 20 0 0 0.006214 0 0 OR52I2 143502 broad.mit.edu 37 11 4608931 4608931 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:4608931G>A ENST00000312614.4 + 1 911 c.889G>A c.(889-891)Gat>Aat p.D297N NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GTTGGGGCAGGATGTAGTGCC 0.512000 34 41 0 0 0.004878 0 0 C11orf30 56946 broad.mit.edu 37 11 76256911 76256911 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:76256911C>T ENST00000529032.1 + 19 3344 c.3344C>T c.(3343-3345)aCa>aTa p.T1115I C11orf30_ENST00000533248.1_Missense_Mutation_p.T1024I|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000524490.1_Missense_Mutation_p.T1017I|C11orf30_ENST00000334736.3_Missense_Mutation_p.T1115I|C11orf30_ENST00000525919.1_Missense_Mutation_p.T1116I|C11orf30_ENST00000524767.1_Missense_Mutation_p.T1130I|C11orf30_ENST00000525038.1_Missense_Mutation_p.T1116I Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 1115 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 CAGCCTCCCACAGTTACAAAG 0.463000 11 31 0 0 0.001368 0 0 SNCA 6622 broad.mit.edu 37 4 90647783 90647783 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:90647783G>A ENST00000394989.2 - 5 639 c.377C>T c.(376-378)gCc>gTc p.A126V SNCA_ENST00000336904.3_Missense_Mutation_p.A140V|SNCA_ENST00000420646.2_Missense_Mutation_p.A112V|SNCA_ENST00000508895.1_Missense_Mutation_p.A140V|SNCA_ENST00000505199.1_Missense_Mutation_p.A126V|SNCA_ENST00000394991.3_Missense_Mutation_p.A140V|SNCA_ENST00000394986.1_Missense_Mutation_p.A140V|SNCA_ENST00000506244.1_Missense_Mutation_p.A140V|SNCA_ENST00000345009.4_Missense_Mutation_p.A112V P37840 SYUA_HUMAN synuclein, alpha (non A4 component of amyloid precursor) 140 activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(4)|ovary(1) 8 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.42e-05) Melatonin(DB01065) TATTTCTTAGGCTTCAGGTTC 0.403000 16 41 0 0 0.001523 0 0 SLC2A8 29988 broad.mit.edu 37 9 130167182 130167182 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:130167182C>T ENST00000373371.3 + 8 1151 c.1062C>T c.(1060-1062)gcC>gcT p.A354A SLC2A8_ENST00000373360.3_Silent_p.A354A|SLC2A8_ENST00000485806.1_3'UTR|SLC2A8_ENST00000373352.1_Silent_p.A91A NM_001271712.1|NM_014580.3 NP_001258641.1|NP_055395.2 Q9NY64 GTR8_HUMAN solute carrier family 2 (facilitated glucose transporter), member 8 354 cytoplasmic vesicle membrane|integral to plasma membrane D-glucose transmembrane transporter activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1) 11 CGCACGTGGCCATCTCGGCGC 0.667000 16 23 0 0 0.004007 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162491 90162491 + RNA SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:90162491C>T ENST00000564451.1 + 0 1844 TUBB8P7_ENST00000567960.1_RNA ATGGAATTCACCGAGGCCGAG 0.537000 16 73 0 0 0.006122 0 0 EDNRA 1909 broad.mit.edu 37 4 148453693 148453693 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:148453693G>A ENST00000324300.5 + 4 1099 c.584G>A c.(583-585)gGa>gAa p.G195E EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000506066.1_Intron|EDNRA_ENST00000339690.5_Silent_p.G152G|EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000511804.1_5'UTR NM_001957.3 NP_001948.1 P25101 EDNRA_HUMAN endothelin receptor type A 195 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) CGTGTTCAGGGAATTGGGATT 0.418000 31 65 0 0 0.002836 0 0 FAM9C 171484 broad.mit.edu 37 X 13061897 13061897 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:13061897C>T ENST00000542843.1 - 2 222 c.12G>A c.(10-12)aaG>aaA p.K4K FAM9C_ENST00000380625.3_Silent_p.K4K|FAM9C_ENST00000333995.3_Silent_p.K4K Q8IZT9 FAM9C_HUMAN family with sequence similarity 9, member C 4 nucleus NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1) 5 CCAACTGGTCCTTGGCAGCCA 0.592000 7 2 0 0 0.003080 0 0 MYH8 4626 broad.mit.edu 37 17 10309360 10309360 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:10309360C>T ENST00000403437.2 - 21 2524 c.2430G>A c.(2428-2430)agG>agA p.R810R CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 810 IQ. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 ATTGTTACCTCCTTTGCAACA 0.343000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 21 19 0 0 0.003330 0 0 SLC6A17 388662 broad.mit.edu 37 1 110738249 110738249 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:110738249G>A ENST00000331565.4 + 10 2019 c.1534G>A c.(1534-1536)Gtc>Atc p.V512I NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 512 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity p.F511_R514del(1) breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) GCTGTTGTTCGTCCAGCGCTC 0.602000 17 31 0 0 0.004990 0 0 UTP20 27340 broad.mit.edu 37 12 101748767 101748767 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:101748767C>T ENST00000261637.4 + 41 5439 c.5265C>T c.(5263-5265)tcC>tcT p.S1755S NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 1755 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 CTAAAGAATCCGAGTGTATCA 0.433000 10 24 0 0 0.000673 0 0 CA6 765 broad.mit.edu 37 1 9011534 9011534 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:9011534G>A ENST00000319474.2 + 3 336 c.312G>A c.(310-312)ggG>ggA p.G104G CA6_ENST00000377442.2_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377443.2_Intron|CA6_ENST00000377436.3_Intron P23280 CAH6_HUMAN carbonic anhydrase VI 102 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|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;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) GTGGAGAAGGGGCGAAGCACA 0.527000 8 19 0 0 0.006214 0 0 FCGBP 8857 broad.mit.edu 37 19 40424301 40424301 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:40424301C>T ENST00000221347.6 - 4 1909 c.1902G>A c.(1900-1902)gtG>gtA p.V634V NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 634 VWFD 1. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TTGCGAACTCCACAGCGTCAG 0.607000 48 80 0 0 0.003610 0 0 MPDZ 8777 broad.mit.edu 37 9 13150678 13150678 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:13150678G>A ENST00000319217.7 - 25 3709 c.3462C>T c.(3460-3462)ctC>ctT p.L1154L MPDZ_ENST00000381022.2_Silent_p.L1154L|MPDZ_ENST00000381015.4_Silent_p.L1154L|MPDZ_ENST00000447879.1_Silent_p.L1154L|MPDZ_ENST00000536827.1_Silent_p.L1154L|MPDZ_ENST00000546205.1_Silent_p.L1168L|MPDZ_ENST00000538841.1_Silent_p.L46L|MPDZ_ENST00000541718.1_Silent_p.L1154L NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1154 PDZ 7. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) GTTCTCTCCAGAGTTCCACCC 0.388000 5 7 0 0 0.000602 0 0 ZNF335 63925 broad.mit.edu 37 20 44594306 44594306 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:44594306G>A ENST00000322927.2 - 7 1163 c.1063C>T c.(1063-1065)Cgg>Tgg p.R355W ZNF335_ENST00000426788.1_Missense_Mutation_p.R200W NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 355 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) GGCAGCTTCCGGGGCCGGCCA 0.677000 19 23 0 0 0.007413 0 0 OMA1 115209 broad.mit.edu 37 1 58946769 58946769 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:58946769C>T ENST00000371226.3 - 9 1556 c.1443G>A c.(1441-1443)acG>acA p.T481T DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Intron NM_145243.3 NP_660286.1 Q96E52 OMA1_HUMAN OMA1 zinc metallopeptidase 481 proteolysis integral to membrane|mitochondrial membrane metal ion binding|metalloendopeptidase activity p.T481T(1) NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1) 18 all_cancers(7;6.54e-05) GAAAATGCTTCGTGCTGAGTT 0.333000 25 30 0 0 0.003954 0 0 DNAH3 55567 broad.mit.edu 37 16 21042461 21042461 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:21042461G>A ENST00000261383.3 - 37 5344 c.5345C>T c.(5344-5346)tCa>tTa p.S1782L DNAH3_ENST00000415178.1_Missense_Mutation_p.S1782L NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1782 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ATCAGAGAGTGAAGACGCTTG 0.463000 17 32 0 0 0.006122 0 0 SAG 6295 broad.mit.edu 37 2 234237135 234237135 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:234237135G>A ENST00000409110.1 + 8 754 c.524G>A c.(523-525)cGa>cAa p.R175Q SAG_ENST00000449594.2_Missense_Mutation_p.R41Q NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 175 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) AGCTCCGTGCGATTACTGATC 0.592000 28 45 0 0 0.003755 0 0 CHD5 26038 broad.mit.edu 37 1 6203991 6203991 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:6203991C>T ENST00000262450.3 - 13 2034 c.1934_splice c.e13-1 p.R645_splice CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 645 Chromo 2. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GCATCAGCTCCCTGGGAAACG 0.652000 29 44 0 0 0.001512 0 0 ZNF676 163223 broad.mit.edu 37 19 22362994 22362994 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:22362994C>T ENST00000397121.2 - 3 1842 c.1525G>A c.(1525-1527)Gaa>Aaa p.E509K NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTGCCACATTCTTCACATTTG 0.388000 11 13 0 0 0.000673 0 0 ZNF831 128611 broad.mit.edu 37 20 57828080 57828080 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:57828080C>T ENST00000371030.2 + 4 4075 c.4075C>T c.(4075-4077)Cct>Tct p.P1359S NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1359 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AGAATCACCTCCTTGTTGTGG 0.448000 13 22 0 0 0.001368 0 0 OR8J3 81168 broad.mit.edu 37 11 55904565 55904565 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:55904565G>A ENST00000301529.1 - 1 629 c.630C>T c.(628-630)tcC>tcT p.S210S NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) CTGTAATCATGGAAAAAACCA 0.358000 22 49 0 0 0.001882 0 0 ROS1 6098 broad.mit.edu 37 6 117737455 117737455 + Missense_Mutation SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:117737455T>C ENST00000368508.3 - 3 392 c.194A>G c.(193-195)aAc>aGc p.N65S ROS1_ENST00000368507.3_Missense_Mutation_p.N65S|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 65 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ATCTACAGAGTTCCAAAAGTG 0.338000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 10 10 0 0 0.002450 0 0 ZNF425 155054 broad.mit.edu 37 7 148801972 148801972 + Nonsense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:148801972G>A ENST00000378061.2 - 4 1123 c.991C>T c.(991-993)Cag>Tag p.Q331* NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 331 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TGCGGACACTGGAAGGGCTTC 0.672000 8 15 0 0 0.003080 0 0 TEX11 56159 broad.mit.edu 37 X 69774522 69774522 + Missense_Mutation SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:69774522T>C ENST00000395889.2 - 27 2469 c.2314A>G c.(2314-2316)Aaa>Gaa p.K772E TEX11_ENST00000374333.2_Missense_Mutation_p.K757E|TEX11_ENST00000344304.3_Missense_Mutation_p.K772E|TEX11_ENST00000374320.2_Missense_Mutation_p.K447E NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 772 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) TCAAAAGTTTTAGTTTCTAAA 0.363000 8 5 0 0 0.004482 0 0 HADHB 3032 broad.mit.edu 37 2 26501646 26501646 + Nonsense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:26501646C>T ENST00000317799.5 + 8 711 c.607C>T c.(607-609)Cga>Tga p.R203* HADHB_ENST00000405867.3_Intron|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000545822.1_Nonsense_Mutation_p.R181*|HADHB_ENST00000537713.1_Nonsense_Mutation_p.R188* NM_000183.2 NP_000174.1 P55084 ECHB_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit 203 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCTAAATTCCGATTTAATTT 0.438000 16 44 0 0 0.007413 0 0 ZNF792 126375 broad.mit.edu 37 19 35449497 35449497 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:35449497G>A ENST00000404801.1 - 4 1648 c.1262C>T c.(1261-1263)cCt>cTt p.P421L ZNF792_ENST00000605484.1_Missense_Mutation_p.P354L NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 421 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) ACACTTGTAAGGTCTTTCTCC 0.483000 11 32 0 0 0.001368 0 0 DROSHA 29102 broad.mit.edu 37 5 31405818 31405818 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:31405818C>T ENST00000511367.2 - 34 4204 c.3960G>A c.(3958-3960)gcG>gcA p.A1320A DROSHA_ENST00000442743.1_Silent_p.A1283A|DROSHA_ENST00000513349.1_Silent_p.A1283A|DROSHA_ENST00000344624.3_Silent_p.A1320A NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 1320 DRBM.|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 CTCCCATTTCCGCTTGCTGAA 0.269000 4 2 0 0 0.001168 0 0 SKIDA1 387640 broad.mit.edu 37 10 21806505 21806505 + Missense_Mutation SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:21806505T>C ENST00000449193.2 - 4 2499 c.247A>G c.(247-249)Atc>Gtc p.I83V SKIDA1_ENST00000444772.3_Missense_Mutation_p.I83V NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 TCCCGGGAGATGAGCGTGCAT 0.597000 9 9 0 0 0.004482 0 0 FAM135B 51059 broad.mit.edu 37 8 139144922 139144922 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:139144922C>T ENST00000395297.1 - 20 4305 c.4135G>A c.(4135-4137)Ggc>Agc p.G1379S NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1379 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCGGCTCGGCCGATCAGGGTG 0.542000 HNSCC(54;0.14) 61 191 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179605281 179605281 + Missense_Mutation SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179605281T>C ENST00000589042.1 - 48 12903 c.12679A>G c.(12679-12681)Acc>Gcc p.T4227A TTN_ENST00000342175.6_Missense_Mutation_p.T4056A|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.T3989A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T3864A|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T3910A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3910 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) GCCACAGAGGTTAGATAAGAA 0.393000 19 33 0 0 0.001216 0 0 CHMP1A 5119 broad.mit.edu 37 16 89712397 89712397 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:89712397G>A ENST00000253475.5 - 6 780 c.648C>T c.(646-648)tgC>tgT p.C216C CHMP1A_ENST00000535997.2_3'UTR|CHMP1A_ENST00000550102.1_3'UTR|CHMP1A_ENST00000397901.3_3'UTR NM_001083314.2 NP_001076783.1 Q9HD42 CHM1A_HUMAN charged multivesicular body protein 1A 0 cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix metallopeptidase activity|protein domain specific binding|zinc ion binding endometrium(1)|large_intestine(1)|ovary(1) 3 all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.048) CAGCACAAAGGCAAGACGCGG 0.662000 14 23 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179440199 179440199 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179440199G>A ENST00000589042.1 - 326 70884 c.70660C>T c.(70660-70662)Cct>Tct p.P23554S TTN_ENST00000342175.6_Missense_Mutation_p.P14681S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P20986S|TTN_ENST00000359218.5_Missense_Mutation_p.P14614S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P14489S|TTN_ENST00000591111.1_Missense_Mutation_p.P21913S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21913 Ig-like 119. 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) TTGGGCTTAGGCCATGCCAGG 0.507000 63 119 0 0 0.003610 0 0 PIM3 415116 broad.mit.edu 37 22 50356710 50356710 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:50356710C>T ENST00000360612.4 + 6 1351 c.916C>T c.(916-918)Ctg>Ttg p.L306L NM_001001852.3 NP_001001852.2 Q86V86 PIM3_HUMAN pim-3 oncogene 306 cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle ATP binding|protein binding|protein serine/threonine kinase activity all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247) GAGCTGTGACCTGCGGCTGTG 0.682000 4 11 0 0 0.000602 0 0 TIGIT 201633 broad.mit.edu 37 3 114026783 114026783 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:114026783G>A ENST00000481065.1 + 5 3356 c.741G>A c.(739-741)agG>agA p.R247R TIGIT_ENST00000496848.1_3'UTR|TIGIT_ENST00000486257.1_Silent_p.R180R|TIGIT_ENST00000383671.3_Silent_p.R180R Q495A1 TIGIT_HUMAN T cell immunoreceptor with Ig and ITIM domains 180 negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1) 17 GTGACCTCAGGAGAAAATCAG 0.512000 21 36 0 0 0.001882 0 0 KIF17 57576 broad.mit.edu 37 1 21011438 21011438 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:21011438C>T ENST00000247986.2 - 10 2405 c.2095G>A c.(2095-2097)Gcc>Acc p.A699T KIF17_ENST00000375044.1_Missense_Mutation_p.A599T|KIF17_ENST00000400463.3_Missense_Mutation_p.A699T|KIF17_ENST00000490034.1_5'UTR Q9P2E2 KIF17_HUMAN kinesin family member 17 699 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) GCCACCGGGGCCTGAGCCTCC 0.647000 3 6 0 0 0.004672 0 0 FPR3 2359 broad.mit.edu 37 19 52327119 52327119 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:52327119G>A ENST00000339223.4 + 2 297 c.118G>A c.(118-120)Ggg>Agg p.G40R FPR3_ENST00000595991.1_Missense_Mutation_p.G40R NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 40 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 CTTTGTCTTCGGGGTCCTGGG 0.552000 22 51 0 0 0.002299 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144864142 144864142 + Missense_Mutation SNP C C T rs139404785 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:144864142C>T ENST00000369359.4 - 39 6399 c.6361G>A c.(6361-6363)Gac>Aac p.D2121N PDE4DIP_ENST00000369354.3_Missense_Mutation_p.D1985N|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.D1985N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.D1879N|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.D2070N Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1985 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TACCTGGAGTCGTTTTCCTGG 0.468000 T PDGFRB MPD 64 524 0 0 0.003610 0 0 RAB5B 5869 broad.mit.edu 37 12 56385937 56385937 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:56385937C>T ENST00000360299.5 + 6 810 c.589C>T c.(589-591)Cgg>Tgg p.R197W RAB5B_ENST00000553116.1_Missense_Mutation_p.R197W|RAB5B_ENST00000448789.2_Missense_Mutation_p.R156W NM_002868.3 NP_002859.1 P61020 RAB5B_HUMAN RAB5B, member RAS oncogene family 197 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|membrane fraction|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1) 9 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235) AGGCCGAAGCCGGGGTGTGGA 0.493000 18 50 0 0 0.002780 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12943141 12943141 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:12943141C>T ENST00000235349.5 - 2 145 c.75G>A c.(73-75)ttG>ttA p.L25L NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 25 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGGACATGGCCAAAGCTTGGT 0.582000 49 91 0 0 0.003610 0 0 LELP1 149018 broad.mit.edu 37 1 153177279 153177279 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:153177279G>A ENST00000368747.1 + 2 206 c.96G>A c.(94-96)caG>caA p.Q32Q NM_001010857.1 NP_001010857.1 Q5T871 LELP1_HUMAN late cornified envelope-like proline-rich 1 32 Cys/Pro-rich. NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1) 19 all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCAAATGCCAGCCCAGCTGTT 0.498000 24 38 0 0 0.003330 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19285377 19285377 + Missense_Mutation SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:19285377T>C ENST00000538714.1 + 3 224 c.220T>C c.(220-222)Tat>Cat p.Y74H PLEKHA5_ENST00000429027.2_Missense_Mutation_p.Y74H|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.Y74H|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.Y74H|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.Y74H|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000540972.1_Missense_Mutation_p.Y74H|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.Y74H|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.Y74H NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 74 WW 2. 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) TGCAAGATACTATATAAAGTG 0.313000 40 40 0 0 0.001951 0 0 MS4A4E 643680 broad.mit.edu 37 11 59997465 59997465 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:59997465C>T ENST00000528394.1 - 1 63 c.64G>A c.(64-66)Gga>Aga p.G22R MS4A4E_ENST00000425663.1_Missense_Mutation_p.G22R|MS4A4E_ENST00000427611.2_5'UTR|MS4A4E_ENST00000398986.2_Missense_Mutation_p.G22R|MS4A4E_ENST00000398984.2_Missense_Mutation_p.G22R|MS4A4E_ENST00000526086.1_Missense_Mutation_p.G22R membrane-spanning 4-domains, subfamily A, member 4E ovary(1) 1 TCTATGTTTCCCAGCTGGGGC 0.443000 8 21 0 0 0.004482 0 0 SLC12A8 84561 broad.mit.edu 37 3 124826509 124826509 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:124826509C>T ENST00000423114.2 - 10 1607 c.1608G>A c.(1606-1608)ttG>ttA p.L536L SLC12A8_ENST00000314584.7_Silent_p.L260L|SLC12A8_ENST00000393469.4_Silent_p.L507L|SLC12A8_ENST00000430155.2_Silent_p.L308L|SLC12A8_ENST00000469902.1_Silent_p.L507L|SLC12A8_ENST00000465475.1_5'UTR A0AV02 S12A8_HUMAN solute carrier family 12, member 8 507 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 ATTTGAGGTCCAAGAGGAAGC 0.562000 34 52 0 0 0.003271 0 0 GPR141 353345 broad.mit.edu 37 7 37780295 37780295 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:37780295C>T ENST00000447769.1 + 4 589 c.300C>T c.(298-300)taC>taT p.Y100Y GPR141_ENST00000334425.1_Silent_p.Y100Y|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron Q7Z602 GP141_HUMAN G protein-coupled receptor 141 100 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TCCACATGTACCTCACGTTCC 0.463000 22 33 0 0 0.001882 0 0 CACNB2 783 broad.mit.edu 37 10 18828384 18828384 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:18828384G>A ENST00000396576.2 + 13 2050 c.1549G>A c.(1549-1551)Gaa>Aaa p.E517K CACNB2_ENST00000324631.7_Missense_Mutation_p.E572K|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Missense_Mutation_p.E524K|CACNB2_ENST00000377329.4_Missense_Mutation_p.E518K|CACNB2_ENST00000377319.3_Missense_Mutation_p.E479K|CACNB2_ENST00000352115.6_Missense_Mutation_p.E548K|CACNB2_ENST00000377331.2_Missense_Mutation_p.E520K|CACNB2_ENST00000377328.1_Missense_Mutation_p.E322K|CACNB2_ENST00000282343.8_Missense_Mutation_p.E544K NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 572 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AGAGCCAAAGGAAGATTATTC 0.567000 6 9 0 0 0.001168 0 0 FLG 2312 broad.mit.edu 37 1 152284875 152284875 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:152284875G>A ENST00000368799.1 - 3 2522 c.2487C>T c.(2485-2487)tcC>tcT p.S829S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 829 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGAGTGCCTGGAGTTGTCTC 0.567000 Ichthyosis 63 135 0 0 0.003610 0 0 GYS1 2997 broad.mit.edu 37 19 49473059 49473059 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:49473059G>A ENST00000323798.3 - 15 2059 c.1863C>T c.(1861-1863)ttC>ttT p.F621F GYS1_ENST00000544287.1_Silent_p.F254F|GYS1_ENST00000541188.1_Silent_p.F541F|GYS1_ENST00000263276.6_Silent_p.F557F NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 621 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) GCTCGTAGGTGAAGTGCTCTG 0.622000 15 23 0 0 0.004990 0 0 GCN1L1 10985 broad.mit.edu 37 12 120602154 120602154 + Missense_Mutation SNP G G C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:120602154G>C ENST00000300648.6 - 18 1846 c.1834C>G c.(1834-1836)Ctc>Gtc p.L612V NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 612 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGAGAACTGAGGACAGTCTTC 0.592000 21 36 0 0 0.002780 0 0 MRPS31 10240 broad.mit.edu 37 13 41323282 41323282 + Missense_Mutation SNP T T A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:41323282T>A ENST00000323563.6 - 6 986 c.950A>T c.(949-951)aAt>aTt p.N317I MRPS31_ENST00000498078.1_5'UTR NM_005830.3 NP_005821.2 Q92665 RT31_HUMAN mitochondrial ribosomal protein S31 317 mitochondrion|ribosome protein domain specific binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) ACCTGCTTCATTGTTAATTGG 0.358000 30 48 0 0 0.002445 0 0 HKDC1 80201 broad.mit.edu 37 10 71020985 71020985 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:71020985G>A ENST00000354624.5 + 16 2440 c.2307G>A c.(2305-2307)ggG>ggA p.G769G HKDC1_ENST00000395086.2_Silent_p.G769G NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 769 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 TCTTCCGAGGGCAGATTTCAG 0.532000 13 24 0 0 0.001855 0 0 PCLO 27445 broad.mit.edu 37 7 82474694 82474694 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:82474694C>T ENST00000423517.2 - 13 14276 c.13939G>A c.(13939-13941)Gga>Aga p.G4647R PCLO_ENST00000333891.8_Missense_Mutation_p.G4647R|PCLO_ENST00000426442.2_5'UTR NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4535 C2 1. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ACATGAGATCCTTTTTCAACA 0.532000 9 20 0 0 0.006214 0 0 GATA1 2623 broad.mit.edu 37 X 48650336 48650336 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:48650336G>A ENST00000376670.3 + 3 417 c.306G>A c.(304-306)ggG>ggA p.G102G GATA1_ENST00000376665.3_Silent_p.G102G NM_002049.3 NP_002040.1 P15976 GATA1_HUMAN GATA binding protein 1 (globin transcription factor 1) 102 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(2)|p.V77_A120>A(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1) 283 GCAAGACGGGGCTCTACCCTG 0.607000 """Mis, F""" megakaryoblastic leukemia of Downs Syndrome 14 4 0 0 0.001855 0 0 CHRNB4 1143 broad.mit.edu 37 15 78923471 78923471 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:78923471G>A ENST00000261751.3 - 4 417 c.306C>T c.(304-306)atC>atT p.I102I CHRNB4_ENST00000560511.1_5'UTR|CHRNB4_ENST00000412074.2_Silent_p.I102I NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 102 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 GGATCCTCAGGATGTTCACAC 0.587000 13 38 0 0 0.006122 0 0 FAM135B 51059 broad.mit.edu 37 8 139160883 139160883 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:139160883C>T ENST00000395297.1 - 14 3498 c.3328G>A c.(3328-3330)Gga>Aga p.G1110R NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1110 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TACAGAAATCCTTCAATCTTC 0.358000 HNSCC(54;0.14) 9 20 0 0 0.000673 0 0 IGF1 3479 broad.mit.edu 37 12 102811752 102811752 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:102811752C>T ENST00000456098.1 - 4 650 c.432G>A c.(430-432)acG>acA p.T144T IGF1_ENST00000424202.2_Intron|IGF1_ENST00000392904.1_Silent_p.T144T|IGF1_ENST00000337514.6_Intron|IGF1_ENST00000307046.8_Silent_p.T144T NM_001111283.1 NP_001104753.1 P05019 IGF1_HUMAN insulin-like growth factor 1 (somatomedin C) 144 anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration platelet alpha granule lumen growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1) 11 TCTGAGACTTCGTGTTCTTGT 0.463000 47 82 0 0 0.002522 0 0 ANK3 288 broad.mit.edu 37 10 61834949 61834949 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:61834949G>A ENST00000280772.1 - 37 5881 c.5690C>T c.(5689-5691)tCc>tTc p.S1897F ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1897 Ser-rich. 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 CTCCTGACTGGAAGATAAAGA 0.448000 29 32 0 0 0.007291 0 0 MTR 4548 broad.mit.edu 37 1 237016305 237016305 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:237016305C>T ENST00000366577.5 + 18 2264 c.1870C>T c.(1870-1872)Cat>Tat p.H624Y MTR_ENST00000535889.1_Missense_Mutation_p.H624Y NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 624 Pterin-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) TGATGATATCCATAAGGAACT 0.433000 12 48 0 0 0.000978 0 0 TTN 7273 broad.mit.edu 37 2 179582901 179582901 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179582901C>T ENST00000589042.1 - 86 25056 c.24832G>A c.(24832-24834)Gga>Aga p.G8278R TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7034R|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G7961R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7961 Ig-like 65. 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) GCAGGTTCTCCAATGACTGCT 0.408000 20 16 0 0 0.001216 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974679 21974679 + Nonsense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:21974679G>A ENST00000304494.5 - 1 418 c.148C>T c.(148-150)Cag>Tag p.Q50* CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.Q50* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 50 Q -> R (in CMM2). 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.?(25)|p.Q50*(4)|p.0(1)|p.V28_V51del(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) CTACCCACCTGGATCGGCCTC 0.682000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 91 81 0 0 0.003610 0 0 PROX1 5629 broad.mit.edu 37 1 214170566 214170566 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:214170566G>A ENST00000366958.4 + 2 1296 c.688G>A c.(688-690)Gaa>Aaa p.E230K PROX1_ENST00000261454.4_Missense_Mutation_p.E230K|PROX1_ENST00000498508.2_Missense_Mutation_p.E230K|PROX1_ENST00000435016.1_Missense_Mutation_p.E230K NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 230 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) AGCCCGAAAAGAACAGAAGCG 0.517000 11 21 0 0 0.001368 0 0 MYO7A 4647 broad.mit.edu 37 11 76910695 76910695 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:76910695G>A ENST00000409709.3 + 35 4956 c.4684G>A c.(4684-4686)Gga>Aga p.G1562R MYO7A_ENST00000409619.2_Splice_Site_p.G1513_splice|MYO7A_ENST00000458637.2_Splice_Site_p.G1524_splice NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1562 FERM 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GTCCTGCAGGGGAGCGAAAAC 0.632000 6 6 0 0 0.001984 0 0 RYR1 6261 broad.mit.edu 37 19 38990623 38990623 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:38990623C>T ENST00000355481.4 + 45 7421 c.7290C>T c.(7288-7290)atC>atT p.I2430I RYR1_ENST00000359596.3_Silent_p.I2430I|RYR1_ENST00000360985.3_Silent_p.I2430I NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2430 6 X approximate repeats. 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) CCGCCTTGATCGACCTGCTCG 0.612000 11 20 0 0 0.001855 0 0 SDK2 54549 broad.mit.edu 37 17 71431638 71431638 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:71431638G>A ENST00000392650.3 - 9 1146 c.1146C>T c.(1144-1146)gcC>gcT p.A382A SDK2_ENST00000388726.3_Silent_p.A382A NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 382 Ig-like C2-type 4. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 CTGCATTGCGGGCGAAGCACT 0.642000 4 7 0 0 0.001168 0 0 COL6A5 256076 broad.mit.edu 37 3 130095498 130095498 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:130095498G>A ENST00000265379.6 + 3 980 c.486G>A c.(484-486)gtG>gtA p.V162V COL6A5_ENST00000432398.2_Silent_p.V162V A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 162 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 AAGACGGGGTGAAAATTATCT 0.507000 5 7 0 0 0.001168 0 0 TTLL11 158135 broad.mit.edu 37 9 124794087 124794087 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:124794087G>A ENST00000321582.5 - 3 1065 c.878C>T c.(877-879)aCc>aTc p.T293I TTLL11_ENST00000373776.3_Missense_Mutation_p.T293I|TTLL11_ENST00000474723.1_Intron NM_001139442.1 NP_001132914.1 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 293 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1) 18 ATTCTGCATGGTTCTCACTGC 0.498000 20 48 0 0 0.001882 0 0 INPP5D 3635 broad.mit.edu 37 2 234072371 234072371 + Missense_Mutation SNP A A C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:234072371A>C ENST00000359570.5 + 14 1223 c.1223A>C c.(1222-1224)aAg>aCg p.K408T INPP5D_ENST00000455936.2_Missense_Mutation_p.K172T|INPP5D_ENST00000450745.1_Missense_Mutation_p.K172T|INPP5D_ENST00000538935.1_Missense_Mutation_p.K407T Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 420 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CCCCCTCCCAAGAAGATCACG 0.537000 39 49 0 0 0.003610 0 0 TNFSF14 8740 broad.mit.edu 37 19 6665026 6665026 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:6665026C>T ENST00000326176.9 - 5 907 c.526G>A c.(526-528)Ggg>Agg p.G176R TNFSF14_ENST00000245912.3_Missense_Mutation_p.G176R|TNFSF14_ENST00000599359.1_Missense_Mutation_p.G212R NM_003807.3|NM_172014.2 NP_003798.2|NP_742011.2 O43557 TNF14_HUMAN tumor necrosis factor (ligand) superfamily, member 14 212 cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 ACCTTCTCCCCAGCCTCCAGG 0.632000 9 12 0 0 0.004482 0 0 MAST1 22983 broad.mit.edu 37 19 12958462 12958462 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:12958462C>T ENST00000251472.4 + 6 564 c.525C>T c.(523-525)atC>atT p.I175I MAST1_ENST00000591495.1_Silent_p.I171I NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 175 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 ACAACGAGATCGTGATGATGA 0.652000 OREG0025277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 34 0 0 0.002299 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 12 0 0 0.004672 0 0 HBG2 3048 broad.mit.edu 37 11 5275658 5275658 + Missense_Mutation SNP T T G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:5275658T>G ENST00000380259.2 - 7 1419 c.179A>C c.(178-180)aAa>aCa p.K60T HBG2_ENST00000380252.1_Missense_Mutation_p.K50T|HBG2_ENST00000336906.4_Missense_Mutation_p.K60T hemoglobin, gamma G endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCCTTGACTTTGGGGTTGCC 0.537000 18 52 0 0 0.001786 0 0 UNC13D 201294 broad.mit.edu 37 17 73839598 73839598 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:73839598G>A ENST00000207549.4 - 2 499 c.120C>T c.(118-120)atC>atT p.I40I UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Silent_p.I40I NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 40 positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) ATGGAGGCTGGATCTGCAGAG 0.637000 Familial Hemophagocytic Lymphohistiocytosis 10 14 0 0 0.000978 0 0 KIRREL2 84063 broad.mit.edu 37 19 36351226 36351226 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:36351226C>T ENST00000360202.5 + 6 899 c.701C>T c.(700-702)tCg>tTg p.S234L KIRREL2_ENST00000262625.7_Missense_Mutation_p.S234L|KIRREL2_ENST00000347900.6_Missense_Mutation_p.S184L|KIRREL2_ENST00000592409.1_Missense_Mutation_p.S234L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000586102.2_Missense_Mutation_p.S214L NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 234 Ig-like C2-type 3. cell adhesion integral to membrane|plasma membrane p.S234L(2) breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTGTCTGCTTCGCCACACACT 0.602000 7 7 0 0 0.006214 0 0 CHRNA9 55584 broad.mit.edu 37 4 40351209 40351209 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:40351209G>A ENST00000310169.2 + 4 815 c.676G>A c.(676-678)Gat>Aat p.D226N NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 226 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) GCCTTACCCGGATGTCACATT 0.502000 101 174 0 0 0.003610 0 0 ZNF331 55422 broad.mit.edu 37 19 54080487 54080487 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:54080487C>T ENST00000253144.9 + 7 2006 c.673C>T c.(673-675)Cgg>Tgg p.R225W ZNF331_ENST00000411977.2_Missense_Mutation_p.R225W|ZNF331_ENST00000513999.1_Missense_Mutation_p.R225W|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000511593.2_Missense_Mutation_p.R225W|ZNF331_ENST00000511154.1_Missense_Mutation_p.R225W|ZNF331_ENST00000512387.1_Missense_Mutation_p.R225W|ZNF331_ENST00000449416.1_Missense_Mutation_p.R225W NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) AAAGGCCTTTCGGCGTGGTGA 0.473000 T ? follicular thyroid adenoma 20 37 0 0 0.001523 0 0 KIAA1109 84162 broad.mit.edu 37 4 123230543 123230543 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:123230543C>T ENST00000264501.4 + 59 10549 c.10176C>T c.(10174-10176)atC>atT p.I3392I KIAA1109_ENST00000388738.3_Silent_p.I3392I|KIAA1109_ENST00000455637.1_Silent_p.I3392I Q2LD37 K1109_HUMAN KIAA1109 3392 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 ACTTTTGTATCCGTTTTGCTG 0.383000 16 56 0 0 0.006122 0 0 NEK7 140609 broad.mit.edu 37 1 198266348 198266348 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:198266348C>T ENST00000367385.4 + 9 1118 c.776C>T c.(775-777)cCt>cTt p.P259L NEK7_ENST00000538004.1_Missense_Mutation_p.P259L NM_133494.2 NP_598001.1 Q8TDX7 NEK7_HUMAN NIMA-related kinase 7 259 Protein kinase. cytoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 CCACCTCTTCCTTCAGATCAC 0.338000 36 66 0 0 0.007835 0 0 GALNT13 114805 broad.mit.edu 37 2 155158006 155158006 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:155158006C>T ENST00000392825.3 + 9 1627 c.1060C>T c.(1060-1062)Cct>Tct p.P354S GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.P354S NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 354 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 ATACACTTTTCCTGGTGGCAC 0.438000 51 88 0 0 0.003610 0 0 PFKFB3 5209 broad.mit.edu 37 10 6255623 6255623 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:6255623C>T ENST00000379775.4 + 2 444 c.114C>T c.(112-114)atC>atT p.I38I PFKFB3_ENST00000536985.1_Silent_p.I18I|PFKFB3_ENST00000379782.3_Silent_p.I38I|PFKFB3_ENST00000317350.4_Silent_p.I38I|PFKFB3_ENST00000360521.2_Silent_p.I38I|PFKFB3_ENST00000379789.4_Silent_p.I18I|PFKFB3_ENST00000379785.1_Silent_p.I38I|PFKFB3_ENST00000540253.1_Silent_p.I52I NM_004566.3 NP_004557.1 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 38 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding p.I38I(2) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1) 22 CCACCGTCATCGTCATGGTGG 0.582000 26 55 0 0 0.005443 0 0 ACTL6B 51412 broad.mit.edu 37 7 100245115 100245115 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:100245115C>T ENST00000160382.5 - 8 817 c.711G>A c.(709-711)aaG>aaA p.K237K NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 237 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GTAGCTTCTCCTTCTTCTTCC 0.607000 21 48 0 0 0.006320 0 0 OPRK1 4986 broad.mit.edu 37 8 54142013 54142013 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:54142013G>A ENST00000265572.3 - 4 1284 c.987C>T c.(985-987)ctC>ctT p.L329L OPRK1_ENST00000524278.1_Silent_p.L240L|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.L329L NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 329 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) GAAAGGCGTAGAGAATGGGAT 0.517000 8 33 0 0 0.003080 0 0 IL1RL1 9173 broad.mit.edu 37 2 102964509 102964509 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:102964509C>T ENST00000233954.1 + 9 1346 c.1075C>T c.(1075-1077)Ctg>Ttg p.L359L NM_016232.4 NP_057316.3 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 359 innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 TGAGGCCACTCTGCTCTGGAG 0.373000 6 16 0 0 0.003080 0 0 SPATA20 64847 broad.mit.edu 37 17 48631791 48631791 + Nonsense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:48631791C>T ENST00000006658.6 + 15 2257 c.2137C>T c.(2137-2139)Cag>Tag p.Q713* SPATA20_ENST00000356488.4_Nonsense_Mutation_p.Q697*|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Nonsense_Mutation_p.Q653* NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 697 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) CCTCTCAGCCCAGCAGCAGAC 0.652000 21 76 0 0 0.002780 0 0 FRY 10129 broad.mit.edu 37 13 32841345 32841345 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:32841345C>T ENST00000380250.3 + 55 8481 c.7985C>T c.(7984-7986)tCg>tTg p.S2662L FRY_ENST00000542859.1_Missense_Mutation_p.S32L NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2662 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) CCCCCTCCCTCGCCCTTCTTC 0.537000 33 58 0 0 0.003271 0 0 CACNA1E 777 broad.mit.edu 37 1 181741226 181741226 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:181741226G>A ENST00000526775.1 + 36 5106 c.4941G>A c.(4939-4941)caG>caA p.Q1647Q CACNA1E_ENST00000367567.4_Silent_p.Q1273Q|CACNA1E_ENST00000357570.5_Silent_p.Q1617Q|CACNA1E_ENST00000360108.3_Silent_p.Q1647Q|CACNA1E_ENST00000358338.5_Silent_p.Q1598Q|CACNA1E_ENST00000367573.2_Silent_p.Q1666Q|CACNA1E_ENST00000367570.1_Silent_p.Q1666Q NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1666 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 AGGCCTGGCAGGAGATTATGC 0.557000 14 26 0 0 0.001855 0 0 RAP1B 5908 broad.mit.edu 37 12 69047971 69047971 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:69047971C>T ENST00000250559.9 + 5 494 c.263C>T c.(262-264)tCc>tTc p.S88F RAP1B_ENST00000393436.5_Missense_Mutation_p.S88F|RAP1B_ENST00000341355.5_Missense_Mutation_p.S88F|RAP1B_ENST00000378985.3_Missense_Mutation_p.S22F|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000543697.1_Missense_Mutation_p.S88F|RAP1B_ENST00000543393.1_Missense_Mutation_p.S22F|RAP1B_ENST00000542145.1_Intron|RAP1B_ENST00000541216.1_Missense_Mutation_p.S88F|RAP1B_ENST00000537460.1_Missense_Mutation_p.S88F|RAP1B_ENST00000540209.1_Missense_Mutation_p.S69F|RAP1B_ENST00000539091.1_Missense_Mutation_p.S46F|RAP1B_ENST00000450214.2_Missense_Mutation_p.S46F NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5 NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1 P61224 RAP1B_HUMAN RAP1B, member of RAS oncogene family 88 blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion cell-cell junction|cytosol GDP binding|GTP binding|GTPase activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2) 12 Breast(13;1.24e-05) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GBM - Glioblastoma multiforme(7;0.000306) ACAGCACAGTCCACATTTAAC 0.333000 41 124 0 0 0.002522 0 0 CACNA1S 779 broad.mit.edu 37 1 201031215 201031215 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:201031215G>A ENST00000362061.3 - 24 3136 c.2910C>T c.(2908-2910)ggC>ggT p.G970G CACNA1S_ENST00000367338.3_Silent_p.G970G NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 970 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CGTAGTAGTAGCCCCTGTGGC 0.617000 3 6 0 0 0.004672 0 0 SCN9A 6335 broad.mit.edu 37 2 167060887 167060887 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:167060887G>A ENST00000375387.4 - 25 4829 c.4489C>T c.(4489-4491)Cca>Tca p.P1497S SCN9A_ENST00000409672.1_Missense_Mutation_p.P1485S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.P1496S|SCN9A_ENST00000303354.6_Missense_Mutation_p.P1497S Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1496 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CGAGGAATTGGCTTTTGTGGC 0.313000 23 25 0 0 0.003330 0 0 ATP2A2 488 broad.mit.edu 37 12 110719652 110719652 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:110719652G>A ENST00000395494.2 + 1 621 c.58G>A c.(58-60)Gag>Aag p.E20K ATP2A2_ENST00000308664.6_Missense_Mutation_p.E20K|ATP2A2_ENST00000552636.1_Intron|ATP2A2_ENST00000539276.2_Missense_Mutation_p.E20K P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 20 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 CGGCGTCAACGAGAGTACGGG 0.706000 4 6 0 0 0.000248 0 0 MUC16 94025 broad.mit.edu 37 19 9048354 9048354 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:9048354C>T ENST00000397910.4 - 5 33480 c.33277G>A c.(33277-33279)Ggg>Agg p.G11093R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11095 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 CCTGATACCCCAGGTGAAACA 0.502000 13 25 0 0 0.001368 0 0 SLC8B1 80024 broad.mit.edu 37 12 113744325 113744325 + Silent SNP G G A rs142106014 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:113744325G>A ENST00000552014.1 - 15 1982 c.1467C>T c.(1465-1467)tcC>tcT p.S489S SLC24A6_ENST00000546737.1_Silent_p.S433S|SLC24A6_ENST00000549069.1_Silent_p.S48S|SLC24A6_ENST00000202831.3_Silent_p.S489S|SLC24A6_ENST00000550047.1_Silent_p.S4S Q6J4K2 NCKX6_HUMAN 489 response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 CAAAGCAGGCGGAGAACGCCA 0.607000 8 12 0 0 0.004482 0 0 PCLO 27445 broad.mit.edu 37 7 82584294 82584294 + Missense_Mutation SNP T T A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:82584294T>A ENST00000423517.2 - 5 6312 c.5975A>T c.(5974-5976)aAg>aTg p.K1992M PCLO_ENST00000333891.8_Missense_Mutation_p.K1992M NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1923 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AAGTCTTATCTTTTGCTCTCT 0.378000 50 101 0 0 0.003610 0 0 DTX4 23220 broad.mit.edu 37 11 58949292 58949292 + Missense_Mutation SNP G G C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:58949292G>C ENST00000227451.3 + 2 396 c.292G>C c.(292-294)Gac>Cac p.D98H DTX4_ENST00000532982.1_5'UTR NM_015177.1 NP_055992.1 Q9Y2E6 DTX4_HUMAN deltex homolog 4 (Drosophila) 98 WWE 2. Notch signaling pathway cytoplasm zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 20 all_epithelial(135;0.125) GTGGGAGAACGACAATGGCTC 0.617000 15 46 0 0 0.002450 0 0 LAMA2 3908 broad.mit.edu 37 6 129802525 129802525 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:129802525C>T ENST00000421865.2 + 55 7739 c.7690C>T c.(7690-7692)Ctt>Ttt p.L2564F RP1-69D17.3_ENST00000442449.1_RNA NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2564 Laminin G-like 3. L -> P (in MDC1A). cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CGGCATCATTCTTTTGGGAAG 0.488000 31 18 0 0 0.001512 0 0 AIFM3 150209 broad.mit.edu 37 22 21332233 21332233 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:21332233C>T ENST00000399167.2 + 16 1656 c.1416C>T c.(1414-1416)ccC>ccT p.P472P AIFM3_ENST00000405089.1_Silent_p.P478P|AIFM3_ENST00000440238.2_Silent_p.P472P|AIFM3_ENST00000333607.6_Silent_p.P472P|AIFM3_ENST00000335375.5_Silent_p.P460P|AIFM3_ENST00000399163.2_Silent_p.P472P|AIFM3_ENST00000465606.1_3'UTR NM_144704.2 NP_653305.1 apoptosis-inducing factor, mitochondrion-associated, 3 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TCACCTTCCCCCTTGCCTGGA 0.597000 9 14 0 0 0.006214 0 0 LPHN3 23284 broad.mit.edu 37 4 62935858 62935858 + Missense_Mutation SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:62935858T>C ENST00000512091.1 + 26 4441 c.3694T>C c.(3694-3696)Tgt>Cgt p.C1232R LPHN3_ENST00000506700.1_Missense_Mutation_p.C1223R|LPHN3_ENST00000506746.1_Silent_p.S1316S|LPHN3_ENST00000508946.1_Silent_p.S1257S|LPHN3_ENST00000506720.1_Silent_p.S1325S|LPHN3_ENST00000514996.1_Silent_p.S1248S|LPHN3_ENST00000509896.1_Missense_Mutation_p.C1300R|LPHN3_ENST00000508693.1_Missense_Mutation_p.C1343R|LPHN3_ENST00000545650.1_Silent_p.S1214S|LPHN3_ENST00000514591.1_Silent_p.S1214S|LPHN3_ENST00000514157.1_Missense_Mutation_p.C1266R|LPHN3_ENST00000507164.1_Missense_Mutation_p.C1334R|LPHN3_ENST00000504896.1_Missense_Mutation_p.C1275R|LPHN3_ENST00000507625.1_Silent_p.S1273S|LPHN3_ENST00000511324.1_Missense_Mutation_p.C1291R Q9HAR2 LPHN3_HUMAN latrophilin 3 0 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 GGGATACAAGTGTCATGGATA 0.433000 26 35 0 0 0.002096 0 0 LRP5 4041 broad.mit.edu 37 11 68216527 68216527 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:68216527G>A ENST00000294304.7 + 23 4943 c.4837G>A c.(4837-4839)Gac>Aac p.D1613N LRP5_ENST00000529481.1_3'UTR NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1613 adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCCCTGCACGGACTCATCCTG 0.537000 11 32 0 0 0.001368 0 0 DAGLA 747 broad.mit.edu 37 11 61488326 61488326 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:61488326C>T ENST00000257215.5 + 3 387 c.271C>T c.(271-273)Cgt>Tgt p.R91C NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 91 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) CACGGAGCCCCGTGACTCCAT 0.647000 18 24 0 0 0.001882 0 0 KIAA1549 57670 broad.mit.edu 37 7 138545892 138545892 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:138545892G>A ENST00000440172.1 - 16 5288 c.5240C>T c.(5239-5241)cCc>cTc p.P1747L KIAA1549_ENST00000422774.1_Missense_Mutation_p.P1747L|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P1697L NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1747 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TACACTGCAGGGATTGTTGGC 0.587000 O BRAF pilocytic astrocytoma 16 43 0 0 0.007413 0 0 AKAP12 9590 broad.mit.edu 37 6 151671352 151671352 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:151671352C>T ENST00000402676.2 + 4 2066 c.1826C>T c.(1825-1827)cCc>cTc p.P609L AKAP12_ENST00000354675.6_Missense_Mutation_p.P511L|AKAP12_ENST00000359755.5_Missense_Mutation_p.P504L|AKAP12_ENST00000253332.1_Missense_Mutation_p.P609L NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 609 AKAP 1. G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GGTGTCACTCCCTGGGCATCA 0.507000 5 6 0 0 0.000602 0 0 SLC2A5 6518 broad.mit.edu 37 1 9098036 9098036 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:9098036G>A ENST00000377424.4 - 11 1401 c.1222C>T c.(1222-1224)Cgg>Tgg p.R408W SLC2A5_ENST00000535586.1_Missense_Mutation_p.R293W|SLC2A5_ENST00000536305.1_Missense_Mutation_p.R349W NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 (facilitated glucose/fructose transporter), member 5 408 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GCAGATGGCCGAGAGGACTGC 0.647000 12 16 0 0 0.000978 0 0 FAM115A 9747 broad.mit.edu 37 7 143573478 143573478 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:143573478G>A ENST00000479870.1 - 2 432 c.224C>T c.(223-225)cCc>cTc p.P75L FAM115A_ENST00000392900.3_Intron|FAM115A_ENST00000355951.2_Missense_Mutation_p.P75L NM_001206938.1|NM_001206941.1|NM_014719.2 NP_001193867.1|NP_001193870.1|NP_055534.1 Q9Y4C2 F115A_HUMAN family with sequence similarity 115, member A 75 NS(1)|endometrium(1)|lung(5) 7 Melanoma(164;0.0903) CAGGAGAAAGGGCGTGAGCTG 0.607000 7 17 0 0 0.004482 0 0 VPS18 57617 broad.mit.edu 37 15 41192210 41192210 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:41192210C>T ENST00000220509.5 + 4 1533 c.1194C>T c.(1192-1194)gtC>gtT p.V398V VPS18_ENST00000558474.1_Intron NM_020857.2 NP_065908.1 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 homolog (S. cerevisiae) 398 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) CCCGAGATGTCTGGCGCACCT 0.627000 19 61 0 0 0.002780 0 0 MS4A4E 643680 broad.mit.edu 37 11 59997464 59997464 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:59997464C>T ENST00000528394.1 - 1 64 c.65G>A c.(64-66)gGa>gAa p.G22E MS4A4E_ENST00000425663.1_Missense_Mutation_p.G22E|MS4A4E_ENST00000427611.2_5'UTR|MS4A4E_ENST00000398986.2_Missense_Mutation_p.G22E|MS4A4E_ENST00000398984.2_Missense_Mutation_p.G22E|MS4A4E_ENST00000526086.1_Missense_Mutation_p.G22E membrane-spanning 4-domains, subfamily A, member 4E ovary(1) 1 ATCTATGTTTCCCAGCTGGGG 0.448000 7 21 0 0 0.003080 0 0 INTS6-AS1 100507398 broad.mit.edu 37 13 52035470 52035470 + RNA SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:52035470T>C ENST00000594959.1 + 0 411 INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000601034.1_RNA GGGTGACATGTTAGATCTTTG 0.423000 7 9 0 0 0.001984 0 0 LILRA1 11024 broad.mit.edu 37 19 55107160 55107160 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:55107160G>A ENST00000251372.3 + 6 900 c.718G>A c.(718-720)Gag>Aag p.E240K LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_Intron NM_006863.1 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 240 Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GGCCCCTGGGGAGAGCCTGAC 0.557000 23 60 0 0 0.004656 0 0 PHKA2 5256 broad.mit.edu 37 X 18963270 18963270 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:18963270C>T ENST00000379942.4 - 6 1209 c.544G>A c.(544-546)Gga>Aga p.G182R NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 182 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) TCCCACATTCCATAATCCTGG 0.473000 15 5 0 0 0.002450 0 0 DDX27 55661 broad.mit.edu 37 20 47852896 47852896 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:47852896C>T ENST00000371764.4 + 14 1638 c.1629C>T c.(1627-1629)acC>acT p.T543T DDX27_ENST00000484427.1_3'UTR NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 543 Helicase C-terminal. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TGCCTAATACCATCAAACATT 0.532000 25 84 0 0 0.005443 0 0 SIGLEC6 946 broad.mit.edu 37 19 52033135 52033135 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:52033135G>A ENST00000346477.3 - 4 875 c.807C>T c.(805-807)agC>agT p.S269S SIGLEC6_ENST00000391797.3_Silent_p.S274S|SIGLEC6_ENST00000343300.4_Silent_p.S285S|SIGLEC6_ENST00000425629.3_Silent_p.S285S|SIGLEC6_ENST00000436458.1_Silent_p.S233S|SIGLEC6_ENST00000359982.4_Silent_p.S296S NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 285 Ig-like C2-type 2. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) CCTGGAACCAGCTCAGGTGTG 0.612000 25 34 0 0 0.004656 0 0 LCA5 167691 broad.mit.edu 37 6 80223457 80223457 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:80223457G>A ENST00000392959.1 - 4 803 c.190_splice c.e4-1 p.A64_splice LCA5_ENST00000467898.2_Splice_Site_p.A64_splice|LCA5_ENST00000369846.4_Splice_Site_p.A64_splice NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 64 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) GTTTCCGAGGGGCTAAAAAAG 0.438000 52 46 0 0 0.003610 0 0 MYO5B 4645 broad.mit.edu 37 18 47527636 47527636 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:47527636G>A ENST00000285039.7 - 5 900 c.601C>T c.(601-603)Ccc>Tcc p.P201S NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 201 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TCCATGATGGGACTGGATGCC 0.592000 17 24 0 0 0.004990 0 0 SAMD9 54809 broad.mit.edu 37 7 92730882 92730882 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:92730882G>A ENST00000379958.2 - 3 4798 c.4529C>T c.(4528-4530)tCc>tTc p.S1510F NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1510 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CTGCCACAAGGAATTAATATC 0.358000 5 25 0 0 0.000602 0 0 CCDC13 152206 broad.mit.edu 37 3 42781285 42781285 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:42781285C>T ENST00000310232.6 - 9 1088 c.1005G>A c.(1003-1005)cgG>cgA p.R335R CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 335 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 GGAGGACATCCCGTTCACTGG 0.522000 21 39 0 0 0.001882 0 0 CSMD2 114784 broad.mit.edu 37 1 34401395 34401395 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:34401395G>A ENST00000373381.4 - 4 854 c.678C>T c.(676-678)agC>agT p.S226S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 186 CUB 2. 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) CCCACGTGGCGCTGTTCTCAG 0.632000 11 25 0 0 0.000673 0 0 RP1 6101 broad.mit.edu 37 8 55538107 55538107 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:55538107G>A ENST00000220676.1 + 4 1813 c.1665G>A c.(1663-1665)caG>caA p.Q555Q NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 555 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTACAAGTCAGAAGATGTTAG 0.343000 10 49 0 0 0.001368 0 0 CAP2 10486 broad.mit.edu 37 6 17551751 17551751 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:17551751C>T ENST00000229922.2 + 12 1798 c.1266C>T c.(1264-1266)taC>taT p.Y422Y CAP2_ENST00000465994.1_Silent_p.Y358Y|CAP2_ENST00000489374.1_Silent_p.Y310Y|CAP2_ENST00000493172.1_Silent_p.Y162Y|CAP2_ENST00000378990.2_Silent_p.Y396Y NM_006366.2 NP_006357.1 P40123 CAP2_HUMAN CAP, adenylate cyclase-associated protein, 2 (yeast) 422 C-CAP/cofactor C-like. activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1) 27 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) GCCACATATACCTCAGTGAAG 0.398000 47 18 0 0 0.003610 0 0 PPP1R15B 84919 broad.mit.edu 37 1 204378971 204378971 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:204378971G>A ENST00000367188.4 - 1 1948 c.1569C>T c.(1567-1569)tcC>tcT p.S523S RP11-739N20.2_ENST00000443515.1_RNA NM_032833.3 NP_116222.3 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 523 regulation of translation breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3) 34 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) CAGACTGGGAGGAATTCTCTA 0.473000 13 24 0 0 0.004007 0 0 GMPPB 29925 broad.mit.edu 37 3 49759664 49759664 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:49759664C>T ENST00000480687.1 - 8 884 c.768_splice c.e8+1 p.V256_splice AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_Splice_Site_p.V256_splice|GMPPB_ENST00000308388.6_Splice_Site_p.V256_splice Q9Y5P6 GMPPB_HUMAN GDP-mannose pyrophosphorylase B 256 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AGGGCCTCACCACCAGCACGT 0.597000 17 36 0 0 0.006122 0 0 OR11H12 440153 broad.mit.edu 37 14 19378093 19378093 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:19378093G>A ENST00000550708.1 + 1 572 c.500G>A c.(499-501)gGa>gAa p.G167E NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGGGTTTGTGGATTTCTGTGG 0.488000 23 257 0 0 0.006999 0 0 FHDC1 85462 broad.mit.edu 37 4 153896077 153896077 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:153896077C>T ENST00000511601.1 + 12 1822 c.1634C>T c.(1633-1635)cCc>cTc p.P545L FHDC1_ENST00000260008.3_Missense_Mutation_p.P545L Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 545 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) TCCCTGGGTCCCTCTGCTGAC 0.706000 5 13 0 0 0.001168 0 0 OR4A15 81328 broad.mit.edu 37 11 55135918 55135918 + Nonsense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:55135918C>T ENST00000314706.3 + 1 559 c.559C>T c.(559-561)Caa>Taa p.Q187* NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 CTCATTGGTTCAATTTCTCTT 0.423000 35 79 0 0 0.004289 0 0 SHC2 25759 broad.mit.edu 37 19 422286 422286 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:422286G>A ENST00000264554.6 - 11 1479 c.1480C>T c.(1480-1482)Cgc>Tgc p.R494C NM_012435.2 NP_036567.2 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) transforming protein 2 494 SH2. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCGCCCGGCGGCTCATCCGG 0.701000 4 4 0 0 0.001168 0 0 KCNMA1 3778 broad.mit.edu 37 10 78850220 78850220 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:78850220G>A ENST00000286627.5 - 10 2224 c.1272C>T c.(1270-1272)ttC>ttT p.F424F KCNMA1_ENST00000404771.3_Silent_p.F424F|KCNMA1_ENST00000354353.5_Silent_p.F424F|KCNMA1_ENST00000404857.1_Silent_p.F424F|KCNMA1_ENST00000286628.8_Silent_p.F424F|KCNMA1_ENST00000372440.1_Silent_p.F424F|KCNMA1_ENST00000406533.3_Silent_p.F424F|KCNMA1_ENST00000372443.1_Silent_p.F424F NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 424 RCK N-terminal. cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) AGTCCTTCAGGAAGTTGGAAA 0.532000 23 53 0 0 0.006320 0 0 GLRA3 8001 broad.mit.edu 37 4 175598335 175598335 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:175598335G>A ENST00000274093.3 - 7 1323 c.821C>T c.(820-822)tCa>tTa p.S274L GLRA3_ENST00000340217.5_Missense_Mutation_p.S274L NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 274 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) GATCCAGAATGAAACCCAGGA 0.478000 9 17 0 0 0.006214 0 0 ZNF792 126375 broad.mit.edu 37 19 35449498 35449498 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:35449498G>A ENST00000404801.1 - 4 1647 c.1261C>T c.(1261-1263)Cct>Tct p.P421S ZNF792_ENST00000605484.1_Missense_Mutation_p.P354S NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 421 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CACTTGTAAGGTCTTTCTCCA 0.478000 11 29 0 0 0.001368 0 0 CLCN7 1186 broad.mit.edu 37 16 1505732 1505732 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:1505732G>A ENST00000382745.4 - 11 1586 c.981_splice c.e11+1 p.I327_splice CLCN7_ENST00000448525.1_Splice_Site_p.I303_splice|CLCN7_ENST00000262318.8_Splice_Site_p.I303_splice NM_001287.5 NP_001278.1 P51798 CLCN7_HUMAN chloride channel, voltage-sensitive 7 327 integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) AGGAACTTACGATCCTCCAGG 0.637000 13 33 0 0 0.003163 0 0 SCAF1 58506 broad.mit.edu 37 19 50150025 50150025 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:50150025C>T ENST00000360565.3 + 6 540 c.416C>T c.(415-417)cCc>cTc p.P139L NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 139 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GACAGAGATCCCATCCCTCTG 0.662000 8 5 0 0 0.006214 0 0 DZANK1 55184 broad.mit.edu 37 20 18396034 18396034 + Silent SNP G G T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:18396034G>T ENST00000357236.4 - 12 1331 c.672C>A c.(670-672)tcC>tcA p.S224S DZANK1_ENST00000262547.5_Silent_p.S338S|DZANK1_ENST00000329494.5_Silent_p.S340S|DZANK1_ENST00000377630.5_Silent_p.S165S|DZANK1_ENST00000487128.1_5'UTR Q9NVP4 CT012_HUMAN double zinc ribbon and ankyrin repeat domains 1 165 intracellular zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10) 19 ATCTGTAGCAGGAAATGGTCC 0.512000 16 26 8.28177e-16 1.08759e-15 0.007413 1 0 RREB1 6239 broad.mit.edu 37 6 7231372 7231372 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:7231372C>T ENST00000379938.2 + 10 3577 c.3040C>T c.(3040-3042)Ctg>Ttg p.L1014L RREB1_ENST00000334984.6_Silent_p.L1014L|RREB1_ENST00000349384.6_Silent_p.L1014L|RREB1_ENST00000379933.3_Silent_p.L1014L NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 1014 Pro-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CCCTGTTCAGCTGGCGGTCCC 0.682000 9 22 0 0 0.004482 0 0 NT5C1B 93034 broad.mit.edu 37 2 18765931 18765931 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:18765931C>T ENST00000304081.4 - 4 672 c.572G>A c.(571-573)gGg>gAg p.G191E NT5C1B_ENST00000600945.1_Missense_Mutation_p.G251E|NT5C1B_ENST00000359846.2_Missense_Mutation_p.G251E|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.G251E NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) GGGGTAGATCCCCCTGCGCTG 0.667000 4 15 0 0 0.001168 0 0 SMC6 79677 broad.mit.edu 37 2 17860180 17860180 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:17860180C>T ENST00000448223.2 - 25 3125 c.2856G>A c.(2854-2856)cgG>cgA p.R952R SMC6_ENST00000402989.1_Silent_p.R952R|SMC6_ENST00000381272.4_Silent_p.R978R|SMC6_ENST00000351948.4_Silent_p.R952R NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 952 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CACAATAGGCCCGCTGAGATA 0.303000 10 37 0 0 0.001368 0 0 AKAP6 9472 broad.mit.edu 37 14 33014688 33014688 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:33014688G>A ENST00000280979.4 + 4 999 c.829G>A c.(829-831)Gta>Ata p.V277I AKAP6_ENST00000557272.1_Missense_Mutation_p.V277I|AKAP6_ENST00000557354.1_Missense_Mutation_p.V277I NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 277 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TTTACTTACGGTAGCTGCTGA 0.458000 37 83 0 0 0.001951 0 0 APC2 10297 broad.mit.edu 37 19 1465626 1465626 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:1465626G>A ENST00000535453.1 + 14 4039 c.2326G>A c.(2326-2328)Ggc>Agc p.G776S APC2_ENST00000238483.4_Missense_Mutation_p.G502S|APC2_ENST00000233607.2_Missense_Mutation_p.G776S|C19orf25_ENST00000588427.1_Intron O95996 APC2_HUMAN adenomatosis polyposis coli 2 776 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 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) TTCCGATTCGGGCTGCTTTGA 0.716000 4 6 0 0 0.001984 0 0 AGO2 27161 broad.mit.edu 37 8 141595379 141595379 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:141595379G>A ENST00000220592.5 - 2 166 c.54C>T c.(52-54)atC>atT p.I18I AGO2_ENST00000517293.1_5'UTR|AGO2_ENST00000519980.1_Silent_p.I18I NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 CATATCCTTGGATGGGGGGCG 0.577000 51 34 0 0 0.003610 0 0 NKAIN2 154215 broad.mit.edu 37 6 124979392 124979392 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:124979392G>A ENST00000368417.1 + 4 394 c.334G>A c.(334-336)Gga>Aga p.G112R NKAIN2_ENST00000368416.1_Missense_Mutation_p.G112R|NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Missense_Mutation_p.G97R NM_001040214.1 NP_001035304.1 Q5VXU1 NKAI2_HUMAN Na+/K+ transporting ATPase interacting 2 112 integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) GATGGAGAATGGACCAGGATG 0.473000 20 20 0 0 0.002780 0 0 SLC10A5 347051 broad.mit.edu 37 8 82606445 82606445 + Missense_Mutation SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:82606445A>G ENST00000518568.1 - 1 1964 c.763T>C c.(763-765)Tat>Cat p.Y255H NM_001010893.2 NP_001010893.1 Q5PT55 NTCP5_HUMAN solute carrier family 10, member 5 255 integral to membrane bile acid:sodium symporter activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5) 15 CTGTATATATAAGAATTGACA 0.373000 41 13 0 0 0.002222 0 0 SRRD 402055 broad.mit.edu 37 22 26884359 26884359 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:26884359C>T ENST00000215917.6 + 4 528 c.514C>T c.(514-516)Ccc>Tcc p.P172S NM_001013694.2 NP_001013716.2 Q9UH36 SRR1L_HUMAN SRR1 domain containing 172 rhythmic process endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 CTTCTAGATTCCCAGAAGTCA 0.428000 50 68 0 0 0.003610 0 0 WDR48 57599 broad.mit.edu 37 3 39136169 39136169 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:39136169G>A ENST00000302313.5 + 19 1997 c.1969G>A c.(1969-1971)Gtg>Atg p.V657M WDR48_ENST00000418020.1_Missense_Mutation_p.V101M|WDR48_ENST00000396258.3_Missense_Mutation_p.V575M|WDR48_ENST00000466405.1_3'UTR|WDR48_ENST00000544962.1_Missense_Mutation_p.V382M NM_020839.2 NP_065890.1 Q8TAF3 WDR48_HUMAN WD repeat domain 48 657 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CCTTCGAACAGTGAAACACTT 0.398000 30 55 0 0 0.002836 0 0 CARD11 84433 broad.mit.edu 37 7 2954959 2954959 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:2954959C>T ENST00000396946.4 - 21 3154 c.2751G>A c.(2749-2751)gaG>gaA p.E917E NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 917 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TGCGGACCCGCTCGTTGCTGT 0.587000 Mis DLBCL 11 25 0 0 0.000978 0 0 MESP2 145873 broad.mit.edu 37 15 90321454 90321454 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:90321454C>T ENST00000341735.3 + 2 1083 c.1083C>T c.(1081-1083)gcC>gcT p.A361A MESP2_ENST00000560219.1_Silent_p.A63A|MESP2_ENST00000558723.1_3'UTR NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 361 Notch signaling pathway nucleus DNA binding kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) CGGGCGCCGCCTTCCAGCTCA 0.657000 13 12 0 0 0.001855 0 0 MAP3K4 4216 broad.mit.edu 37 6 161518132 161518132 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:161518132C>T ENST00000392142.4 + 16 3596 c.3448C>T c.(3448-3450)Cgt>Tgt p.R1150C MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1146C|MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1150C|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1146C NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1150 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding p.R1150C(2) breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GAACAGCCCCCGTCCTATGAA 0.448000 18 13 0 0 0.007413 0 0 LSM14A 26065 broad.mit.edu 37 19 34687573 34687573 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:34687573C>T ENST00000544216.3 + 3 397 c.320C>T c.(319-321)tCc>tTc p.S107F LSM14A_ENST00000433627.5_Missense_Mutation_p.S107F|LSM14A_ENST00000540746.2_Missense_Mutation_p.S107F NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 107 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) TCATTCCAGTCCATGGGTTCT 0.433000 37 83 0 0 0.006230 0 0 GNB4 59345 broad.mit.edu 37 3 179123136 179123136 + Missense_Mutation SNP A A C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:179123136A>C ENST00000232564.3 - 9 1044 c.758T>G c.(757-759)tTt>tGt p.F253C GNB4_ENST00000468623.1_Missense_Mutation_p.F253C NM_021629.3 NP_067642.1 Q9HAV0 GBB4_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 4 253 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) ACGAAGGTCAAAGAGCCGGCA 0.418000 6 18 0 0 0.001168 0 0 KIAA0754 643314 broad.mit.edu 37 1 39880054 39880054 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:39880054C>T ENST00000530275.1 + 1 3904 c.3709C>T c.(3709-3711)Ctt>Ttt p.L1237F MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000289893.4_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 1237 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAAGGAGGACCTTGATTCCCT 0.488000 7 12 0 0 0.001984 0 0 FAM47B 170062 broad.mit.edu 37 X 34961360 34961360 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:34961360G>A ENST00000329357.5 + 1 448 c.412G>A c.(412-414)Gga>Aga p.G138R NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 138 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CCCCAATCTGGGAAAAGATAT 0.572000 22 6 0 0 0.003954 0 0 SLC25A11 8402 broad.mit.edu 37 17 4842173 4842173 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:4842173G>A ENST00000225665.7 - 3 686 c.346C>T c.(346-348)Ccc>Tcc p.P116S SLC25A11_ENST00000544061.2_Missense_Mutation_p.P65S NM_001165417.1|NM_003562.4 NP_001158889.1|NP_003553.2 Q02978 M2OM_HUMAN solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 116 gluconeogenesis integral to plasma membrane|mitochondrial inner membrane oxoglutarate:malate antiporter activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 10 AAGCCAGGGGGAGTACCATCA 0.607000 14 8 0 0 0.001855 0 0 ZC3H4 23211 broad.mit.edu 37 19 47570287 47570287 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:47570287G>A ENST00000253048.5 - 15 3275 c.3238C>T c.(3238-3240)Cct>Tct p.P1080S ZC3H4_ENST00000594019.1_5'UTR NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 1080 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TGCAGCCGAGGGTCGGTGGGG 0.706000 9 14 0 0 0.000673 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55045166 55045166 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:55045166G>A ENST00000335056.3 + 3 324 c.286G>A c.(286-288)Gga>Aga p.G96R endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) CAGATGTGTTGGAATTTACAA 0.547000 11 10 0 0 0.000978 0 0 ZBTB26 57684 broad.mit.edu 37 9 125681566 125681566 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:125681566G>A ENST00000373656.3 - 2 721 c.648C>T c.(646-648)ccC>ccT p.P216P ZBTB26_ENST00000373654.1_Silent_p.P216P NM_020924.2 NP_065975.1 Q9HCK0 ZBT26_HUMAN zinc finger and BTB domain containing 26 216 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 GGGAGTGCTGGGGCTCTGATG 0.378000 11 33 0 0 0.000673 0 0 OR4N4 283694 broad.mit.edu 37 15 22382594 22382594 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:22382594G>A ENST00000328795.4 + 1 213 c.122G>A c.(121-123)gGa>gAa p.G41E RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATCCTCCCTGGAAATTTTCTC 0.443000 53 169 0 0 0.003610 0 0 MCM5 4174 broad.mit.edu 37 22 35815967 35815967 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:35815967G>A ENST00000216122.4 + 14 1948 c.1794G>A c.(1792-1794)agG>agA p.R598R MCM5_ENST00000382011.5_Silent_p.R555R NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 598 ARQHERDSDRR -> PVSTRGTVTA (in Ref. 3; BAA12176). cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 AGCACGAGAGGGACAGTGACC 0.642000 22 49 0 0 0.001882 0 0 OR2T4 127074 broad.mit.edu 37 1 248525508 248525508 + Missense_Mutation SNP T T G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:248525508T>G ENST00000366475.1 + 1 626 c.626T>G c.(625-627)tTc>tGc p.F209C NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 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) ATTCATCATTTCTTCTGTGAA 0.502000 41 78 0 0 0.001951 0 0 MAN1C1 57134 broad.mit.edu 37 1 26085109 26085109 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:26085109G>A ENST00000374332.4 + 6 1286 c.956G>A c.(955-957)gGc>gAc p.G319D MAN1C1_ENST00000374329.1_Missense_Mutation_p.G90D|MAN1C1_ENST00000473891.1_3'UTR|MAN1C1_ENST00000263979.3_Missense_Mutation_p.G139D NM_020379.2 NP_065112.1 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 319 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) GCCACAGCCGGCAGCAGCAGC 0.577000 8 21 0 0 0.004482 0 0 ZNF536 9745 broad.mit.edu 37 19 31039620 31039620 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:31039620G>A ENST00000355537.3 + 4 3241 c.3094G>A c.(3094-3096)Gat>Aat p.D1032N NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1032 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) GAAACGCAAAGATAACACCAT 0.552000 21 17 0 0 0.001216 0 0 STAB2 55576 broad.mit.edu 37 12 104142832 104142832 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:104142832G>A ENST00000388887.2 + 59 6540 c.6336G>A c.(6334-6336)aaG>aaA p.K2112K RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2112 EGF-like 16. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GCTGCCAGAAGGGATACAAAG 0.587000 18 24 0 0 0.004990 0 0 CLPTM1 1209 broad.mit.edu 37 19 45494515 45494515 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:45494515C>T ENST00000541297.2 + 12 1862 c.1397C>T c.(1396-1398)tCc>tTc p.S466F CLPTM1_ENST00000337392.5_Missense_Mutation_p.S480F|CLPTM1_ENST00000546079.1_Missense_Mutation_p.S378F O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane protein 1 480 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) CGGTACCTGTCCTGGATCCTC 0.647000 77 112 0 0 0.003610 0 0 ZBTB3 79842 broad.mit.edu 37 11 62520256 62520256 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:62520256G>A ENST00000394807.3 - 2 1156 c.1031C>T c.(1030-1032)cCa>cTa p.P344L NM_024784.3 NP_079060.1 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 344 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 Agctggggctggagcctggga 0.572000 17 29 0 0 0.006122 0 0 MOCS3 27304 broad.mit.edu 37 20 49576659 49576659 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:49576659C>T ENST00000244051.1 + 1 1297 c.1280C>T c.(1279-1281)tCc>tTc p.S427F NM_014484.3 NP_055299.1 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 427 Rhodanese. enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 24 ATCCTCCAGTCCTTATCAGCA 0.507000 25 51 0 0 0.003954 0 0 PRDM16 63976 broad.mit.edu 37 1 3334519 3334519 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:3334519C>T ENST00000378398.3 + 12 2901 c.2819C>T c.(2818-2820)tCc>tTc p.S940F PRDM16_ENST00000378391.2_Missense_Mutation_p.S940F|PRDM16_ENST00000511072.1_Missense_Mutation_p.S941F|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.S939F|PRDM16_ENST00000441472.2_Missense_Mutation_p.S939F|PRDM16_ENST00000514189.1_Missense_Mutation_p.S940F|PRDM16_ENST00000270722.5_Missense_Mutation_p.S940F Q9HAZ2 PRD16_HUMAN PR domain containing 16 940 Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CCAACGCTCTCCGACCCCATC 0.667000 T EVI1 """MDS, AML""" 9 15 0 0 0.004482 0 0 CCNDBP1 23582 broad.mit.edu 37 15 43478431 43478431 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:43478431G>A ENST00000300213.4 + 3 491 c.249_splice c.e3+1 p.Q83_splice EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_5'UTR NM_012142.4 NP_036274.3 O95273 CCDB1_HUMAN cyclin D-type binding-protein 1 83 Interaction with RPLP0.|Interaction with TCF3.|Required for interaction with CCND1. cell cycle cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 13 all_cancers(109;3.31e-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;8.42e-07) CGTCTCCACAGGTGGGCTTCA 0.532000 6 5 0 0 0.001984 0 0 OR6C2 341416 broad.mit.edu 37 12 55846588 55846588 + Silent SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:55846588T>C ENST00000322678.1 + 1 591 c.591T>C c.(589-591)gtT>gtC p.V197V RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 AACAGATGGTTATACTTATGG 0.403000 34 61 0 0 0.004289 0 0 ADCK1 57143 broad.mit.edu 37 14 78397985 78397985 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:78397985C>T ENST00000238561.5 + 10 1430 c.1331C>T c.(1330-1332)gCc>gTc p.A444V ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.A376V NM_020421.3 NP_065154.2 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 451 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) ATTGAGGCCGCCCTGGGCACC 0.627000 14 13 0 0 0.002450 0 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112998569 112998569 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:112998569C>T ENST00000271277.6 + 6 680 c.455C>T c.(454-456)tCc>tTc p.S152F NM_018704.2 NP_061174.1 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 152 actin cytoskeleton protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTTGAAAAATCCCAAGTGAAA 0.418000 8 20 0 0 0.003080 0 0 OR10K2 391107 broad.mit.edu 37 1 158390228 158390228 + Silent SNP T T G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:158390228T>G ENST00000314902.2 - 1 428 c.429A>C c.(427-429)ggA>ggC p.G143G NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) CAGCCACTAGTCCCATACACA 0.488000 5 41 0 0 0.000673 0 0 ADRBK2 157 broad.mit.edu 37 22 26117358 26117358 + Missense_Mutation SNP A A T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:26117358A>T ENST00000324198.5 + 20 2091 c.1899A>T c.(1897-1899)caA>caT p.Q633H NM_005160.3 NP_005151.2 P35626 ARBK2_HUMAN adrenergic, beta, receptor kinase 2 633 PH. ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2) 32 Adenosine triphosphate(DB00171) TTGTCTTGCAATGTGAGGTGA 0.308000 27 62 0 0 0.005443 0 0 TICAM1 148022 broad.mit.edu 37 19 4817290 4817290 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:4817290G>A ENST00000248244.5 - 2 1329 c.1100C>T c.(1099-1101)cCt>cTt p.P367L NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 367 Pro-rich. apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) AGTAGATGAaggaggaggagg 0.522000 16 14 0 0 0.003163 0 0 EGFLAM 133584 broad.mit.edu 37 5 38370428 38370428 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:38370428C>T ENST00000322350.5 + 6 922 c.576C>T c.(574-576)atC>atT p.I192I EGFLAM_ENST00000354891.3_Silent_p.I192I NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 192 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) GGACCTCAATCCATGAGCGGA 0.488000 21 8 0 0 0.003330 0 0 MGA 23269 broad.mit.edu 37 15 42059094 42059094 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:42059094C>T ENST00000219905.7 + 24 8995 c.8814C>T c.(8812-8814)ctC>ctT p.L2938L MGA_ENST00000570161.1_Silent_p.L2938L|MGA_ENST00000389936.4_Silent_p.L2899L|MGA_ENST00000566586.1_Silent_p.L2729L|MGA_ENST00000545763.1_Silent_p.L2729L NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 2899 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AGGATTCCCTCCTTTCCAACA 0.458000 13 32 0 0 0.002450 0 0 RNF10 9921 broad.mit.edu 37 12 121009075 121009075 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:121009075C>T ENST00000325954.4 + 14 2584 c.2123C>T c.(2122-2124)cCc>cTc p.P708L RNF10_ENST00000542701.1_Intron|RNF10_ENST00000413266.2_Missense_Mutation_p.P713L NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 708 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GAAGACTCTCCCTTCCCTTCC 0.527000 12 44 0 0 0.001368 0 0 PLCB4 5332 broad.mit.edu 37 20 9388564 9388564 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:9388564G>A ENST00000378501.2 + 18 1627 c.1611_splice c.e18-1 p.G538_splice PLCB4_ENST00000278655.4_Splice_Site_p.G538_splice|PLCB4_ENST00000414679.2_Splice_Site_p.G550_splice|PLCB4_ENST00000334005.3_Splice_Site_p.G538_splice|PLCB4_ENST00000378493.1_Splice_Site_p.G538_splice|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Splice_Site_p.G550_splice NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 538 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 GTGCTTGTAGGGCCTGGTCAC 0.408000 23 46 0 0 0.005443 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120377 38120377 + Missense_Mutation SNP G G C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:38120377G>C ENST00000406386.3 + 7 2069 c.1814G>C c.(1813-1815)cGg>cCg p.R605P RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 605 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) TGTGCCCAGCGGGACAATCCC 0.587000 11 61 0 0 0.000673 0 0 CARS2 79587 broad.mit.edu 37 13 111303383 111303383 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:111303383G>A ENST00000257347.4 - 10 1115 c.1052C>T c.(1051-1053)tCa>tTa p.S351L CARS2_ENST00000535398.1_5'UTR NM_024537.2 NP_078813.1 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial (putative) 351 cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1) 13 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) CGGCTCACCTGAGCGGTAGCT 0.562000 22 37 0 0 0.002299 0 0 UGT1A4 54657 broad.mit.edu 37 2 234627950 234627950 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:234627950G>A ENST00000373409.3 + 1 527 c.484G>A c.(484-486)Gct>Act p.A162T UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Intron NM_007120.2 NP_009051.1 autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) GGCGGTGCTGGCTAAGTACCT 0.478000 36 89 0 0 0.005524 0 0 FAM115A 9747 broad.mit.edu 37 7 143573477 143573477 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:143573477G>A ENST00000479870.1 - 2 433 c.225C>T c.(223-225)ccC>ccT p.P75P FAM115A_ENST00000392900.3_Intron|FAM115A_ENST00000355951.2_Silent_p.P75P NM_001206938.1|NM_001206941.1|NM_014719.2 NP_001193867.1|NP_001193870.1|NP_055534.1 Q9Y4C2 F115A_HUMAN family with sequence similarity 115, member A 75 NS(1)|endometrium(1)|lung(5) 7 Melanoma(164;0.0903) TCAGGAGAAAGGGCGTGAGCT 0.612000 7 17 0 0 0.004482 0 0 MINK1 50488 broad.mit.edu 37 17 4789256 4789256 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:4789256C>T ENST00000355280.6 + 8 886 c.690C>T c.(688-690)gcC>gcT p.A230A MINK1_ENST00000453408.3_Silent_p.A230A|MINK1_ENST00000347992.7_Silent_p.A230A NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 230 Protein kinase. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 CAGAGGGAGCCCCCCGTAAGT 0.567000 9 7 0 0 0.000673 0 0 SPATA31C1 441452 broad.mit.edu 37 9 90534094 90534094 + RNA SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:90534094C>T ENST00000602681.1 + 0 840 CCATGCGGTTCATGAGTGCAG 0.537000 3 4 0 0 0.000248 0 0 ASB15 142685 broad.mit.edu 37 7 123257671 123257671 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:123257671G>A ENST00000451558.1 + 9 852 c.331G>A c.(331-333)Gga>Aga p.G111R ASB15_ENST00000434204.1_Missense_Mutation_p.G111R|RP11-390E23.3_ENST00000422401.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000275699.3_Missense_Mutation_p.G111R|ASB15_ENST00000540573.1_Missense_Mutation_p.G111R|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000451215.1_Missense_Mutation_p.G111R Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 111 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 GACCTGTGATGGAGAAACACC 0.378000 22 50 0 0 0.005443 0 0 LRP5 4041 broad.mit.edu 37 11 68216526 68216526 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:68216526G>A ENST00000294304.7 + 23 4942 c.4836G>A c.(4834-4836)acG>acA p.T1612T LRP5_ENST00000529481.1_3'UTR NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1612 adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCCCCTGCACGGACTCATCCT 0.542000 11 32 0 0 0.001368 0 0 NFATC4 4776 broad.mit.edu 37 14 24841745 24841745 + Missense_Mutation SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:24841745A>G ENST00000413692.2 + 4 1628 c.1484A>G c.(1483-1485)cAc>cGc p.H495R NFATC4_ENST00000556279.1_Missense_Mutation_p.H464R|NFATC4_ENST00000554344.1_Missense_Mutation_p.H362R|NFATC4_ENST00000556169.1_Missense_Mutation_p.H420R|NFATC4_ENST00000554050.1_Missense_Mutation_p.H432R|NFATC4_ENST00000424781.2_Missense_Mutation_p.H445R|NFATC4_ENST00000555590.1_Missense_Mutation_p.H445R|NFATC4_ENST00000554661.1_Missense_Mutation_p.H362R|NFATC4_ENST00000555453.1_Missense_Mutation_p.H420R|NFATC4_ENST00000539237.2_Missense_Mutation_p.H464R|NFATC4_ENST00000422617.3_Missense_Mutation_p.H420R|NFATC4_ENST00000553879.1_Missense_Mutation_p.H362R|NFATC4_ENST00000554966.1_Missense_Mutation_p.H445R|NFATC4_ENST00000250373.4_Missense_Mutation_p.H432R|NFATC4_ENST00000553469.1_Missense_Mutation_p.H464R|NFATC4_ENST00000554591.1_Missense_Mutation_p.H495R|NFATC4_ENST00000553708.1_Missense_Mutation_p.H432R|NFATC4_ENST00000557451.1_Missense_Mutation_p.H362R NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 432 RHD. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) CACCGGGCCCACTATGAGACA 0.612000 8 30 0 0 0.004482 0 0 CFH 3075 broad.mit.edu 37 1 196659222 196659222 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:196659222G>A ENST00000367429.4 + 9 1429 c.1189G>A c.(1189-1191)Gga>Aga p.G397R CFH_ENST00000439155.2_Missense_Mutation_p.G397R|CFH_ENST00000359637.2_Missense_Mutation_p.G333R NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 397 Sushi 7. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TTTGGAAAATGGATATAATCA 0.328000 4 14 0 0 0.000248 0 0 MYO1H 283446 broad.mit.edu 37 12 109853352 109853352 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:109853352G>A ENST00000310903.5 + 15 1582 c.1476G>A c.(1474-1476)aaG>aaA p.K492K MYO1H_ENST00000431443.2_Silent_p.K502K B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 CTGGTCCAAAGGGCCGAAAGA 0.517000 3 2 0 0 0.000602 0 0 MAB21L1 4081 broad.mit.edu 37 13 36049943 36049943 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:36049943G>A ENST00000379919.4 - 1 889 c.333C>T c.(331-333)tcC>tcT p.S111S NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron NM_005584.4 NP_005575.1 Q13394 MB211_HUMAN mab-21-like 1 (C. elegans) 111 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) CCACCCAGAGGGACATGCTCC 0.577000 12 24 0 0 0.000978 0 0 EFCAB7 84455 broad.mit.edu 37 1 64038153 64038153 + Nonsense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:64038153G>A ENST00000371088.4 + 14 2102 c.1856G>A c.(1855-1857)tGg>tAg p.W619* EFCAB7_ENST00000461039.1_3'UTR NM_032437.2 NP_115813.2 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 619 calcium ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 CGACAAGAATGGATATATTAT 0.239000 8 24 0 0 0.003080 0 0 BTNL8 79908 broad.mit.edu 37 5 180377111 180377111 + Missense_Mutation SNP T T G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:180377111T>G ENST00000340184.4 + 8 1276 c.1070T>G c.(1069-1071)gTg>gGg p.V357G BTNL8_ENST00000505126.1_Missense_Mutation_p.V150G|BTNL8_ENST00000511704.1_Missense_Mutation_p.V241G|BTNL8_ENST00000400707.3_Missense_Mutation_p.V232G|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000533815.2_Missense_Mutation_p.V173G NM_001040462.2 NP_001035552.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 357 B30.2/SPRY. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGCGTGGGAGTGTGCCGGGAT 0.502000 18 12 0 0 0.001216 0 0 RAPH1 65059 broad.mit.edu 37 2 204304926 204304926 + Missense_Mutation SNP G G A rs147887694 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:204304926G>A ENST00000319170.5 - 14 3286 c.2987C>T c.(2986-2988)tCg>tTg p.S996L RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Missense_Mutation_p.S1048L NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 996 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACTGTCCACCGAGGGTCTCTT 0.597000 26 59 0 0 0.007291 0 0 CACNA1E 777 broad.mit.edu 37 1 181767742 181767742 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:181767742C>T ENST00000526775.1 + 46 6693 c.6528C>T c.(6526-6528)gaC>gaT p.D2176D CACNA1E_ENST00000367567.4_Silent_p.D1802D|CACNA1E_ENST00000357570.5_Silent_p.D2189D|CACNA1E_ENST00000360108.3_Silent_p.D2219D|CACNA1E_ENST00000358338.5_Silent_p.D2127D|CACNA1E_ENST00000367573.2_Silent_p.D2238D|CACNA1E_ENST00000367570.1_Silent_p.D2195D NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2238 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 TGCACGAAGACTCCCACGCCT 0.632000 4 8 0 0 0.000248 0 0 FNDC3B 64778 broad.mit.edu 37 3 172048392 172048392 + Missense_Mutation SNP C C A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:172048392C>A ENST00000336824.4 + 13 1540 c.1441C>A c.(1441-1443)Cca>Aca p.P481T FNDC3B_ENST00000415807.2_Missense_Mutation_p.P481T|FNDC3B_ENST00000416957.1_Missense_Mutation_p.P481T NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 481 Fibronectin type-III 3. P -> L (in Ref. 2; AAQ88513). endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) GCCTTCTGCACCAAGGCTGGT 0.493000 11 33 3.07112e-06 3.99475e-06 0.000978 1 0 KDM4D 55693 broad.mit.edu 37 11 94731693 94731693 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:94731693C>T ENST00000335080.5 + 3 1989 c.1157C>T c.(1156-1158)cCt>cTt p.P386L KDM4D_ENST00000536741.1_Missense_Mutation_p.P386L NM_018039.2 NP_060509.2 Q6B0I6 KDM4D_HUMAN lysine (K)-specific demethylase 4D 386 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CGGCATTCCCCTTGGCCTATG 0.642000 6 11 0 0 0.001984 0 0 SORT1 6272 broad.mit.edu 37 1 109869750 109869750 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:109869750G>A ENST00000256637.6 - 13 1565 c.1507C>T c.(1507-1509)Cca>Tca p.P503S SORT1_ENST00000538502.1_Missense_Mutation_p.P366S NM_002959.5 NP_002950.3 Q99523 SORT_HUMAN sortilin 1 503 endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) TACACATCTGGAACCATCACT 0.478000 91 191 0 0 0.003610 0 0 LARP4B 23185 broad.mit.edu 37 10 888923 888923 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:888923G>A ENST00000316157.3 - 6 635 c.595C>T c.(595-597)Cac>Tac p.H199Y NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 199 HTH La-type RNA-binding. 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 TTCTTGATGTGGTCGAGGTTA 0.388000 10 22 0 0 0.006214 0 0 POU6F2 11281 broad.mit.edu 37 7 39446295 39446295 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:39446295C>T ENST00000518318.2 + 6 1024 c.982C>T c.(982-984)Ctt>Ttt p.L328F POU6F2_ENST00000559001.1_Intron|POU6F2_ENST00000403058.1_Missense_Mutation_p.L328F P78424 PO6F2_HUMAN POU class 6 homeobox 2 328 Gln-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 CCTCTCCAGTCTTCAGGGGGT 0.517000 16 26 0 0 0.003163 0 0 NOS1 4842 broad.mit.edu 37 12 117703233 117703233 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:117703233C>T ENST00000317775.6 - 12 2709 c.2024G>A c.(2023-2025)gGg>gAg p.G675E NOS1_ENST00000338101.4_Missense_Mutation_p.G675E|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 675 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) AGGGCAGCCCCCCCGGCAGCG 0.607000 8 5 0 0 0.003080 0 0 TMCO4 255104 broad.mit.edu 37 1 20066335 20066335 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:20066335G>A ENST00000294543.6 - 12 1402 c.1161C>T c.(1159-1161)atC>atT p.I387I TMCO4_ENST00000375122.2_Silent_p.I347I|TMCO4_ENST00000375127.1_Silent_p.I387I NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 387 integral to membrane biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) GGGAGAGCAGGATGTGGGCCA 0.592000 15 31 0 0 0.002450 0 0 SLC22A6 9356 broad.mit.edu 37 11 62752030 62752030 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:62752030G>A ENST00000377871.3 - 1 399 c.133C>T c.(133-135)Cct>Tct p.P45S SLC22A6_ENST00000421062.2_Missense_Mutation_p.P45S|SLC22A6_ENST00000360421.4_Missense_Mutation_p.P45S|SLC22A6_ENST00000458333.2_Missense_Mutation_p.P45S NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 45 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 TGGTGGGTAGGGATGGCAGCA 0.667000 3 14 0 0 0.004672 0 0 TICAM2 353376 broad.mit.edu 37 5 114916925 114916925 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:114916925G>A ENST00000427199.2 - 2 470 c.29C>T c.(28-30)tCc>tTc p.S10F TMED7-TICAM2_ENST00000333314.3_3'UTR|TICAM2_ENST00000408996.4_Intron|TMED7-TICAM2_ENST00000282382.4_Intron NM_021649.6 NP_067681.1 toll-like receptor adaptor molecule 2 cervix(1)|kidney(1)|lung(2)|soft_tissue(1) 5 all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05) AAGAGGGCAGGAATTTATTTT 0.373000 22 20 0 0 0.003330 0 0 MYO7A 4647 broad.mit.edu 37 11 76870559 76870559 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:76870559C>T ENST00000409709.3 + 10 1342 c.1070C>T c.(1069-1071)tCc>tTc p.S357F MYO7A_ENST00000409619.2_Missense_Mutation_p.S346F|MYO7A_ENST00000458637.2_Missense_Mutation_p.S357F|MYO7A_ENST00000409893.1_Missense_Mutation_p.S357F NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 357 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 ACAGCTGCATCCCTGCTTGAG 0.572000 27 36 0 0 0.001786 0 0 JAK1 3716 broad.mit.edu 37 1 65301109 65301109 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:65301109G>A ENST00000342505.4 - 24 3587 c.3339C>T c.(3337-3339)cgC>cgT p.R1113R NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 1113 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) GGCACGGCAGGCGTTTTCCTT 0.423000 Mis ALL 19 66 0 0 0.001882 0 0 ANKRD27 84079 broad.mit.edu 37 19 33130265 33130265 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:33130265G>A ENST00000306065.4 - 12 1271 c.1113C>T c.(1111-1113)ccC>ccT p.P371P ANKRD27_ENST00000587352.1_Silent_p.P371P NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 371 VPS9. early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) ATCTTACAGGGGGTTTAGCAG 0.507000 13 32 0 0 0.002450 0 0 RYR2 6262 broad.mit.edu 37 1 237758937 237758937 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:237758937G>A ENST00000366574.2 + 34 4893 c.4576G>A c.(4576-4578)Gaa>Aaa p.E1526K RYR2_ENST00000542537.1_Missense_Mutation_p.E1510K|RYR2_ENST00000360064.6_Missense_Mutation_p.E1524K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1526 4 X approximate repeats.|B30.2/SPRY 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAATGGCAAGGAACTGAGCAC 0.498000 8 11 0 0 0.000978 0 0 SNHG14 104472715 broad.mit.edu 37 15 25430721 25430721 + RNA SNP G G T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:25430721G>T ENST00000424208.1 + 0 582 NR_003305.1 ACTGAGGTGTGGTGAGTCCAT 0.582000 34 46 9.65021e-13 1.26296e-12 0.002096 1 0 IGKV1-8 28942 broad.mit.edu 37 2 89292083 89292083 + RNA SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:89292083G>A ENST00000495489.1 - 0 242 AGGAGCTTAGGGGCTTTCCCT 0.502000 18 26 0 0 0.001882 0 0 ACE 1636 broad.mit.edu 37 17 61571793 61571793 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:61571793G>A ENST00000577647.1 + 11 1665 c.1620G>A c.(1618-1620)ggG>ggA p.G540G ACE_ENST00000428043.1_Silent_p.G1114G|ACE_ENST00000413513.3_Silent_p.G540G|ACE_ENST00000290866.4_Silent_p.G1114G|ACE_ENST00000421982.2_Silent_p.G360G|ACE_ENST00000290863.6_Silent_p.G540G|ACE_ENST00000490216.2_Silent_p.G540G P12821 ACE_HUMAN angiotensin I converting enzyme 1114 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) TTGACCCAGGGGCCAAGTTCC 0.542000 11 48 0 0 0.001368 0 0 RSL1D1 26156 broad.mit.edu 37 16 11931870 11931870 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:11931870G>A ENST00000571133.1 - 9 1319 c.1247C>T c.(1246-1248)cCa>cTa p.P416L RSL1D1_ENST00000542106.1_Missense_Mutation_p.P196L NM_015659.2 NP_056474.2 O76021 RL1D1_HUMAN ribosomal L1 domain containing 1 416 regulation of protein localization|translation large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 15 tgcagcttttggggtctcaga 0.473000 95 176 0 0 0.003610 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47585801 47585801 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:47585801C>T ENST00000371917.4 + 9 1177 c.1177C>T c.(1177-1179)Cct>Tct p.P393S NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 393 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TGGTGAAGGCCCTCCAGACCC 0.527000 29 40 0 0 0.002445 0 0 ATP8A1 10396 broad.mit.edu 37 4 42558049 42558049 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:42558049G>A ENST00000381668.5 - 16 1580 c.1349C>T c.(1348-1350)tCa>tTa p.S450L ATP8A1_ENST00000264449.10_Missense_Mutation_p.S435L NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 450 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) TCCAAACTGTGAGTTCTGCCT 0.328000 7 12 0 0 0.001984 0 0 TET1 80312 broad.mit.edu 37 10 70446316 70446316 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:70446316C>T ENST00000373644.4 + 11 5465 c.5256C>T c.(5254-5256)ccC>ccT p.P1752P NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1752 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 AGCCTGTTCCCCGTTCTGGAA 0.502000 21 44 0 0 0.001523 0 0 LOC102724332 102724332 broad.mit.edu 37 2 89161525 89161525 + RNA SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:89161525C>T ENST00000430694.1 - 0 593 AAGCTCAACTCCCTTTTCGAG 0.463000 5 6 0 0 0.000602 0 0 ERO1LB 56605 broad.mit.edu 37 1 236399106 236399106 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:236399106G>A ENST00000354619.5 - 8 857 c.656C>T c.(655-657)cCt>cTt p.P219L NM_019891.3 NP_063944.3 Q86YB8 ERO1B_HUMAN ERO1-like beta (S. cerevisiae) 219 electron transport chain|protein thiol-disulfide exchange|transport endoplasmic reticulum membrane flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1) 23 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219) OV - Ovarian serous cystadenocarcinoma(106;0.00162) AGGCGCCAGAGGATTTAAAGG 0.299000 13 15 0 0 0.006122 0 0 AOAH 313 broad.mit.edu 37 7 36657942 36657942 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:36657942G>A ENST00000431169.1 - 10 1012 c.712C>T c.(712-714)Cca>Tca p.P238S AOAH_ENST00000258749.5_Missense_Mutation_p.P238S|AOAH_ENST00000535891.1_Missense_Mutation_p.P206S NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 238 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 CCATCTTTTGGATCGACACCC 0.318000 17 26 0 0 0.001216 0 0 MYBPC2 4606 broad.mit.edu 37 19 50944138 50944138 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:50944138G>A ENST00000357701.5 + 8 625 c.572_splice c.e8-1 p.E192_splice NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 192 cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) ACCCGCCAGGGAGGTGGTGGA 0.572000 4 14 0 0 0.001168 0 0 PCDHGA10 56106 broad.mit.edu 37 5 140793642 140793642 + Missense_Mutation SNP A A T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:140793642A>T ENST00000398610.2 + 1 900 c.900A>T c.(898-900)aaA>aaT p.K300N PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACTAAACAAATATACTGGAG 0.378000 5 4 0 0 0.000602 0 0 PLCB1 23236 broad.mit.edu 37 20 8713958 8713958 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:8713958C>T ENST00000378641.3 + 19 2437 c.1962C>T c.(1960-1962)ttC>ttT p.F654F PLCB1_ENST00000338037.6_Silent_p.F654F|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Silent_p.F654F NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 654 PI-PLC Y-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 AGCCAGAGTTCATGAGGAGGC 0.423000 20 36 0 0 0.001216 0 0 TRPM3 80036 broad.mit.edu 37 9 73152011 73152011 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:73152011G>A ENST00000377110.2 - 25 4225 c.3982C>T c.(3982-3984)Cca>Tca p.P1328S TRPM3_ENST00000357533.2_Missense_Mutation_p.P1332S|TRPM3_ENST00000423814.3_Missense_Mutation_p.P1355S|TRPM3_ENST00000377105.1_Missense_Mutation_p.P1187S|TRPM3_ENST00000377106.1_Missense_Mutation_p.P1200S|TRPM3_ENST00000408909.2_Missense_Mutation_p.P1187S|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396280.5_Missense_Mutation_p.P1177S|TRPM3_ENST00000396285.1_Missense_Mutation_p.P1187S|TRPM3_ENST00000358082.3_Missense_Mutation_p.P1190S|TRPM3_ENST00000396292.4_Missense_Mutation_p.P1200S|TRPM3_ENST00000360823.2_Missense_Mutation_p.P1190S NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1353 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 ATTAAGGTTGGAGAAGTTGGG 0.453000 25 93 0 0 0.003954 0 0 SRGAP1 57522 broad.mit.edu 37 12 64491137 64491137 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:64491137G>A ENST00000355086.3 + 15 2319 c.1795G>A c.(1795-1797)Gat>Aat p.D599N SRGAP1_ENST00000543397.1_Missense_Mutation_p.D536N|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.D576N NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 599 Rho-GAP. axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) AAGATTTAACGATCTGATTTC 0.423000 15 20 0 0 0.006122 0 0 RYR3 6263 broad.mit.edu 37 15 34030784 34030784 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:34030784C>T ENST00000389232.4 + 50 7719 c.7649C>T c.(7648-7650)tCc>tTc p.S2550F RYR3_ENST00000415757.3_Missense_Mutation_p.S2550F NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2550 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) GACTCGCTCTCCCATAAGGTA 0.468000 OREG0023032 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 44 0 0 0.003330 0 0 OTOF 9381 broad.mit.edu 37 2 26702454 26702454 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:26702454C>T ENST00000272371.2 - 17 2106 c.1980G>A c.(1978-1980)ggG>ggA p.G660G OTOF_ENST00000403946.3_Silent_p.G660G NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 660 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) CTTCCTCATCCCCCGGCTCCT 0.637000 11 25 0 0 0.000978 0 0 MAPK10 5602 broad.mit.edu 37 4 87115524 87115524 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:87115524C>T ENST00000359221.3 - 3 557 c.31G>A c.(31-33)Gaa>Aaa p.E11K MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000361569.2_Missense_Mutation_p.E11K|MAPK10_ENST00000449047.2_5'UTR|RP11-778J15.1_ENST00000511917.1_RNA|MAPK10_ENST00000395161.2_Missense_Mutation_p.E11K|MAPK10_ENST00000395169.3_5'UTR|MAPK10_ENST00000395166.1_5'UTR P53779 MK10_HUMAN mitogen-activated protein kinase 10 11 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) AATGTTGGTTCACTGCAGTAG 0.333000 45 120 0 0 0.003610 0 0 NOTCH3 4854 broad.mit.edu 37 19 15273333 15273333 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:15273333C>T ENST00000263388.2 - 32 5931 c.5856G>A c.(5854-5856)gtG>gtA p.V1952V NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1952 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.V1952V(2) breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) AAGTGGCTTCCACGTTGTTCA 0.587000 10 47 0 0 0.001855 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111795735 111795735 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:111795735C>T ENST00000452346.2 + 16 1971 c.1968C>T c.(1966-1968)ccC>ccT p.P656P TMPRSS7_ENST00000419127.1_Silent_p.P530P Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 656 Peptidase S1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TGTCAGATCCCACACCATGGA 0.453000 32 68 0 0 0.006230 0 0 DST 667 broad.mit.edu 37 6 56480971 56480971 + Missense_Mutation SNP C C T rs143148236 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:56480971C>T ENST00000370765.6 - 24 7401 c.7294G>A c.(7294-7296)Gat>Aat p.D2432N DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1751 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AGCAAAGAATCAGCAAGTTCT 0.438000 22 23 0 0 0.004656 0 0 ABCA8 10351 broad.mit.edu 37 17 66925719 66925719 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:66925719G>A ENST00000269080.2 - 7 1059 c.922C>T c.(922-924)Ctg>Ttg p.L308L ABCA8_ENST00000586539.1_Silent_p.L308L|ABCA8_ENST00000430352.2_Silent_p.L308L NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 308 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) AATCCATACAGGAGAAAGAGG 0.378000 21 63 0 0 0.002299 0 0 SLC5A2 6524 broad.mit.edu 37 16 31497553 31497553 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:31497553C>T ENST00000330498.3 + 5 550 c.531C>T c.(529-531)tcC>tcT p.S177S NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 177 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 TCTATGCCTCCGTCATCGCGC 0.602000 20 25 0 0 0.002299 0 0 HFM1 164045 broad.mit.edu 37 1 91845776 91845776 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:91845776C>T ENST00000370425.3 - 8 989 c.891G>A c.(889-891)agG>agA p.R297R HFM1_ENST00000370424.3_5'UTR|HFM1_ENST00000294696.5_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 297 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TCACAAAATTCCTATCTGTGT 0.299000 24 58 0 0 0.003954 0 0 HSPA6 3310 broad.mit.edu 37 1 161495847 161495847 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:161495847C>T ENST00000309758.4 + 1 1812 c.1399C>T c.(1399-1401)Cct>Tct p.P467S NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 467 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) CAGTGGCATCCCTCCTGCCCC 0.567000 26 31 0 0 0.005443 0 0 NAA40 79829 broad.mit.edu 37 11 63714427 63714427 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:63714427G>A ENST00000377793.4 + 3 208 c.107G>A c.(106-108)gGa>gAa p.G36E NAA40_ENST00000539656.1_Missense_Mutation_p.G36E|NAA40_ENST00000536939.1_3'UTR|NAA40_ENST00000542163.1_Missense_Mutation_p.G15E|NAA40_ENST00000456907.2_Intron NM_024771.2 NP_079047.2 Q86UY6 NAA40_HUMAN N(alpha)-acetyltransferase 40, NatD catalytic subunit 36 N-acetyltransferase activity NS(1)|endometrium(1)|lung(2)|prostate(1) 5 CCACAGCTTGGAGACCCTCTG 0.512000 24 43 0 0 0.002096 0 0 NCAM1 4684 broad.mit.edu 37 11 113103520 113103520 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:113103520C>T ENST00000316851.7 + 11 1476 c.1476C>T c.(1474-1476)ttC>ttT p.F492F NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.F501F|NCAM1_ENST00000533760.1_Silent_p.F374F NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 502 Ig-like C2-type 5. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) CCTTGGAATTCATCCTTGTTC 0.498000 15 11 0 0 0.007413 0 0 LRP1B 53353 broad.mit.edu 37 2 141625795 141625795 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:141625795G>A ENST00000389484.3 - 26 5178 c.4207C>T c.(4207-4209)Cgc>Tgc p.R1403C NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1403 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) GATTCAATGCGAGGAAAATTT 0.353000 TSP Lung(27;0.18) 20 26 0 0 0.007413 0 0 ZNF79 7633 broad.mit.edu 37 9 130206352 130206352 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:130206352G>A ENST00000342483.5 + 5 779 c.373G>A c.(373-375)Gaa>Aaa p.E125K ZNF79_ENST00000543471.1_Missense_Mutation_p.E101K NM_007135.2 NP_009066.2 Q15937 ZNF79_HUMAN zinc finger protein 79 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2) 28 AGCCCTTTCTGAAGCTTCATT 0.483000 26 44 0 0 0.007291 0 0 C9orf50 375759 broad.mit.edu 37 9 132377835 132377835 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:132377835G>A ENST00000372478.4 - 4 1009 c.808C>T c.(808-810)Cct>Tct p.P270S NTMT1_ENST00000372486.1_Intron NM_199350.3 NP_955382.3 Q5SZB4 CI050_HUMAN chromosome 9 open reading frame 50 270 central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1) 10 Ovarian(14;0.00556) ACCCGGAAAGGGCAACGCTGC 0.662000 16 42 0 0 0.006122 0 0 TENM2 57451 broad.mit.edu 37 5 167489217 167489217 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:167489217G>A ENST00000519204.1 + 6 1217 c.1099G>A c.(1099-1101)Gac>Aac p.D367N TENM2_ENST00000545108.1_Missense_Mutation_p.D488N|TENM2_ENST00000520394.1_Missense_Mutation_p.D256N|TENM2_ENST00000403607.2_Missense_Mutation_p.D321N|TENM2_ENST00000518659.1_Missense_Mutation_p.D488N teneurin transmembrane protein 2 CCTCGGGAAGGACGCTCTCTT 0.443000 15 25 0 0 0.001216 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105912847 105912847 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:105912847C>T ENST00000393359.2 - 4 1430 c.1004G>A c.(1003-1005)gGa>gAa p.G335E TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.G335E Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 335 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 CCTCCGGGCTCCTTTTGCTAA 0.393000 20 64 0 0 0.001882 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146829419 146829419 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:146829419G>A ENST00000361727.3 + 8 1682 c.1166G>A c.(1165-1167)cGg>cAg p.R389Q NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 389 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.R389Q(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GTGCCCGGACGGCTTAACCAG 0.468000 HNSCC(39;0.1) 22 39 0 0 0.002299 0 0 CX3CL1 6376 broad.mit.edu 37 16 57416935 57416935 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:57416935G>A ENST00000565912.1 + 2 3777 c.1071G>A c.(1069-1071)gtG>gtA p.V357V CX3CL1_ENST00000006053.6_Silent_p.V395V|CX3CL1_ENST00000563383.1_Silent_p.V401V P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 395 cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 ATGTCCTGGTGCCCGTGTGAA 0.592000 31 76 0 0 0.004878 0 0 CCNDBP1 23582 broad.mit.edu 37 15 43478432 43478432 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:43478432G>A ENST00000300213.4 + 3 491 c.e3+1 EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_Splice_Site NM_012142.4 NP_036274.3 O95273 CCDB1_HUMAN cyclin D-type binding-protein 1 cell cycle cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 13 all_cancers(109;3.31e-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;8.42e-07) GTCTCCACAGGTGGGCTTCAC 0.532000 6 5 0 0 0.001984 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85450714 85450714 + Missense_Mutation SNP T T G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:85450714T>G ENST00000393217.2 + 8 2204 c.2143T>G c.(2143-2145)Tgc>Ggc p.C715G NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 715 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TTCAGAAAAATGCCATGAAAA 0.383000 72 152 0 0 0.003610 0 0 AKR1D1 6718 broad.mit.edu 37 7 137790091 137790091 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:137790091C>T ENST00000242375.3 + 5 537 c.495C>T c.(493-495)tcC>tcT p.S165S AKR1D1_ENST00000432161.1_Silent_p.S165S|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Intron NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 165 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 TGGTGAAATCCCTGGGAGTGT 0.483000 33 81 0 0 0.002445 0 0 TTN 7273 broad.mit.edu 37 2 179477694 179477694 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179477694G>A ENST00000589042.1 - 265 49978 c.49754C>T c.(49753-49755)tCt>tTt p.S16585F TTN_ENST00000342175.6_Missense_Mutation_p.S7712F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S14017F|TTN_ENST00000359218.5_Missense_Mutation_p.S7645F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S7520F|TTN_ENST00000591111.1_Missense_Mutation_p.S14944F|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14944 Fibronectin type-III 20. 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) AATGACATAAGACTCAATCTT 0.483000 11 27 0 0 0.000673 0 0 ZNF19 7567 broad.mit.edu 37 16 71509998 71509998 + Missense_Mutation SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:71509998A>G ENST00000288177.5 - 6 707 c.452T>C c.(451-453)gTt>gCt p.V151A ZNF19_ENST00000565637.1_Missense_Mutation_p.V109A|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000565100.2_Missense_Mutation_p.V81A|ZNF19_ENST00000564230.1_Missense_Mutation_p.V151A|ZNF19_ENST00000567225.1_Intron NM_006961.3 NP_008892.2 P17023 ZNF19_HUMAN zinc finger protein 19 151 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1) 22 Ovarian(137;0.00965) BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598) GATTCTTGGAACCTTTCCTTG 0.458000 12 16 0 0 0.001368 0 0 ZNF233 353355 broad.mit.edu 37 19 44777201 44777201 + Silent SNP A A C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:44777201A>C ENST00000391958.2 + 5 515 c.388A>C c.(388-390)Agg>Cgg p.R130R ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Intron|ZNF235_ENST00000589799.1_Intron NM_181756.2 NP_861421.2 A6NK53 ZN233_HUMAN zinc finger protein 233 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) TCAAGGCAAGAGGTCCAAGTT 0.378000 13 26 0 0 0.001855 0 0 LLGL1 3996 broad.mit.edu 37 17 18143971 18143971 + Silent SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:18143971A>G ENST00000316843.4 + 17 2382 c.2286A>G c.(2284-2286)gcA>gcG p.A762A NM_004140.3 NP_004131.3 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 762 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) TGCCGGCAGCAGCAGTGGGTG 0.662000 18 21 0 0 0.004990 0 0 SCN4A 6329 broad.mit.edu 37 17 62050004 62050004 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:62050004C>T ENST00000578147.1 - 1 274 c.198G>A c.(196-198)atG>atA p.M66I SCN4A_ENST00000435607.1_Missense_Mutation_p.M66I P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 66 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) CTCCGTAGATCATGGGTAGGT 0.602000 9 6 0 0 0.004482 0 0 CASC4 113201 broad.mit.edu 37 15 44581414 44581414 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:44581414C>T ENST00000299957.6 + 1 486 c.187C>T c.(187-189)Ctg>Ttg p.L63L CASC4_ENST00000360824.3_Silent_p.L63L|CASC4_ENST00000429162.2_3'UTR|CASC4_ENST00000345795.2_Silent_p.L63L NM_138423.3 NP_612432.2 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 63 integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2) 17 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) CCGCGGGCGGCTGGAAAAGCG 0.642000 9 22 0 0 0.000673 0 0 RRP9 9136 broad.mit.edu 37 3 51969227 51969227 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:51969227G>A ENST00000232888.6 - 11 1093 c.1020C>T c.(1018-1020)tcC>tcT p.S340S NM_004704.3 NP_004695.1 O43818 U3IP2_HUMAN ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) 340 rRNA processing nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex RNA binding breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1) 21 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724) CGTCCGCGCCGGACACCATGT 0.632000 16 37 0 0 0.007413 0 0 NLRP7 199713 broad.mit.edu 37 19 55451105 55451105 + Missense_Mutation SNP G G A rs143169084 byFrequency TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:55451105G>A ENST00000446217.1 - 6 1568 c.1166C>T c.(1165-1167)tCg>tTg p.S389L NLRP7_ENST00000448121.2_Missense_Mutation_p.S361L|NLRP7_ENST00000592784.1_Missense_Mutation_p.S361L|NLRP7_ENST00000340844.2_Missense_Mutation_p.S361L|NLRP7_ENST00000328092.5_Missense_Mutation_p.S361L|NLRP7_ENST00000590030.1_Missense_Mutation_p.S361L|NLRP7_ENST00000588756.1_Missense_Mutation_p.S361L Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 361 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) CGCGGGGGCCGAGCCCAGCTG 0.632000 7 28 0 0 0.003080 0 0 HAPLN3 145864 broad.mit.edu 37 15 89422478 89422478 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:89422478G>A ENST00000359595.3 - 4 730 c.516C>T c.(514-516)tcC>tcT p.S172S HAPLN3_ENST00000562889.1_Silent_p.S234S NM_178232.2 NP_839946.1 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 172 Link 1. 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) GCCCGTTGGGGGACTGGTAAG 0.652000 OREG0023445 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 24 0 0 0.006122 0 0 CNTN6 27255 broad.mit.edu 37 3 1363427 1363427 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:1363427G>A ENST00000446702.2 + 8 1482 c.855G>A c.(853-855)ccG>ccA p.P285P CNTN6_ENST00000539053.1_Silent_p.P213P|CNTN6_ENST00000350110.2_Silent_p.P285P Q9UQ52 CNTN6_HUMAN contactin 6 285 Ig-like C2-type 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TTGAAATCCCGAACTTCCAAC 0.453000 32 32 0 0 0.003271 0 0 PPFIA2 8499 broad.mit.edu 37 12 81769697 81769697 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:81769697C>T ENST00000550584.2 - 9 1304 c.1009G>A c.(1009-1011)Gaa>Aaa p.E337K PPFIA2_ENST00000443686.3_Missense_Mutation_p.E238K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E184K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E263K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E319K|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E337K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E337K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E319K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E337K NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 263 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 ATTCTTTCTTCCATATCTTCC 0.313000 15 36 0 0 0.004990 0 0 KCNMA1 3778 broad.mit.edu 37 10 78637626 78637626 + Silent SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:78637626T>C ENST00000404771.3 - 30 3853 c.3738A>G c.(3736-3738)gaA>gaG p.E1246E KCNMA1_ENST00000372440.1_3'UTR|KCNMA1_ENST00000372443.1_3'UTR Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 0 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CATTATCCGGTTCATCTGTAA 0.398000 6 8 0 0 0.001984 0 0 ZC3H4 23211 broad.mit.edu 37 19 47597674 47597674 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:47597674G>A ENST00000253048.5 - 3 390 c.353C>T c.(352-354)tCg>tTg p.S118L ZC3H4_ENST00000594019.1_5'UTR NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 118 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) CCTCTTCTTCGACCTCCTTTT 0.557000 84 166 0 0 0.003610 0 0 BCORL1 63035 broad.mit.edu 37 X 129147484 129147484 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:129147484C>T ENST00000540052.1 + 3 780 c.736C>T c.(736-738)Cca>Tca p.P246S BCORL1_ENST00000303743.5_Missense_Mutation_p.P246S|BCORL1_ENST00000218147.7_Missense_Mutation_p.P246S|BCORL1_ENST00000359304.2_Missense_Mutation_p.P246S NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 246 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CACTTCGGTTCCAGCTCCTTC 0.617000 42 13 0 0 0.003610 0 0 ZNF611 81856 broad.mit.edu 37 19 53209551 53209551 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:53209551G>A ENST00000543227.1 - 6 1031 c.757C>T c.(757-759)Cat>Tat p.H253Y ZNF611_ENST00000595798.1_Missense_Mutation_p.H184Y|ZNF611_ENST00000319783.1_Missense_Mutation_p.H253Y|ZNF611_ENST00000540744.1_Missense_Mutation_p.H253Y|ZNF611_ENST00000453741.2_Missense_Mutation_p.H184Y|ZNF611_ENST00000602162.1_Missense_Mutation_p.H184Y NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TCTCCTAAATGGGGTATCTGG 0.378000 14 94 0 0 0.004990 0 0 SLC22A25 387601 broad.mit.edu 37 11 62997106 62997106 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:62997106G>A ENST00000306494.6 - 1 18 c.19C>T c.(19-21)Cta>Tta p.L7L SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron NM_199352.3 NP_955384.3 Q6T423 S22AP_HUMAN solute carrier family 22, member 25 7 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 ACTTGATCTAGGAGGTCCTGA 0.423000 19 22 0 0 0.007413 0 0 CACNA1S 779 broad.mit.edu 37 1 201010664 201010664 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:201010664C>T ENST00000362061.3 - 41 5328 c.5102G>A c.(5101-5103)gGa>gAa p.G1701E RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.G1682E NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1701 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AAGGGCTCGTCCTCTGGTAGC 0.562000 10 14 0 0 0.001368 0 0 GLI2 2736 broad.mit.edu 37 2 121747777 121747777 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:121747777C>T ENST00000452319.1 + 14 4347 c.4287C>T c.(4285-4287)ccC>ccT p.P1429P GLI2_ENST00000361492.4_Silent_p.P1429P|GLI2_ENST00000314490.11_Intron P10070 GLI2_HUMAN GLI family zinc finger 2 1429 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CGGTGCCTCCCCAGCCGCCTC 0.652000 13 24 0 0 0.003163 0 0 URM1 81605 broad.mit.edu 37 9 131151621 131151621 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:131151621C>T ENST00000452446.1 + 4 332 c.270C>T c.(268-270)gcC>gcT p.A90A URM1_ENST00000483206.1_3'UTR|URM1_ENST00000372853.4_Intron|URM1_ENST00000372850.1_3'UTR NM_001135947.2 NP_001129419.1 Q9BTM9 URM1_HUMAN ubiquitin related modifier 1 0 tRNA thio-modification|tRNA wobble uridine modification protein binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1) 5 CTCCCCCAGCCCCTGCCCTTG 0.607000 13 34 0 0 0.002450 0 0 NEBL 10529 broad.mit.edu 37 10 21074700 21074700 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:21074700C>T ENST00000377122.4 - 28 3417 c.3021G>A c.(3019-3021)gcG>gcA p.A1007A NEBL_ENST00000417816.2_Silent_p.A263A|NEBL_ENST00000377159.4_Silent_p.A229A NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 1007 SH3. regulation of actin filament length actin binding|structural constituent of muscle p.A263A(1)|p.A1007A(1) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CAATGTAATTCGCTGGGAGCA 0.413000 15 11 0 0 0.004990 0 0 PLXNA4 91584 broad.mit.edu 37 7 131883317 131883317 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:131883317C>T ENST00000359827.3 - 13 3627 c.2665G>A c.(2665-2667)Gac>Aac p.D889N PLXNA4_ENST00000321063.4_Missense_Mutation_p.D889N Q9HCM2 PLXA4_HUMAN plexin A4 889 IPT/TIG 1. 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 GAGGCGATGTCGCGAAATTCC 0.562000 27 35 0 0 0.001512 0 0 PSMB8 5696 broad.mit.edu 37 6 32810461 32810461 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:32810461G>A ENST00000374881.2 - 3 672 c.383C>T c.(382-384)gCc>gTc p.A128V PSMB8_ENST00000374882.3_Missense_Mutation_p.A132V|PSMB8_ENST00000395339.3_Missense_Mutation_p.A108V NM_004159.4 NP_004150.1 P28062 PSB8_HUMAN proteasome (prosome, macropain) subunit, beta type, 8 132 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|type I interferon-mediated signaling pathway|viral reproduction cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 11 GCATTCCTTGGCCAGCAGGCG 0.517000 10 6 0 0 0.001368 0 0 ATM 472 broad.mit.edu 37 11 108139249 108139249 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:108139249C>T ENST00000278616.4 + 18 3136 c.2751C>T c.(2749-2751)tcC>tcT p.S917S ATM_ENST00000452508.2_Silent_p.S917S NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 917 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ATACTGTGTCCTTTAGGGCAG 0.398000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 44 19 0 0 0.003610 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 4 93 0 0 0.000602 0 0 KIF21B 23046 broad.mit.edu 37 1 200978053 200978053 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:200978053C>T ENST00000332129.2 - 3 607 c.291G>A c.(289-291)atG>atA p.M97I KIF21B_ENST00000461742.2_Missense_Mutation_p.M97I|KIF21B_ENST00000422435.2_Missense_Mutation_p.M97I|KIF21B_ENST00000360529.5_Missense_Mutation_p.M97I 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 97 Kinesin-motor. 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 AGCCAGTGCCCATGGTGTACG 0.632000 28 48 0 0 0.006320 0 0 CASC5 57082 broad.mit.edu 37 15 40901050 40901050 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:40901050C>T ENST00000346991.5 + 5 531 c.141C>T c.(139-141)tcC>tcT p.S47S CASC5_ENST00000399668.2_Silent_p.S47S|CASC5_ENST00000527044.1_Silent_p.S47S Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 47 Interaction with BUB1 and BUB1B. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) CTTAGGAATCCAATGCTTTGA 0.313000 5 19 0 0 0.000602 0 0 ZADH2 284273 broad.mit.edu 37 18 72914262 72914262 + Nonsense_Mutation SNP A A T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:72914262A>T ENST00000322342.3 - 2 532 c.243T>A c.(241-243)taT>taA p.Y81* ZADH2_ENST00000537114.2_5'UTR NM_175907.4 NP_787103.1 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain containing 2 81 peroxisome oxidoreductase activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(8)|skin(1) 15 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) GGCCTGCTGAATAGTTGATGT 0.443000 14 13 0 0 0.001855 0 0 BRINP3 339479 broad.mit.edu 37 1 190067482 190067482 + Missense_Mutation SNP C C T rs149389696 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:190067482C>T ENST00000367462.3 - 8 2198 c.1967G>A c.(1966-1968)cGg>cAg p.R656Q FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R554Q NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 656 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GCCCAGGTTCCGGGAAGGGTC 0.448000 30 55 0 0 0.001786 0 0 GPC5 2262 broad.mit.edu 37 13 92101071 92101071 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:92101071G>A ENST00000377067.3 + 2 592 c.220G>A c.(220-222)Gag>Aag p.E74K NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 74 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CAGGAAGATGGAGGAGAGATA 0.418000 24 37 0 0 0.002780 0 0 NR4A3 8013 broad.mit.edu 37 9 102590451 102590451 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:102590451G>A ENST00000330847.1 + 2 204 c.160G>A c.(160-162)Ggc>Agc p.G54S NR4A3_ENST00000395097.2_Missense_Mutation_p.G43S|NR4A3_ENST00000338488.4_Missense_Mutation_p.G43S Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 43 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) CATGGACCTTGGCAGCACTGA 0.577000 T EWSR1 extraskeletal myxoid chondrosarcoma 19 29 0 0 0.006122 0 0 JKAMP 51528 broad.mit.edu 37 14 59951795 59951795 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:59951795G>A ENST00000554271.1 + 1 533 c.7G>A c.(7-9)Gga>Aga p.G3R RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000425728.2_Intron|JKAMP_ENST00000261247.9_Intron|JKAMP_ENST00000556985.1_Intron|JKAMP_ENST00000557560.1_3'UTR|JKAMP_ENST00000356057.5_Missense_Mutation_p.G3R Q9P055 JKAMP_HUMAN JNK1/MAPK8-associated membrane protein 0 ER-associated protein catabolic process|response to unfolded protein endoplasmic reticulum membrane|integral to membrane ubiquitin protein ligase binding breast(1)|endometrium(1)|kidney(1)|lung(3) 6 GGAAATGAAAGGAGAAATTCA 0.413000 34 52 0 0 0.004878 0 0 CHD7 55636 broad.mit.edu 37 8 61735300 61735300 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:61735300C>T ENST00000423902.2 + 12 3675 c.3196C>T c.(3196-3198)Ccc>Tcc p.P1066S CHD7_ENST00000525508.1_Missense_Mutation_p.P1066S|CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1066 Helicase ATP-binding. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CTTCAAAGATCCCCAGGTAAA 0.403000 62 98 0 0 0.003610 0 0 SCAF1 58506 broad.mit.edu 37 19 50156133 50156133 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:50156133G>A ENST00000360565.3 + 7 2611 c.2487G>A c.(2485-2487)cgG>cgA p.R829R NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 829 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GTTCTTCCCGGAAGGTGAAGC 0.677000 8 13 0 0 0.006214 0 0 ICT1 3396 broad.mit.edu 37 17 73015831 73015831 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:73015831C>T ENST00000301585.5 + 3 273 c.260C>T c.(259-261)cCt>cTt p.P87L NM_001545.1 NP_001536.1 Q14197 ICT1_HUMAN immature colon carcinoma transcript 1 87 mitochondrial translational termination mitochondrial large ribosomal subunit aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1) 6 all_lung(278;0.226) AGTAGTGGTCCTGGGGGGCAG 0.438000 19 16 0 0 0.002299 0 0 CLN6 54982 broad.mit.edu 37 15 68504096 68504096 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:68504096G>A ENST00000249806.5 - 4 560 c.403C>T c.(403-405)Cac>Tac p.H135Y CLN6_ENST00000564752.1_Missense_Mutation_p.H135Y|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000565471.1_Intron|CLN6_ENST00000418702.2_Intron|CLN6_ENST00000566347.1_Intron|CLN6_ENST00000538696.1_Missense_Mutation_p.H167Y NM_017882.2 NP_060352.1 Q9NWW5 CLN6_HUMAN ceroid-lipofuscinosis, neuronal 6, late infantile, variant 135 cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane protein homodimerization activity large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 AGCAGGCGGTGGTTGACAGAG 0.607000 30 61 0 0 0.002096 0 0 DNAJA4 55466 broad.mit.edu 37 15 78567844 78567844 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:78567844G>A ENST00000394855.3 + 6 966 c.738G>A c.(736-738)atG>atA p.M246I DNAJA4_ENST00000343789.3_Missense_Mutation_p.M217I|DNAJA4_ENST00000446172.2_Missense_Mutation_p.M190I|DNAJA4_ENST00000394852.3_Missense_Mutation_p.M217I NM_018602.3 NP_061072.3 Q8WW22 DNJA4_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 4 217 protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 8 TCATAGGTATGAAAGATGGGC 0.413000 16 20 0 0 0.004990 0 0 SORCS3 22986 broad.mit.edu 37 10 106971008 106971008 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:106971008G>A ENST00000369701.3 + 17 2602 c.2375_splice c.e17+1 p.G792_splice SORCS3_ENST00000369699.4_Splice_Site_p.G78_splice NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 792 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) AACAGCACTGGGTAAGTAAAA 0.463000 5 7 0 0 0.000602 0 0 OR4N2 390429 broad.mit.edu 37 14 20295941 20295941 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:20295941G>A ENST00000568211.1 + 1 334 c.334G>A c.(334-336)Gga>Aga p.G112R OR4N2_ENST00000315947.1_Missense_Mutation_p.G112R Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGGAGGGGAGGGATTACTCCT 0.512000 40 61 0 0 0.006999 0 0 ADAM22 53616 broad.mit.edu 37 7 87759715 87759715 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:87759715C>T ENST00000398204.4 + 10 1089 c.766C>T c.(766-768)Cgg>Tgg p.R256W ADAM22_ENST00000265727.7_Missense_Mutation_p.R256W|ADAM22_ENST00000398209.3_Missense_Mutation_p.R256W|ADAM22_ENST00000315984.7_Missense_Mutation_p.R256W|ADAM22_ENST00000398201.4_Missense_Mutation_p.R256W|ADAM22_ENST00000439864.1_Missense_Mutation_p.R256W NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 256 Peptidase M12B. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TAAAAAACATCGGCTTTCCGT 0.368000 20 31 0 0 0.001882 0 0 SNAP25 6616 broad.mit.edu 37 20 10273538 10273538 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:10273538G>A ENST00000304886.2 + 5 380 c.172G>A c.(172-174)Gat>Aat p.D58N SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000254976.2_Intron NM_003081.3 NP_003072.2 P60880 SNP25_HUMAN synaptosomal-associated protein, 25kDa 58 Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1. energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 18 Botulinum Toxin Type A(DB00083) AGAACAACTCGATCGTGTCGA 0.398000 13 35 0 0 0.001368 0 0 SHROOM3 57619 broad.mit.edu 37 4 77661507 77661507 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:77661507G>A ENST00000296043.6 + 5 3134 c.2181G>A c.(2179-2181)ggG>ggA p.G727G NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 727 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GGCCCGAGGGGAGGACCGGTG 0.672000 12 38 0 0 0.002450 0 0 MAPK7 5598 broad.mit.edu 37 17 19285703 19285703 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:19285703C>T ENST00000308406.5 + 5 2473 c.2087C>T c.(2086-2088)gCc>gTc p.A696V MAPK7_ENST00000395604.3_Missense_Mutation_p.A696V|MAPK7_ENST00000299612.7_Missense_Mutation_p.A557V|MAPK7_ENST00000395602.4_Missense_Mutation_p.A696V|MAPK7_ENST00000571657.1_Intron NM_139033.2 NP_620602.2 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 696 May not be required for kinase activity; required to stimulate MEF2C activity (By similarity). cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 30 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) CCCCCAGACGCCGGGGGAGCC 0.637000 20 15 0 0 0.002780 0 0 TLE6 79816 broad.mit.edu 37 19 2987015 2987015 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:2987015C>T ENST00000246112.4 + 7 521 c.320C>T c.(319-321)cCc>cTc p.P107L TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_5'UTR NM_001143986.1 NP_001137458.1 Q9H808 TLE6_HUMAN transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) 0 regulation of transcription, DNA-dependent nucleus breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1) 10 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) CCTGGGACGCCCCAGCAGGTG 0.632000 9 7 0 0 0.004482 0 0 CRB1 23418 broad.mit.edu 37 1 197297627 197297627 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:197297627C>T ENST00000367400.3 + 2 281 c.146C>T c.(145-147)tCa>tTa p.S49L CRB1_ENST00000538660.1_Missense_Mutation_p.S49L|CRB1_ENST00000535699.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.S49L NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 49 EGF-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding 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 AAAGATTTTTCAAAAGACAAT 0.363000 15 19 0 0 0.002450 0 0 ZNF585B 92285 broad.mit.edu 37 19 37676996 37676996 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:37676996G>A ENST00000532828.2 - 5 1694 c.1443C>T c.(1441-1443)ctC>ctT p.L481L ZNF585B_ENST00000312908.5_Silent_p.L69L|ZNF585B_ENST00000531805.1_Silent_p.L426L|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 481 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GATGTGTAATGAGATTTGACC 0.403000 24 53 0 0 0.002445 0 0 ZNF415 55786 broad.mit.edu 37 19 53619642 53619642 + Nonsense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:53619642C>T ENST00000594011.1 - 4 318 c.60G>A c.(58-60)tgG>tgA p.W20* ZNF415_ENST00000455735.2_5'UTR|ZNF415_ENST00000601215.1_Intron|ZNF415_ENST00000421033.1_5'UTR|ZNF415_ENST00000597748.1_Nonsense_Mutation_p.W20*|ZNF415_ENST00000597503.1_Nonsense_Mutation_p.W20*|ZNF415_ENST00000600574.1_Nonsense_Mutation_p.W20*|ZNF415_ENST00000243643.4_Nonsense_Mutation_p.W20*|ZNF415_ENST00000448501.1_5'UTR|ZNF415_ENST00000599261.1_Nonsense_Mutation_p.W20*|ZNF415_ENST00000440291.1_5'UTR|ZNF415_ENST00000500065.4_Nonsense_Mutation_p.W20*|ZNF415_ENST00000596683.1_5'UTR|ZNF415_ENST00000595813.1_Nonsense_Mutation_p.W20*|ZNF415_ENST00000601493.1_Intron|ZNF415_ENST00000595193.1_Nonsense_Mutation_p.W20* Q09FC8 ZN415_HUMAN zinc finger protein 415 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) TCAGGCATTTCCACTCATCTT 0.438000 12 36 0 0 0.000978 0 0 SCML4 256380 broad.mit.edu 37 6 108042121 108042121 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:108042121G>A ENST00000369022.2 - 5 794 c.585C>T c.(583-585)tcC>tcT p.S195S SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369021.3_Silent_p.S224S|SCML4_ENST00000369025.2_Silent_p.S11S|SCML4_ENST00000369020.3_Silent_p.S253S Q8N228 SCML4_HUMAN sex comb on midleg-like 4 (Drosophila) 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1) 25 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) GGTTAAAGGTGGAGGCGGAGG 0.587000 19 10 0 0 0.001882 0 0 CGNL1 84952 broad.mit.edu 37 15 57838369 57838369 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:57838369G>A ENST00000281282.5 + 18 3783 c.3705G>A c.(3703-3705)gaG>gaA p.E1235E NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 1235 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) TGCAGAGGGAGCTGGAGGAGC 0.557000 6 4 0 0 0.001168 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73022807 73022807 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:73022807C>T ENST00000263674.3 + 1 3474 c.3124C>T c.(3124-3126)Ccc>Tcc p.P1042S NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1042 Pro-rich. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 TGAGGCCAAGCCCCCTGAGGC 0.642000 5 19 0 0 0.001168 0 0 SIRT1 23411 broad.mit.edu 37 10 69651312 69651312 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:69651312G>A ENST00000212015.6 + 4 995 c.942_splice c.e4+1 p.K314_splice SIRT1_ENST00000432464.1_Splice_Site_p.K19_splice|SIRT1_ENST00000406900.1_5'UTR NM_012238.4 NP_036370.2 Q96EB6 SIRT1_HUMAN sirtuin 1 314 Deacetylase sirtuin-type. apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 14 AGTTTGCAAAGGTACTATGAA 0.378000 50 97 0 0 0.003610 0 0 CAMK2G 818 broad.mit.edu 37 10 75607101 75607101 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:75607101G>A ENST00000423381.1 - 10 824 c.701C>T c.(700-702)cCa>cTa p.P234L CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000322680.3_Missense_Mutation_p.P234L|CAMK2G_ENST00000372765.1_Missense_Mutation_p.P234L|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000305762.7_Missense_Mutation_p.P234L|CAMK2G_ENST00000394762.2_Missense_Mutation_p.P234L|CAMK2G_ENST00000351293.3_Missense_Mutation_p.P234L|CAMK2G_ENST00000322635.3_Missense_Mutation_p.P234L NM_001204492.1 NP_001191421.1 Q13555 KCC2G_HUMAN calcium/calmodulin-dependent protein kinase II gamma 234 Protein kinase. insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 15 Prostate(51;0.0112) TTCTGGTGATGGGAACTAAGG 0.488000 14 33 0 0 0.002450 0 0 DBX1 120237 broad.mit.edu 37 11 20177857 20177857 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:20177857G>A ENST00000524983.2 - 4 1223 c.935C>T c.(934-936)tCg>tTg p.S312L DBX1_ENST00000227256.3_Missense_Mutation_p.S351L A6NMT0 DBX1_HUMAN developing brain homeobox 1 312 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 GTGCGCGGGCGAGGGGGGCAG 0.701000 13 11 0 0 0.001368 0 0 C12orf42 374470 broad.mit.edu 37 12 103700110 103700110 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:103700110C>T ENST00000548048.1 - 8 568 c.72G>A c.(70-72)agG>agA p.R24R C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000378113.2_Silent_p.R91R|C12orf42_ENST00000548883.1_Silent_p.R91R Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 91 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 AATTTTGAGTCCTTTCTGGAA 0.373000 7 7 0 0 0.003080 0 0 NLRP7 199713 broad.mit.edu 37 19 55441917 55441917 + Nonsense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:55441917C>T ENST00000446217.1 - 11 3246 c.2844G>A c.(2842-2844)tgG>tgA p.W948* NLRP7_ENST00000448121.2_Nonsense_Mutation_p.W892*|NLRP7_ENST00000592784.1_Nonsense_Mutation_p.W920*|NLRP7_ENST00000340844.2_Nonsense_Mutation_p.W920*|NLRP7_ENST00000328092.5_Nonsense_Mutation_p.W892*|NLRP7_ENST00000590030.1_Nonsense_Mutation_p.W920*|NLRP7_ENST00000588756.1_Nonsense_Mutation_p.W920* Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 920 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GACAGAGAATCCACAATCCAC 0.438000 27 56 0 0 0.007291 0 0 MYO7A 4647 broad.mit.edu 37 11 76910664 76910664 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:76910664G>A ENST00000409709.3 + 35 4925 c.4653G>A c.(4651-4653)gcG>gcA p.A1551A MYO7A_ENST00000409619.2_Intron|MYO7A_ENST00000458637.2_Intron NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1551 FERM 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TGACCCCGGCGGGGCCCTGTT 0.637000 4 5 0 0 0.000248 0 0 SPTA1 6708 broad.mit.edu 37 1 158612669 158612669 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:158612669C>T ENST00000368148.3 - 32 4720 c.4540G>A c.(4540-4542)Gaa>Aaa p.E1514K SPTA1_ENST00000368147.3_Missense_Mutation_p.E1514K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1514 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTGATCCATTCTTCCAGCTCC 0.453000 38 75 0 0 0.002522 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96581911 96581911 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:96581911G>A ENST00000456556.1 - 37 2440 c.2356C>T c.(2356-2358)Cgg>Tgg p.R786W ANKRD36C_ENST00000420871.2_5'UTR|ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000295246.5_5'UTR ankyrin repeat domain 36C breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GGTTTTTTCCGAGAAGACACT 0.343000 10 7 0 0 0.001368 0 0 PLRG1 5356 broad.mit.edu 37 4 155467365 155467365 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:155467365C>T ENST00000499023.2 - 5 440 c.313_splice c.e5-1 p.G105_splice PLRG1_ENST00000393905.2_Splice_Site_p.G105_splice|PLRG1_ENST00000302078.5_Splice_Site_p.G96_splice NM_001201564.1|NM_002669.3 NP_001188493.1|NP_002660.1 O43660 PLRG1_HUMAN pleiotropic regulator 1 105 catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1) 22 all_hematologic(180;0.215) Renal(120;0.0854) CAAAGCAACCCCTATTAAAAT 0.348000 7 15 0 0 0.003080 0 0 ADD2 119 broad.mit.edu 37 2 70890603 70890603 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:70890603G>A ENST00000264436.3 - 16 2579 c.2135C>T c.(2134-2136)cCc>cTc p.P712L ADD2_ENST00000407644.2_Missense_Mutation_p.P712L NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 712 Interaction with calmodulin (Potential). actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 CAGGAAGGAGGGGGTTCGGAA 0.537000 39 89 0 0 0.003610 0 0 MROH9 80133 broad.mit.edu 37 1 170941014 170941014 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:170941014G>A ENST00000367759.4 + 8 760 c.606G>A c.(604-606)cgG>cgA p.R202R MROH9_ENST00000367758.3_Silent_p.R202R NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 ACATTGCACGGTGTCAGAACG 0.453000 45 94 0 0 0.003610 0 0 ATF6 22926 broad.mit.edu 37 1 161821621 161821621 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:161821621C>T ENST00000367942.3 + 11 1496 c.1429C>T c.(1429-1431)Ctc>Ttc p.L477F ATF6_ENST00000476437.1_3'UTR NM_007348.3 NP_031374.2 P18850 ATF6A_HUMAN activating transcription factor 6 477 positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) AACAGAGTCTCTCAGGTGAGT 0.413000 21 57 0 0 0.002299 0 0 MTMR11 10903 broad.mit.edu 37 1 149905813 149905813 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:149905813G>A ENST00000439741.2 - 8 956 c.706C>T c.(706-708)Cct>Tct p.P236S MTMR11_ENST00000406732.3_Missense_Mutation_p.P208S|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Missense_Mutation_p.P164S NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 236 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) ATTCGGTTAGGGACCCAGAAG 0.478000 32 59 0 0 0.003755 0 0 OR5M9 390162 broad.mit.edu 37 11 56230376 56230376 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:56230376C>T ENST00000279791.1 - 1 501 c.502G>A c.(502-504)Gga>Aga p.G168R NM_001004743.1 NP_001004743.1 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, member 9 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) TCAAAGTTTCCACAGAAGTAT 0.428000 10 22 0 0 0.000673 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50190433 50190433 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:50190433G>A ENST00000335999.6 - 8 1411 c.1210C>T c.(1210-1212)Ccc>Tcc p.P404S NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 400 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 CTAAGGAAGGGGAGGGGCCCC 0.627000 4 19 0 0 0.000602 0 0 RYR2 6262 broad.mit.edu 37 1 237806719 237806719 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:237806719C>T ENST00000366574.2 + 48 7631 c.7314C>T c.(7312-7314)atC>atT p.I2438I RYR2_ENST00000542537.1_Silent_p.I2422I|RYR2_ENST00000360064.6_Silent_p.I2436I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2438 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 p.I2436M(1) 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) TTATCAGCATCGCTTTTCAGA 0.438000 28 46 0 0 0.006320 0 0 NPTXR 23467 broad.mit.edu 37 22 39222537 39222537 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:39222537G>A ENST00000333039.2 - 3 1189 c.1066C>T c.(1066-1068)Cat>Tat p.H356Y NM_014293.3 NP_055108.2 O95502 NPTXR_HUMAN neuronal pentraxin receptor 356 Pentaxin. integral to membrane metal ion binding central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) ATGGGCTCATGGCCCGCCTCT 0.662000 29 37 0 0 0.002445 0 0 ZNF142 7701 broad.mit.edu 37 2 219508735 219508735 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:219508735G>A ENST00000411696.2 - 7 3283 c.2504C>T c.(2503-2505)gCc>gTc p.A835V ZNF142_ENST00000449707.1_Missense_Mutation_p.A835V P52746 ZN142_HUMAN zinc finger protein 142 835 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GCAGCGGAAGGCTCGCCCCTC 0.607000 29 77 0 0 0.006320 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378576 31378576 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:31378576C>T ENST00000297142.3 - 2 629 c.307G>A c.(307-309)Gag>Aag p.E103K NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 103 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 CTGTTCCTCTCGCGCGCGTTC 0.473000 42 108 0 0 0.003610 0 0 AVPR1B 553 broad.mit.edu 37 1 206224448 206224448 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:206224448C>T ENST00000367126.4 + 1 473 c.8C>T c.(7-9)tCt>tTt p.S3F NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 3 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) CTCATGGATTCTGGGCCTCTG 0.612000 73 146 0 0 0.003610 0 0 AMPH 273 broad.mit.edu 37 7 38431555 38431555 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:38431555C>T ENST00000356264.2 - 19 1887 c.1672G>A c.(1672-1674)Gaa>Aaa p.E558K AMPH_ENST00000428293.2_Missense_Mutation_p.E516K|AMPH_ENST00000325590.5_Missense_Mutation_p.E516K NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 558 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane p.E558K(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 ATAGTTATTTCGTTTTCTCCT 0.597000 11 26 0 0 0.000978 0 0 MEPCE 56257 broad.mit.edu 37 7 100030696 100030696 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:100030696C>T ENST00000310512.2 + 2 2214 c.1826C>T c.(1825-1827)cCt>cTt p.P609L MEPCE_ENST00000414441.1_Missense_Mutation_p.P140L NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 609 Bin3-type SAM. methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CACCTACGCCCTGGGGGCATC 0.582000 13 36 0 0 0.002450 0 0 CTD-2192J16.20 0 broad.mit.edu 37 19 12691411 12691411 + Missense_Mutation SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:12691411T>C ENST00000593682.1 - 1 378 c.379A>G c.(379-381)Aaa>Gaa p.K127E ZNF490_ENST00000311437.6_Missense_Mutation_p.K493R ATGAATTCTTTTGTGTACTTT 0.423000 23 49 0 0 0.001882 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966312 41966312 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:41966312C>T ENST00000298919.7 + 10 1339 c.951C>T c.(949-951)ccC>ccT p.P317P PDZRN4_ENST00000539469.2_Silent_p.P319P|PDZRN4_ENST00000402685.2_Silent_p.P577P Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 577 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) CCGAGGACCCCAATAGCACAT 0.498000 8 9 0 0 0.004482 0 0 C19orf24 55009 broad.mit.edu 37 19 1278891 1278891 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:1278891G>A ENST00000469144.1 + 3 391 c.82G>A c.(82-84)Ggc>Agc p.G28S C19orf24_ENST00000409293.4_3'UTR Q9BVV8 CS024_HUMAN chromosome 19 open reading frame 24 64 cytoplasm|extracellular region part|integral to membrane Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014) 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) CTGGCCCCGGGGCTGGTCTCA 0.687000 19 12 0 0 0.001216 0 0 LPAR4 2846 broad.mit.edu 37 X 78010800 78010800 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:78010800G>A ENST00000435339.2 + 2 839 c.434G>A c.(433-435)cGa>cAa p.R145Q LPAR4_ENST00000373301.2_Missense_Mutation_p.R145Q NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 145 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled p.R145Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TATCCTTTTCGATCTCGTACT 0.463000 24 23 0 0 0.003954 0 0 TPTE2 93492 broad.mit.edu 37 13 19997240 19997240 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:19997240G>A ENST00000400230.2 - 20 1575 c.1531C>T c.(1531-1533)Cca>Tca p.P511S TPTE2_ENST00000255310.6_Missense_Mutation_p.P434S|TPTE2_ENST00000457266.2_Missense_Mutation_p.P400S|TPTE2_ENST00000400103.2_Missense_Mutation_p.P400S|TPTE2_ENST00000382977.4_Missense_Mutation_p.P511S|TPTE2_ENST00000390680.2_Missense_Mutation_p.P434S|TPTE2_ENST00000382975.4_Missense_Mutation_p.P471S|TPTE2_ENST00000382978.1_Missense_Mutation_p.P471S Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 511 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) GCAAATTCTGGTGGATAAATT 0.363000 18 18 0 0 0.001882 0 0 LRRC7 57554 broad.mit.edu 37 1 70452014 70452014 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:70452014C>T ENST00000310961.5 + 11 1195 c.777C>T c.(775-777)gcC>gcT p.A259A LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Silent_p.A254A Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 254 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 GATGTGAAGCCCTTGAGGACC 0.338000 11 12 0 0 0.000978 0 0 RPTOR 57521 broad.mit.edu 37 17 78919516 78919516 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:78919516C>T ENST00000306801.3 + 26 3437 c.3075C>T c.(3073-3075)gtC>gtT p.V1025V RPTOR_ENST00000544334.2_Silent_p.V867V|RPTOR_ENST00000575542.1_3'UTR NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 1025 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 ACCCCGGCGTCCCCTCTGTGG 0.562000 45 13 0 0 0.003610 0 0 NFATC2 4773 broad.mit.edu 37 20 50048876 50048876 + Missense_Mutation SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:50048876T>C ENST00000371564.3 - 9 2669 c.2450A>G c.(2449-2451)aAc>aGc p.N817S NFATC2_ENST00000414705.1_Missense_Mutation_p.N797S|NFATC2_ENST00000396009.3_Missense_Mutation_p.N817S NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 817 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CAGCTGCTGGTTGGTGGGTGA 0.657000 28 43 0 0 0.002445 0 0 ZMYM6 9204 broad.mit.edu 37 1 35477575 35477575 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:35477575G>A ENST00000357182.4 - 8 1205 c.978C>T c.(976-978)acC>acT p.T326T ZMYM6_ENST00000487874.1_Silent_p.T326T|ZMYM6_ENST00000373340.2_Silent_p.T326T|ZMYM6_ENST00000493328.1_5'UTR NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 326 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) GGATTGCTGAGGTTTTACAAC 0.373000 7 30 0 0 0.004482 0 0 IGLV3-16 28799 broad.mit.edu 37 22 23090285 23090285 + RNA SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:23090285G>A ENST00000390311.2 + 0 262 AGGCCCTCAGGGATCCCTGAG 0.498000 9 29 0 0 0.006214 0 0 OPRK1 4986 broad.mit.edu 37 8 54142187 54142187 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:54142187C>T ENST00000265572.3 - 4 1110 c.813G>A c.(811-813)agG>agA p.R271R OPRK1_ENST00000524278.1_Silent_p.R182R|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.R271R NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 271 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) GTCTGGTGATCCTACGCAGGT 0.572000 13 38 0 0 0.002450 0 0 STK11 6794 broad.mit.edu 37 19 1220485 1220485 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:1220485C>T ENST00000326873.7 + 4 1751 c.578C>T c.(577-579)tCc>tTc p.S193F NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 193 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.Y156fs*87(4)|p.?(3) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CTCAAAATCTCCGACCTGGGC 0.677000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 6 4 0 0 0.001984 0 0 RPAP1 26015 broad.mit.edu 37 15 41817327 41817327 + Missense_Mutation SNP C C G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:41817327C>G ENST00000304330.4 - 15 2053 c.1937G>C c.(1936-1938)cGg>cCg p.R646P RPAP1_ENST00000561603.1_Missense_Mutation_p.R646P NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 646 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) CAGGCGGCTCCGGAGATCAAA 0.592000 7 12 0 0 0.004482 0 0 TENM2 57451 broad.mit.edu 37 5 167489216 167489216 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:167489216G>A ENST00000519204.1 + 6 1216 c.1098G>A c.(1096-1098)aaG>aaA p.K366K TENM2_ENST00000545108.1_Silent_p.K487K|TENM2_ENST00000520394.1_Silent_p.K255K|TENM2_ENST00000403607.2_Silent_p.K320K|TENM2_ENST00000518659.1_Silent_p.K487K teneurin transmembrane protein 2 CCCTCGGGAAGGACGCTCTCT 0.448000 15 25 0 0 0.007413 0 0 ZBTB21 49854 broad.mit.edu 37 21 43411387 43411387 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr21:43411387G>A ENST00000310826.5 - 3 3001 c.2818C>T c.(2818-2820)Cac>Tac p.H940Y ZBTB21_ENST00000398505.3_Missense_Mutation_p.H739Y|ZBTB21_ENST00000398511.3_Missense_Mutation_p.H940Y|ZBTB21_ENST00000398499.1_Missense_Mutation_p.H940Y NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 TTGCACACGTGACAAATAAAT 0.498000 10 32 0 0 0.000673 0 0 ATP13A5 344905 broad.mit.edu 37 3 193032821 193032821 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:193032821C>T ENST00000342358.4 - 18 2215 c.2098G>A c.(2098-2100)Gaa>Aaa p.E700K NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 700 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.E700K(1) NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) AGTTTGGTTTCTTTTTTCAAG 0.383000 20 63 0 0 0.001216 0 0 PTCHD1 139411 broad.mit.edu 37 X 23398131 23398131 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:23398131G>A ENST00000379361.4 + 2 1635 c.775G>A c.(775-777)Gaa>Aaa p.E259K NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 259 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 CTCACTGAGGGAAGATTTCCA 0.517000 40 9 0 0 0.006230 0 0 NAV3 89795 broad.mit.edu 37 12 78360052 78360052 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:78360052G>A ENST00000397909.2 + 4 631 c.458G>A c.(457-459)gGg>gAg p.G153E NAV3_ENST00000536525.2_Missense_Mutation_p.G153E|NAV3_ENST00000228327.6_Missense_Mutation_p.G153E|NAV3_ENST00000266692.7_Missense_Mutation_p.G153E Q8IVL0 NAV3_HUMAN neuron navigator 3 153 CH. 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 GCAGCCAGAGGGGTAAATGTT 0.313000 HNSCC(70;0.22) 20 43 0 0 0.002780 0 0 ZNF148 7707 broad.mit.edu 37 3 124952458 124952458 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:124952458G>A ENST00000360647.4 - 9 1597 c.1112C>T c.(1111-1113)tCg>tTg p.S371L ZNF148_ENST00000485866.1_Missense_Mutation_p.S371L|ZNF148_ENST00000492394.1_Missense_Mutation_p.S371L|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.S371L NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 371 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 CCCAACTGACGAATGTGGCAT 0.363000 26 33 0 0 0.004656 0 0 PDGFRA 5156 broad.mit.edu 37 4 55139777 55139777 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:55139777G>A ENST00000257290.5 + 10 1769 c.1438G>A c.(1438-1440)Gac>Aac p.D480N FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 480 Ig-like C2-type 5. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CCACTCCCGAGACAGGAGTAC 0.498000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 23 34 0 0 0.004656 0 0 YBX2 51087 broad.mit.edu 37 17 7193843 7193843 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:7193843G>A ENST00000007699.5 - 5 534 c.471C>T c.(469-471)gcC>gcT p.A157A YBX2_ENST00000570627.1_5'UTR NM_015982.3 NP_057066.2 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 157 CSD.|Required for cytoplasmic retention (By similarity). regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3) 12 TTACATTAGTGGCTTCTGCGC 0.582000 10 10 0 0 0.001368 0 0 PLA2R1 22925 broad.mit.edu 37 2 160869867 160869867 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:160869867C>T ENST00000283243.7 - 10 1777 c.1571G>A c.(1570-1572)gGa>gAa p.G524E PLA2R1_ENST00000392771.1_Missense_Mutation_p.G524E NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 524 C-type lectin 3. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 GTAACAGAATCCACCATGTCT 0.368000 10 17 0 0 0.000978 0 0 DGKK 139189 broad.mit.edu 37 X 50127723 50127723 + RNA SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:50127723C>T ENST00000376025.2 - 0 2506 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding p.R612L(1) central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) CTTACGGCGTCGTGGGCTTGT 0.398000 44 14 0 0 0.003214 0 0 MMAA 166785 broad.mit.edu 37 4 146560724 146560724 + Nonsense_Mutation SNP C C T rs104893851 byFrequency TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:146560724C>T ENST00000281317.5 + 2 1643 c.433C>T c.(433-435)Cga>Tga p.R145* MMAA_ENST00000541599.1_5'UTR NM_172250.2 NP_758454.1 Q8IVH4 MMAA_HUMAN methylmalonic aciduria (cobalamin deficiency) cblA type 145 R -> Q (in MMAA). mitochondrion GTP binding|nucleoside-triphosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1) 17 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACTAGCATTTCGAGTAGGTCA 0.323000 5 14 0 0 0.001984 0 0 KIAA0355 9710 broad.mit.edu 37 19 34832632 34832632 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:34832632C>T ENST00000299505.6 + 10 2666 c.1793C>T c.(1792-1794)cCc>cTc p.P598L NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 598 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) GGTAATTTCCCCAGGACTACA 0.443000 11 33 0 0 0.000978 0 0 KIAA1199 57214 broad.mit.edu 37 15 81171206 81171206 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:81171206G>A ENST00000394685.3 + 4 658 c.239G>A c.(238-240)gGa>gAa p.G80E KIAA1199_ENST00000220244.3_Missense_Mutation_p.G80E|KIAA1199_ENST00000356249.5_Missense_Mutation_p.G80E Q8WUJ3 K1199_HUMAN KIAA1199 80 G8. breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 ATCTCAGAGGGAGGTAAGCCA 0.542000 21 51 0 0 0.002299 0 0 SLC26A11 284129 broad.mit.edu 37 17 78195515 78195515 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:78195515C>T ENST00000361193.3 + 3 436 c.156C>T c.(154-156)ttC>ttT p.F52F SLC26A11_ENST00000411502.3_Silent_p.F52F|SLC26A11_ENST00000546047.2_Silent_p.F52F|SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000572725.1_Silent_p.F52F NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 52 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) AGATGGATTTCGTCGCCGGCC 0.682000 20 23 0 0 0.001882 0 0 ENTPD5 957 broad.mit.edu 37 14 74433632 74433632 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:74433632C>T ENST00000334696.6 - 16 1605 c.1286G>A c.(1285-1287)tGa>tAa p.*429* ENTPD5_ENST00000557325.1_Intron NM_001249.2 NP_001240.1 O75356 ENTP5_HUMAN ectonucleoside triphosphate diphosphohydrolase 5 0 'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade endoplasmic reticulum lumen guanosine-diphosphatase activity|uridine-diphosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(234;0.00394) TACGTGGCCTCAATGGGAGAT 0.507000 19 25 0 0 0.002780 0 0 SLC9A4 389015 broad.mit.edu 37 2 103120161 103120161 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:103120161C>T ENST00000295269.4 + 3 1432 c.975C>T c.(973-975)atC>atT p.I325I NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 325 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 TCTCCGGCATCCTGGCGTGAG 0.433000 19 44 0 0 0.001882 0 0 ARID5B 84159 broad.mit.edu 37 10 63852268 63852268 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:63852268C>T ENST00000279873.7 + 10 3456 c.3046C>T c.(3046-3048)Ctg>Ttg p.L1016L ARID5B_ENST00000309334.5_Silent_p.L773L NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 1016 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) CAAGCGCAGCCTGGAGGATTT 0.577000 15 64 0 0 0.004007 0 0 STK36 27148 broad.mit.edu 37 2 219538446 219538446 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:219538446C>T ENST00000295709.3 + 3 462 c.183C>T c.(181-183)ccC>ccT p.P61P STK36_ENST00000440309.1_Silent_p.P61P|STK36_ENST00000392105.3_Silent_p.P61P|STK36_ENST00000392106.2_Silent_p.P61P NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 61 Protein kinase. cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) TGCGGCATCCCAACATTGTGC 0.498000 15 19 0 0 0.004007 0 0 AGBL5 60509 broad.mit.edu 37 2 27278858 27278858 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:27278858C>T ENST00000360131.4 + 7 1376 c.1217C>T c.(1216-1218)cCa>cTa p.P406L AGBL5_ENST00000323064.8_Missense_Mutation_p.P406L NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 406 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGATTATGCCACAACAGTCT 0.522000 26 85 0 0 0.006320 0 0 TUBAL3 79861 broad.mit.edu 37 10 5436106 5436106 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:5436106C>T ENST00000380419.3 - 4 752 c.715G>A c.(715-717)Gtt>Att p.V239I TUBAL3_ENST00000479328.1_Missense_Mutation_p.V199I NM_024803.2 NP_079079.1 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 239 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 ACCACCTGAACCACCAATCTA 0.488000 24 33 0 0 0.002299 0 0 SENP6 26054 broad.mit.edu 37 6 76350409 76350409 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:76350409C>T ENST00000447266.2 + 6 946 c.468C>T c.(466-468)gaC>gaT p.D156D SENP6_ENST00000370010.2_Intron|SENP6_ENST00000370014.3_Intron|SENP6_ENST00000327284.8_Intron NM_015571.2 NP_056386.2 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 156 proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(105;0.189) GCAGTCTGGACCGAAAAGAAA 0.279000 6 9 0 0 0.004482 0 0 ITIH1 3697 broad.mit.edu 37 3 52814383 52814383 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:52814383C>T ENST00000273283.2 + 6 696 c.672C>T c.(670-672)tcC>tcT p.S224S ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000540715.1_Silent_p.S82S|ITIH1_ENST00000542827.1_Silent_p.S224S NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 224 hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) TCAAGAAGTCCTTCTCAGGAA 0.552000 10 13 0 0 0.006214 0 0 MTOR 2475 broad.mit.edu 37 1 11300598 11300598 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:11300598G>A ENST00000361445.4 - 11 1624 c.1548C>T c.(1546-1548)gcC>gcT p.A516A NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 516 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 CTGCAGTGAGGGCAGGGCTGA 0.517000 17 43 0 0 0.001216 0 0 THBS3 7059 broad.mit.edu 37 1 155166889 155166889 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:155166889C>T ENST00000368378.3 - 21 2635 c.2615G>A c.(2614-2616)cGg>cAg p.R872Q RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.R401Q|THBS3_ENST00000487250.1_Intron|THBS3_ENST00000541576.1_Missense_Mutation_p.R269Q|THBS3_ENST00000457183.2_Missense_Mutation_p.R752Q NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 872 TSP C-terminal. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GGTCTTGTCCCGCCAGCCCAC 0.622000 24 31 0 0 0.003330 0 0 IL17RD 54756 broad.mit.edu 37 3 57131690 57131690 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:57131690C>T ENST00000296318.7 - 12 2129 c.2041G>A c.(2041-2043)Gga>Aga p.G681R IL17RD_ENST00000463523.1_Missense_Mutation_p.G537R|IL17RD_ENST00000427856.2_Missense_Mutation_p.G657R|IL17RD_ENST00000320057.5_Missense_Mutation_p.G537R NM_017563.3 NP_060033.3 Q8NFM7 I17RD_HUMAN interleukin 17 receptor D 681 Golgi membrane|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) GTCGAGAGTCCTTCCATCAGT 0.622000 5 2 0 0 0.001984 0 0 LRRC66 339977 broad.mit.edu 37 4 52860601 52860601 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:52860601G>A ENST00000343457.3 - 4 2593 c.2587C>T c.(2587-2589)Ccc>Tcc p.P863S NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 863 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 GGATCTGAGGGAACTTCAGCA 0.378000 20 22 0 0 0.002299 0 0 JAK1 3716 broad.mit.edu 37 1 65301108 65301108 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:65301108G>A ENST00000342505.4 - 24 3588 c.3340C>T c.(3340-3342)Ctg>Ttg p.L1114L NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 1114 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) GGGCACGGCAGGCGTTTTCCT 0.423000 Mis ALL 19 67 0 0 0.001882 0 0 DNASE1L3 1776 broad.mit.edu 37 3 58183700 58183700 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:58183700G>A ENST00000483681.1 - 8 1133 c.552C>T c.(550-552)ttC>ttT p.F184F DNASE1L3_ENST00000318316.3_Silent_p.F184F|DNASE1L3_ENST00000486455.1_Silent_p.F154F|DNASE1L3_ENST00000394549.2_Silent_p.F184F Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 184 apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) CCATGAAAATGAAATTCTAAA 0.517000 13 18 0 0 0.001855 0 0 TCEAL6 158931 broad.mit.edu 37 X 101396323 101396323 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:101396323C>T ENST00000372773.1 - 3 342 c.e3-1 TCEAL6_ENST00000372774.3_5'UTR Q6IPX3 TCAL6_HUMAN transcription elongation factor A (SII)-like 6 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 14 TCTCTTTTTCCTGTCCTGGGG 0.463000 5 3 0 0 0.000602 0 0 PIM3 415116 broad.mit.edu 37 22 50356709 50356709 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:50356709C>T ENST00000360612.4 + 6 1350 c.915C>T c.(913-915)gaC>gaT p.D305D NM_001001852.3 NP_001001852.2 Q86V86 PIM3_HUMAN pim-3 oncogene 305 cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle ATP binding|protein binding|protein serine/threonine kinase activity all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247) AGAGCTGTGACCTGCGGCTGT 0.687000 4 11 0 0 0.000602 0 0 LILRB4 11006 broad.mit.edu 37 19 55177763 55177763 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:55177763G>A ENST00000391736.1 + 10 1262 c.947G>A c.(946-948)aGg>aAg p.R316K LILRB4_ENST00000430952.2_Missense_Mutation_p.R316K|LILRB4_ENST00000270452.2_Missense_Mutation_p.R316K|LILRB4_ENST00000391734.3_Missense_Mutation_p.R316K|LILRB4_ENST00000391733.3_Missense_Mutation_p.R316K NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 316 integral to membrane|plasma membrane antigen binding|receptor activity p.R316K(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GGCCTACAGAGGAGGTAATTC 0.617000 10 29 0 0 0.000978 0 0 ARID5B 84159 broad.mit.edu 37 10 63661961 63661961 + Missense_Mutation SNP A A T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:63661961A>T ENST00000279873.7 + 2 475 c.65A>T c.(64-66)tAc>tTc p.Y22F NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 22 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) TACATTTTCTACAAGGCTTTT 0.453000 24 49 0 0 0.002299 0 0 KCNH3 23416 broad.mit.edu 37 12 49948157 49948157 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:49948157G>A ENST00000257981.6 + 11 2216 c.1956G>A c.(1954-1956)cgG>cgA p.R652R NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 652 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 TGCCCCGGCGGGAGCAGGTGG 0.637000 35 80 0 0 0.005524 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39913434 39913434 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:39913434C>T ENST00000425673.1 + 16 1978 c.1653C>T c.(1651-1653)acC>acT p.T551T PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Silent_p.T580T|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Silent_p.T521T Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 580 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) ACAGCGAAACCCTCACATTCC 0.597000 10 19 0 0 0.000673 0 0 CTNNA2 1496 broad.mit.edu 37 2 80816453 80816453 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:80816453G>A ENST00000466387.1 + 19 2756 c.2032G>A c.(2032-2034)Gag>Aag p.E678K CTNNA2_ENST00000361291.4_Missense_Mutation_p.E712K|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.E678K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E678K|CTNNA2_ENST00000496558.1_Missense_Mutation_p.E678K|AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E678K|CTNNA2_ENST00000343114.3_Missense_Mutation_p.E357K P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 678 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 ACTACCGCAGGAGGAGAAGGC 0.507000 10 8 0 0 0.000673 0 0 CD276 80381 broad.mit.edu 37 15 73996205 73996205 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:73996205C>T ENST00000318443.5 + 5 1241 c.939C>T c.(937-939)ctC>ctT p.L313L CD276_ENST00000537340.2_Silent_p.L167L|CD276_ENST00000564751.1_Intron|CD276_ENST00000561213.1_Silent_p.L313L|CD276_ENST00000318424.5_Intron NM_001024736.1 NP_001019907.1 Q5ZPR3 CD276_HUMAN CD276 molecule 313 Ig-like V-type 2. cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation external side of plasma membrane|integral to membrane receptor binding endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 13 GCACGGCCCTCTTCCCGGACC 0.632000 5 12 0 0 0.000602 0 0 OAT 4942 broad.mit.edu 37 10 126097393 126097393 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:126097393G>A ENST00000368845.5 - 3 433 c.341C>T c.(340-342)gCt>gTt p.A114V OAT_ENST00000539214.1_5'UTR NM_000274.3 NP_000265.1 P04181 OAT_HUMAN ornithine aminotransferase 114 cellular amino acid biosynthetic process|visual perception mitochondrial matrix ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding endometrium(2)|large_intestine(1)|lung(2) 5 all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116) L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114) ATTATAGAAAGCTCTAGATGT 0.368000 15 19 0 0 0.003163 0 0 CDHR4 389118 broad.mit.edu 37 3 49836220 49836220 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:49836220C>T ENST00000487256.1 - 4 556 c.534G>A c.(532-534)ggG>ggA p.G178G CDHR4_ENST00000412678.2_Intron|CDHR4_ENST00000343366.4_3'UTR A6H8M9 CDHR4_HUMAN cadherin-related family member 4 0 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3) 11 ATCCCCCCACCCCCATCCTGT 0.582000 8 7 0 0 0.004482 0 0 PIF1 80119 broad.mit.edu 37 15 65110166 65110166 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:65110166C>T ENST00000268043.4 - 11 1747 c.1653G>A c.(1651-1653)gcG>gcA p.A551A PIF1_ENST00000333425.6_Silent_p.A551A|PIF1_ENST00000559239.1_Silent_p.A551A Q9H611 PIF1_HUMAN PIF1 5'-to-3' DNA helicase 551 Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity. negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding kidney(1)|lung(1) 2 GGATGGACATCGCCCAGGCCA 0.632000 4 8 0 0 0.000602 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882158 228882158 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:228882158C>T ENST00000392056.3 - 7 3458 c.3412G>A c.(3412-3414)Gaa>Aaa p.E1138K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1138K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1138 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CCTTCATTTTCCATCTGGTTC 0.537000 9 17 0 0 0.006214 0 0 SLIT2 9353 broad.mit.edu 37 4 20611732 20611732 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:20611732C>T ENST00000504154.1 + 34 4041 c.3789C>T c.(3787-3789)atC>atT p.I1263I SLIT2_ENST00000503823.1_Silent_p.I1255I|SLIT2_ENST00000273739.5_Silent_p.I1276I|SLIT2_ENST00000503837.1_Silent_p.I1259I NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1263 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ACCCCAAAATCATCACTAACT 0.453000 11 19 0 0 0.000978 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117779500 117779500 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:117779500C>T ENST00000528626.1 - 8 1078 c.e8-1 TMPRSS13_ENST00000524993.1_Splice_Site|TMPRSS13_ENST00000526090.1_Splice_Site|TMPRSS13_ENST00000445164.2_Splice_Site|TMPRSS13_ENST00000430170.2_Splice_Site NM_001206789.1 NP_001193718.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) CTCCCGGGTCCTGCAAGAGCC 0.617000 11 5 0 0 0.003163 0 0 TTLL5 23093 broad.mit.edu 37 14 76149932 76149932 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:76149932G>A ENST00000298832.9 + 5 509 c.304G>A c.(304-306)Gga>Aga p.G102R TTLL5_ENST00000557636.1_Missense_Mutation_p.G102R|TTLL5_ENST00000286650.5_Missense_Mutation_p.G102R|TTLL5_ENST00000556977.1_Missense_Mutation_p.G102R NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 102 TTL. protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) AATGTGGACAGGATCCCACCT 0.458000 25 22 0 0 0.007291 0 0 SNHG14 104472715 broad.mit.edu 37 15 25438355 25438355 + RNA SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:25438355C>T ENST00000424208.1 + 0 1214 SNHG14_ENST00000414175.1_RNA NR_003305.1 TGCTGAGCCCCTGGTGCACTG 0.597000 6 21 0 0 0.001168 0 0 ENPEP 2028 broad.mit.edu 37 4 111397743 111397743 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:111397743C>T ENST00000265162.5 + 1 515 c.173C>T c.(172-174)tCc>tTc p.S58F NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 58 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CCAGCTCCTTCCCACCTGCCT 0.632000 33 52 0 0 0.002445 0 0 PSMB8 5696 broad.mit.edu 37 6 32810460 32810460 + Silent SNP G G T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:32810460G>T ENST00000374881.2 - 3 673 c.384C>A c.(382-384)gcC>gcA p.A128A PSMB8_ENST00000374882.3_Silent_p.A132A|PSMB8_ENST00000395339.3_Silent_p.A108A NM_004159.4 NP_004150.1 P28062 PSB8_HUMAN proteasome (prosome, macropain) subunit, beta type, 8 132 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|type I interferon-mediated signaling pathway|viral reproduction cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 11 TGCATTCCTTGGCCAGCAGGC 0.517000 10 7 0.00010058 0.000130563 0.001368 1 0 NTRK3 4916 broad.mit.edu 37 15 88524547 88524547 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:88524547C>T ENST00000317501.3 - 14 1791 c.1630G>A c.(1630-1632)Gac>Aac p.D544N NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.D544N|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000394480.1_Intron NM_001007156.2 NP_001007157.1 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 0 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) tctctattgtccttcaagttt 0.438000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 7 27 0 0 0.003080 0 0 DLGAP1 9229 broad.mit.edu 37 18 3729134 3729134 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:3729134C>T ENST00000315677.3 - 7 2187 c.e7+1 DLGAP1_ENST00000534970.1_Splice_Site|DLGAP1_ENST00000400147.2_Splice_Site|DLGAP1_ENST00000400150.3_Splice_Site|DLGAP1_ENST00000400145.2_Splice_Site|DLGAP1_ENST00000515196.2_Splice_Site|DLGAP1_ENST00000400155.1_Splice_Site|DLGAP1_ENST00000584874.1_Splice_Site|DLGAP1_ENST00000581527.1_Splice_Site|DLGAP1_ENST00000478161.1_Splice_Site|DLGAP1_ENST00000581699.1_Splice_Site|DLGAP1_ENST00000539435.1_Splice_Site|DLGAP1_ENST00000400149.3_Splice_Site NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane p.?(2) breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) CGCGCACTCACCCGTGCTGCT 0.637000 8 11 0 0 0.006214 0 0 OR4D6 219983 broad.mit.edu 37 11 59224926 59224926 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:59224926C>T ENST00000300127.2 + 1 516 c.493C>T c.(493-495)Cca>Tca p.P165S NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 TCTGATGCTTCCATTCCCCTT 0.502000 33 64 0 0 0.002836 0 0 HIVEP2 3097 broad.mit.edu 37 6 143091114 143091114 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:143091114G>A ENST00000367603.2 - 5 5504 c.4762C>T c.(4762-4764)Cca>Tca p.P1588S HIVEP2_ENST00000367604.1_Missense_Mutation_p.P1588S|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P1588S NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1588 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TCTCCTGCTGGTAATGAAGAA 0.552000 24 32 0 0 0.003954 0 0 MXRA5 25878 broad.mit.edu 37 X 3261829 3261829 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:3261829G>A ENST00000217939.6 - 2 200 c.46C>T c.(46-48)Ctg>Ttg p.L16L NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 16 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CCCCAAAGCAGGATCAGCACC 0.642000 9 4 0 0 0.000673 0 0 CCDC80 151887 broad.mit.edu 37 3 112324500 112324500 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:112324500C>T ENST00000206423.3 - 8 3570 c.2617G>A c.(2617-2619)Gga>Aga p.G873R CCDC80_ENST00000439685.2_Missense_Mutation_p.G873R NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 873 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 TTGACATTTCCGTCTTTTCCG 0.448000 11 29 0 0 0.000673 0 0 TRPM3 80036 broad.mit.edu 37 9 73150892 73150892 + Missense_Mutation SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:73150892T>C ENST00000377110.2 - 25 5344 c.5101A>G c.(5101-5103)Agc>Ggc p.S1701G TRPM3_ENST00000357533.2_Missense_Mutation_p.S1705G|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1728G|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1560G|TRPM3_ENST00000377106.1_Missense_Mutation_p.S1573G|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1560G|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396280.5_Missense_Mutation_p.S1550G|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1560G|TRPM3_ENST00000358082.3_Missense_Mutation_p.S1563G|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1573G|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1563G NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1726 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 CTTTCAAAGCTTTGGAAAGCC 0.507000 26 74 0 0 0.004656 0 0 GCSAML 148823 broad.mit.edu 37 1 247737453 247737453 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:247737453G>A ENST00000366491.2 + 7 614 c.117G>A c.(115-117)gaG>gaA p.E39E RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000536561.1_Silent_p.E39E|GCSAML_ENST00000366488.4_Silent_p.E59E|GCSAML_ENST00000527084.1_Silent_p.E27E|GCSAML_ENST00000527541.1_Silent_p.E27E|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000463359.1_Silent_p.E27E|GCSAML_ENST00000366489.1_Silent_p.E39E germinal center-associated, signaling and motility-like AGGAAAACGAGAATGGCAGTG 0.433000 38 58 0 0 0.003214 0 0 RAP1B 5908 broad.mit.edu 37 12 69047972 69047972 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:69047972C>T ENST00000250559.9 + 5 495 c.264C>T c.(262-264)tcC>tcT p.S88S RAP1B_ENST00000393436.5_Silent_p.S88S|RAP1B_ENST00000341355.5_Silent_p.S88S|RAP1B_ENST00000378985.3_Silent_p.S22S|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000543697.1_Silent_p.S88S|RAP1B_ENST00000543393.1_Silent_p.S22S|RAP1B_ENST00000542145.1_Intron|RAP1B_ENST00000541216.1_Silent_p.S88S|RAP1B_ENST00000537460.1_Silent_p.S88S|RAP1B_ENST00000540209.1_Silent_p.S69S|RAP1B_ENST00000539091.1_Silent_p.S46S|RAP1B_ENST00000450214.2_Silent_p.S46S NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5 NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1 P61224 RAP1B_HUMAN RAP1B, member of RAS oncogene family 88 blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion cell-cell junction|cytosol GDP binding|GTP binding|GTPase activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2) 12 Breast(13;1.24e-05) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GBM - Glioblastoma multiforme(7;0.000306) CAGCACAGTCCACATTTAACG 0.333000 42 125 0 0 0.002522 0 0 TTN 7273 broad.mit.edu 37 2 179571401 179571401 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179571401C>T ENST00000589042.1 - 102 29424 c.29200G>A c.(29200-29202)Ggg>Agg p.G9734R TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G8490R|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G9417R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9417 Ig-like 78. 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) CTCCACTTCCCTTTTGTCCAT 0.408000 43 81 0 0 0.002852 0 0 NOTCH3 4854 broad.mit.edu 37 19 15302455 15302455 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:15302455C>T ENST00000263388.2 - 6 891 c.816G>A c.(814-816)acG>acA p.T272T NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 272 EGF-like 6; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CCACGTCCTCCGTGCAGAACT 0.652000 14 15 0 0 0.003163 0 0 PCDH15 65217 broad.mit.edu 37 10 55582303 55582303 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:55582303C>T ENST00000361849.3 - 34 5583 c.5189G>A c.(5188-5190)aGa>aAa p.R1730K PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1688K|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1659K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1705K|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1725K|PCDH15_ENST00000320301.6_Missense_Mutation_p.R1728K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_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 1728 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) AAAAATATTTCTTTCGGTTTC 0.443000 HNSCC(58;0.16) 8 17 0 0 0.003080 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125192172 125192172 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:125192172G>A ENST00000431078.1 + 5 1005 c.641G>A c.(640-642)gGa>gAa p.G214E NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 214 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) AGCATGCAAGGAGATGGGGTC 0.512000 14 30 0 0 0.002450 0 0 MEPCE 56257 broad.mit.edu 37 7 100029261 100029261 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:100029261C>T ENST00000310512.2 + 1 2008 c.1620C>T c.(1618-1620)ccC>ccT p.P540P MEPCE_ENST00000414441.1_Silent_p.P71P NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 540 Bin3-type SAM. methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCCAAGTGCCCTTGGATGGAG 0.607000 5 20 0 0 0.000602 0 0 DRD3 1814 broad.mit.edu 37 3 113890711 113890711 + Silent SNP G G A rs143953030 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:113890711G>A ENST00000383673.2 - 2 559 c.129C>T c.(127-129)atC>atT p.I43I DRD3_ENST00000295881.7_Silent_p.I43I|DRD3_ENST00000467632.1_Silent_p.I43I|DRD3_ENST00000460779.1_Silent_p.I43I NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 43 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) TGCCGAAGACGATGGCCAGGA 0.607000 9 24 0 0 0.004482 0 0 OR4M2 390538 broad.mit.edu 37 15 22369004 22369004 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:22369004C>T ENST00000332663.2 + 1 527 c.429C>T c.(427-429)atC>atT p.I143I RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTGCTGTATCCTGGTGGCTC 0.507000 42 136 0 0 0.002222 0 0 CCIN 881 broad.mit.edu 37 9 36170445 36170445 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:36170445C>T ENST00000335119.2 + 1 1057 c.946C>T c.(946-948)Cgg>Tgg p.R316W NM_005893.2 NP_005884.2 Q13939 CALI_HUMAN calicin 316 cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) CATGCCCTATCGGGCAGCAGC 0.547000 18 10 0 0 0.004990 0 0 PTPN23 25930 broad.mit.edu 37 3 47447872 47447872 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:47447872C>T ENST00000265562.4 + 7 681 c.604C>T c.(604-606)Ctg>Ttg p.L202L PTPN23_ENST00000431726.1_Silent_p.L76L NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 202 BRO1. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GAAGAGCTTTCTGGTGGCCCG 0.627000 14 22 0 0 0.004990 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78316504 78316504 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:78316504C>T ENST00000409931.3 - 6 1535 c.1464G>A c.(1462-1464)agG>agA p.R488R TBC1D2B_ENST00000300584.3_Silent_p.R488R Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 488 intracellular protein binding|Rab GTPase activator activity breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 TTACTTTCAGCCTGTCCAGTT 0.642000 9 17 0 0 0.006214 0 0 LRWD1 222229 broad.mit.edu 37 7 102106642 102106642 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:102106642C>T ENST00000292616.5 + 3 509 c.357C>T c.(355-357)ctC>ctT p.L119L NM_152892.1 NP_690852.1 Q9UFC0 LRWD1_HUMAN leucine-rich repeats and WD repeat domain containing 1 119 chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin chromatin binding|methyl-CpG binding|methylated histone residue binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2) 20 TGCCCACGCTCCGTAAGGTCA 0.542000 24 33 0 0 0.003954 0 0 CARD11 84433 broad.mit.edu 37 7 2952951 2952951 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:2952951C>T ENST00000396946.4 - 22 3392 c.2989G>A c.(2989-2991)Ggt>Agt p.G997S NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 997 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TCCATGGCACCTCCCGAGTTG 0.667000 Mis DLBCL 23 59 0 0 0.002780 0 0 SCAP 22937 broad.mit.edu 37 3 47460943 47460943 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:47460943C>T ENST00000265565.5 - 13 2227 c.1815G>A c.(1813-1815)gaG>gaA p.E605E SCAP_ENST00000545718.1_Silent_p.E213E|SCAP_ENST00000441517.2_Silent_p.E350E NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 605 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) CATGGACAACCTCTGCTGGAC 0.602000 19 42 0 0 0.001882 0 0 STAT1 6772 broad.mit.edu 37 2 191851617 191851617 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:191851617G>A ENST00000361099.3 - 14 1571 c.1184C>T c.(1183-1185)tCc>tTc p.S395F STAT1_ENST00000392323.2_Missense_Mutation_p.S397F|STAT1_ENST00000409465.1_Missense_Mutation_p.S395F|STAT1_ENST00000392322.3_Missense_Mutation_p.S395F|STAT1_ENST00000540176.1_3'UTR NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 395 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) GCCATTGGTGGACTCCTCCAT 0.423000 60 100 0 0 0.003610 0 0 ZC3H4 23211 broad.mit.edu 37 19 47570288 47570288 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:47570288G>A ENST00000253048.5 - 15 3274 c.3237C>T c.(3235-3237)gaC>gaT p.D1079D ZC3H4_ENST00000594019.1_5'UTR NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 1079 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GCAGCCGAGGGTCGGTGGGGG 0.701000 9 15 0 0 0.000673 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48602351 48602351 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:48602351C>T ENST00000323776.5 + 13 2040 c.1878C>T c.(1876-1878)acC>acT p.T626T MYCBPAP_ENST00000436259.2_Silent_p.T589T NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 589 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) CCTATCTCACCGAGGAAGACT 0.647000 20 62 0 0 0.001523 0 0 ERMN 57471 broad.mit.edu 37 2 158178034 158178034 + Nonsense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:158178034G>A ENST00000410096.1 - 3 895 c.604C>T c.(604-606)Cga>Tga p.R202* ERMN_ENST00000397283.2_Nonsense_Mutation_p.R215*|ERMN_ENST00000420719.2_Nonsense_Mutation_p.R182*|ERMN_ENST00000535935.1_Nonsense_Mutation_p.R96* NM_020711.1 NP_065762.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein 202 cytoplasm|cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 TCTATCACTCGAACTtcatct 0.383000 29 52 0 0 0.006320 0 0 GKAP1 80318 broad.mit.edu 37 9 86383826 86383826 + Silent SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:86383826A>G ENST00000376371.2 - 8 1045 c.645T>C c.(643-645)gaT>gaC p.D215D GKAP1_ENST00000376365.3_Intron NM_025211.3 NP_079487.2 Q5VSY0 GKAP1_HUMAN G kinase anchoring protein 1 215 signal transduction Golgi apparatus endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 14 TATGAACATCATCTTCCAGTC 0.333000 14 26 0 0 0.001855 0 0 TTN 7273 broad.mit.edu 37 2 179604720 179604720 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179604720G>A ENST00000589042.1 - 48 13464 c.13240C>T c.(13240-13242)Ctt>Ttt p.L4414F TTN_ENST00000342175.6_Missense_Mutation_p.L4243F|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.L4176F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L4051F|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L4097F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4097 Ig-like 24. 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) TCAGAGAAAAGACCTGGCTGC 0.478000 29 44 0 0 0.007291 0 0 SH3BP5 9467 broad.mit.edu 37 3 15297671 15297671 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:15297671C>T ENST00000383791.3 - 9 1510 c.1290G>A c.(1288-1290)cgG>cgA p.R430R SH3BP5_ENST00000253688.5_Silent_p.R273R|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5_ENST00000408919.3_Silent_p.R273R|SH3BP5_ENST00000426925.1_Silent_p.R273R NM_004844.4 NP_004835.2 O60239 3BP5_HUMAN SH3-domain binding protein 5 (BTK-associated) 430 intracellular signal transduction mitochondrion protein kinase inhibitor activity|SH3 domain binding NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 12 GCTGCTTCATCCGGTTCTCCA 0.552000 20 20 0 0 0.001523 0 0 CABP7 164633 broad.mit.edu 37 22 30124621 30124621 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:30124621G>A ENST00000216144.3 + 3 597 c.256G>A c.(256-258)Gat>Aat p.D86N NM_182527.2 NP_872333.1 Q86V35 CABP7_HUMAN calcium binding protein 7 86 EF-hand 2. Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding lung(1)|skin(3) 4 OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233) TCCACCAGGTGATGGTCAAGT 0.572000 16 14 0 0 0.004990 0 0 ENTPD5 957 broad.mit.edu 37 14 74433631 74433631 + Nonstop_Mutation SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:74433631T>C ENST00000334696.6 - 16 1606 c.1287A>G c.(1285-1287)tgA>tgG p.*429W ENTPD5_ENST00000557325.1_Intron NM_001249.2 NP_001240.1 O75356 ENTP5_HUMAN ectonucleoside triphosphate diphosphohydrolase 5 0 'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade endoplasmic reticulum lumen guanosine-diphosphatase activity|uridine-diphosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(234;0.00394) GTACGTGGCCTCAATGGGAGA 0.507000 19 24 0 0 0.002780 0 0 CDK4 1019 broad.mit.edu 37 12 58143035 58143035 + Missense_Mutation SNP G G T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:58143035G>T ENST00000257904.6 - 7 1114 c.749C>A c.(748-750)cCc>cAc p.P250H CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000312990.6_3'UTR|TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000549606.1_5'UTR|CDK4_ENST00000540325.1_Missense_Mutation_p.P130H NM_000075.3 NP_000066.1 P11802 CDK4_HUMAN cyclin-dependent kinase 4 250 Protein kinase. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 21 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) CCCTCTGGGGGGAAAGGCTCC 0.637000 Mis melanoma Hereditary Melanoma 16 33 1.5739e-10 2.05561e-10 0.004007 1 0 CCDC81 60494 broad.mit.edu 37 11 86131096 86131096 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:86131096G>A ENST00000278487.3 + 13 2101 c.e13+1 CCDC81_ENST00000445632.2_Splice_Site|CCDC81_ENST00000528728.1_Splice_Site|CCDC81_ENST00000354755.1_Splice_Site Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) CTTTTGAACGGTAATGCCTGA 0.502000 19 40 0 0 0.001216 0 0 DKC1 1736 broad.mit.edu 37 X 153995642 153995642 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:153995642C>T ENST00000369550.5 + 7 835 c.625C>T c.(625-627)Cct>Tct p.P209S NM_001142463.1|NM_001363.3 NP_001135935.1|NP_001354.1 O60832 DKC1_HUMAN dyskeratosis congenita 1, dyskerin 209 cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase Cajal body|nucleolus|telomerase holoenzyme complex protein binding|pseudouridine synthase activity|RNA binding|telomerase activity breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1) 15 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGAATACGATCCTGAAAGAAG 0.443000 Congenital Dyskeratosis 36 13 0 0 0.006999 0 0 MOV10L1 54456 broad.mit.edu 37 22 50537966 50537966 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:50537966C>T ENST00000262794.5 + 3 460 c.377C>T c.(376-378)tCc>tTc p.S126F MOV10L1_ENST00000475190.1_3'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.S126F|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Missense_Mutation_p.S106F|MOV10L1_ENST00000545383.1_Missense_Mutation_p.S126F NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 126 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) TGTGTGACTTCCCTGGTGGAG 0.532000 17 28 0 0 0.007413 0 0 CPAMD8 27151 broad.mit.edu 37 19 17025574 17025574 + Missense_Mutation SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:17025574A>G ENST00000443236.1 - 28 3851 c.3820T>C c.(3820-3822)Ttc>Ctc p.F1274L NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1227 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 GGGTCCACGAAGATAAAGCTG 0.617000 6 33 0 0 0.003080 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43822444 43822444 + Nonsense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:43822444C>T ENST00000389420.3 - 25 3647 c.3648G>A c.(3646-3648)tgG>tgA p.W1216* ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.W1216*|ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.W334* NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1216 TSP type-1 8. 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) TTACGGGTGACCAATCCCCTG 0.333000 7 10 0 0 0.001984 0 0 MBD3L1 85509 broad.mit.edu 37 19 8953375 8953375 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:8953375G>A ENST00000595891.1 + 3 252 c.21G>A c.(19-21)agG>agA p.R7R MBD3L1_ENST00000305625.2_Silent_p.R7R Q8WWY6 MB3L1_HUMAN methyl-CpG binding domain protein 3-like 1 7 Transcription repressor. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 12 GTTCACAGAGGAAGCAACGTG 0.423000 6 16 0 0 0.004482 0 0 DMBT1 1755 broad.mit.edu 37 10 124377706 124377706 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:124377706G>A ENST00000338354.3 + 38 4784 c.4678G>A c.(4678-4680)Gga>Aga p.G1560R DMBT1_ENST00000368955.3_Missense_Mutation_p.G1550R|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1550R|DMBT1_ENST00000368956.2_Missense_Mutation_p.G932R|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1560R|DMBT1_ENST00000359586.6_Missense_Mutation_p.G411R|DMBT1_ENST00000330163.4_Missense_Mutation_p.G932R Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1560 SRCR 12. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GTCAGCCCCAGGAAATGCCCA 0.612000 65 118 0 0 0.003610 0 0 COL11A1 1301 broad.mit.edu 37 1 103412449 103412449 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:103412449C>T ENST00000358392.2 - 42 3585 c.3268G>A c.(3268-3270)Gga>Aga p.G1090R COL11A1_ENST00000370096.3_Missense_Mutation_p.G1078R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1039R|COL11A1_ENST00000512756.1_Missense_Mutation_p.G962R NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1078 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) CCCTGAGGTCCCGGGCGCCCT 0.478000 5 21 0 0 0.000602 0 0 OR5T2 219464 broad.mit.edu 37 11 55999754 55999754 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:55999754G>A ENST00000313264.4 - 1 983 c.908C>T c.(907-909)tCc>tTc p.S303F NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) AGCATAGCTGGAACTTGGTCT 0.428000 23 52 0 0 0.002780 0 0 CPS1 1373 broad.mit.edu 37 2 211452803 211452803 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:211452803G>A ENST00000233072.5 + 7 839 c.643G>A c.(643-645)Gga>Aga p.G215R CPS1_ENST00000430249.2_Missense_Mutation_p.G221R NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 215 Anthranilate phosphoribosyltransferase homolog. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GTACGGCAAAGGAAACCCCAC 0.413000 22 67 0 0 0.005443 0 0 CDH16 1014 broad.mit.edu 37 16 66945820 66945820 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:66945820G>A ENST00000299752.4 - 13 1965 c.1772C>T c.(1771-1773)cCc>cTc p.P591L CDH16_ENST00000394055.3_Missense_Mutation_p.P591L|CDH16_ENST00000570262.1_Missense_Mutation_p.P511L|CDH16_ENST00000565796.1_Missense_Mutation_p.P591L|CDH16_ENST00000568632.1_Missense_Mutation_p.P494L NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 591 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TCGGCTGATGGGGTCGGAGGG 0.637000 14 27 0 0 0.002450 0 0 CLCN1 1180 broad.mit.edu 37 7 143029561 143029561 + Missense_Mutation SNP T T A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:143029561T>A ENST00000343257.2 + 11 1303 c.1216T>A c.(1216-1218)Ttc>Atc p.F406I NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 406 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CTCATTCACCTTCCCACCAGG 0.483000 24 45 0 0 0.007291 0 0 OR5D13 390142 broad.mit.edu 37 11 55541213 55541213 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:55541213C>T ENST00000361760.1 + 1 300 c.300C>T c.(298-300)atC>atT p.I100I NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) CTGGTTGCATCATGCAATTTT 0.408000 24 64 0 0 0.003330 0 0 COL6A6 131873 broad.mit.edu 37 3 130284201 130284201 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:130284201G>A ENST00000358511.6 + 3 1056 c.1025G>A c.(1024-1026)cGa>cAa p.R342Q COL6A6_ENST00000453409.2_Missense_Mutation_p.R342Q NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 342 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GTGACCCACCGAGATTCAGAA 0.562000 29 78 0 0 0.002836 0 0 CYLC1 1538 broad.mit.edu 37 X 83128012 83128012 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:83128012C>T ENST00000329312.4 + 4 333 c.296C>T c.(295-297)cCa>cTa p.P99L NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 99 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 GAACAGACTCCATTCAGACAT 0.383000 5 6 0 0 0.001168 0 0 MPDZ 8777 broad.mit.edu 37 9 13119590 13119590 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:13119590C>T ENST00000319217.7 - 39 5537 c.5290G>A c.(5290-5292)Gga>Aga p.G1764R MPDZ_ENST00000381022.2_Missense_Mutation_p.G1764R|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1764R|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1731R|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1731R|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1778R|MPDZ_ENST00000538841.1_Missense_Mutation_p.G623R|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1764R NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1764 PDZ 11. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) ATCAGTCTTCCATCGGCATCT 0.418000 31 26 0 0 0.002445 0 0 ARGFX 503582 broad.mit.edu 37 3 121304943 121304943 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:121304943C>T ENST00000334384.3 + 4 454 c.444C>T c.(442-444)atC>atT p.I148I NM_001012659.1 NP_001012677.1 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 148 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) GAAACCAGATCCTTCCATCCA 0.502000 13 27 0 0 0.001855 0 0 GYS2 2998 broad.mit.edu 37 12 21728963 21728963 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:21728963C>T ENST00000261195.2 - 3 586 c.332G>A c.(331-333)gGa>gAa p.G111E NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 111 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 ATAAGGACTTCCTTCTATCAG 0.433000 16 38 0 0 0.003163 0 0 CYLC2 1539 broad.mit.edu 37 9 105767357 105767357 + Silent SNP G G A rs147375715 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:105767357G>A ENST00000374798.3 + 5 514 c.444G>A c.(442-444)gaG>gaA p.E148E CYLC2_ENST00000487798.1_Silent_p.E148E NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 148 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) aggatatagagaaaggaaaag 0.358000 6 7 0 0 0.001168 0 0 IL20 50604 broad.mit.edu 37 1 207039849 207039849 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:207039849C>T ENST00000367098.1 + 4 609 c.246C>T c.(244-246)ctC>ctT p.L82L IL20_ENST00000367096.3_Silent_p.L82L|IL20_ENST00000391930.2_Silent_p.L82L Q9NYY1 IL20_HUMAN interleukin 20 82 positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response extracellular space cytokine activity|interleukin-20 receptor binding p.L82L(1) endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1) 9 Breast(84;0.201) OV - Ovarian serous cystadenocarcinoma(81;0.00459) GATGCTGCCTCCTGCGCCATT 0.512000 128 250 0 0 0.003610 0 0 GABRA2 2555 broad.mit.edu 37 4 46307625 46307625 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:46307625C>T ENST00000510861.1 - 7 836 c.663G>A c.(661-663)ctG>ctA p.L221L GABRA2_ENST00000381620.4_Silent_p.L221L|GABRA2_ENST00000356504.1_Silent_p.L221L|GABRA2_ENST00000507069.1_Silent_p.L221L|GABRA2_ENST00000514090.1_Silent_p.L221L|GABRA2_ENST00000515082.1_Silent_p.L221L|GABRA2_ENST00000540012.1_Silent_p.L166L P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 221 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTGATTGGCCCAGCAGGTCAT 0.368000 19 40 0 0 0.001216 0 0 OR10H3 26532 broad.mit.edu 37 19 15852473 15852473 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:15852473C>T ENST00000305892.1 + 1 271 c.271C>T c.(271-273)Cgt>Tgt p.R91C NM_013938.1 NP_039226.1 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, member 3 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CTTCACCCATCGTTCCATCAC 0.498000 67 240 0 0 0.003610 0 0 GPER1 2852 broad.mit.edu 37 7 1131498 1131498 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:1131498G>A ENST00000397092.1 + 3 1018 c.134G>A c.(133-135)gGg>gAg p.G45E C7orf50_ENST00000397098.3_Intron|GPER_ENST00000401670.1_Missense_Mutation_p.G45E|GPER_ENST00000397088.3_Missense_Mutation_p.G45E|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000488073.1_Intron|GPER_ENST00000297469.3_Missense_Mutation_p.G45E|C7orf50_ENST00000357429.6_Intron NM_001039966.1 NP_001035055.1 Q99527 GPER_HUMAN 45 Missing (in Ref. 7; AAB02736). endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 13 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16) CTGGCCAATGGGACAGGTGAG 0.647000 8 15 0 0 0.004482 0 0 MARK4 57787 broad.mit.edu 37 19 45774924 45774924 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:45774924C>T ENST00000300843.4 + 8 1041 c.744C>T c.(742-744)acC>acT p.T248T MARK4_ENST00000262891.4_Silent_p.T248T NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 248 Protein kinase. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) TCCTGTACACCCTCGTCAGCG 0.662000 13 34 0 0 0.002450 0 0 SEMA3E 9723 broad.mit.edu 37 7 83119493 83119493 + Silent SNP G G A rs146189665 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:83119493G>A ENST00000307792.3 - 2 680 c.213C>T c.(211-213)ttC>ttT p.F71F SEMA3E_ENST00000427262.1_Silent_p.F11F NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 71 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TGCCTCCCACGAAGAGCCTCT 0.413000 13 24 0 0 0.001855 0 0 CRB1 23418 broad.mit.edu 37 1 197396999 197396999 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:197396999C>T ENST00000367397.1 + 3 1545 c.687C>T c.(685-687)ttC>ttT p.F229F CRB1_ENST00000367400.3_Silent_p.F848F|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Silent_p.F329F|CRB1_ENST00000535699.1_Silent_p.F779F|CRB1_ENST00000367399.2_Silent_p.F736F P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 848 EGF-like 6; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding 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 GTGGATTCTTCAAAGGCTGTA 0.383000 11 23 0 0 0.001855 0 0 HDDC2 51020 broad.mit.edu 37 6 125614016 125614016 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:125614016G>A ENST00000398153.1 - 4 552 c.349C>T c.(349-351)Ctc>Ttc p.L117F HDDC2_ENST00000368377.4_Missense_Mutation_p.L83F NM_016063.2 NP_057147.2 Q7Z4H3 HDDC2_HUMAN HD domain containing 2 117 HD. metal ion binding|phosphoric diester hydrolase activity endometrium(1)|large_intestine(1)|lung(4) 6 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0186) TCCTTTCTGAGGTCCTCTGGT 0.348000 39 27 0 0 0.002522 0 0 ITIH1 3697 broad.mit.edu 37 3 52814382 52814382 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:52814382C>T ENST00000273283.2 + 6 695 c.671C>T c.(670-672)tCc>tTc p.S224F ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000540715.1_Missense_Mutation_p.S82F|ITIH1_ENST00000542827.1_Missense_Mutation_p.S224F NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 224 hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) ATCAAGAAGTCCTTCTCAGGA 0.552000 10 15 0 0 0.006214 0 0 PRSS48 345062 broad.mit.edu 37 4 152204438 152204438 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:152204438G>A ENST00000455694.2 + 4 653 c.651_splice c.e4+1 p.K217_splice PRSS48_ENST00000441586.2_Splice_Site_p.K74_splice|SH3D19_ENST00000604030.1_Intron NM_183375.2 NP_899231.2 Q7RTY5 PRS48_HUMAN protease, serine, 48 217 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 ATAGTTGCAAGGTCAGGGTTT 0.403000 11 46 0 0 0.001855 0 0 PPARG 5468 broad.mit.edu 37 3 12421418 12421418 + Nonsense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:12421418C>T ENST00000397026.2 + 4 615 c.232C>T c.(232-234)Caa>Taa p.Q78* PPARG_ENST00000397000.1_Nonsense_Mutation_p.Q72*|PPARG_ENST00000287820.6_Nonsense_Mutation_p.Q100*|PPARG_ENST00000397015.2_Nonsense_Mutation_p.Q72*|PPARG_ENST00000397010.2_Nonsense_Mutation_p.Q72*|PPARG_ENST00000397012.2_Nonsense_Mutation_p.Q72*|PPARG_ENST00000309576.6_Nonsense_Mutation_p.Q72*|PPARG_ENST00000539812.1_Nonsense_Mutation_p.Q70* P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 100 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) CCTGAAACTTCAAGAGTACCA 0.378000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 75 60 0 0 0.003610 0 0 LRP2 4036 broad.mit.edu 37 2 170011104 170011104 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:170011104G>A ENST00000263816.3 - 66 12446 c.12161C>T c.(12160-12162)cCt>cTt p.P4054L NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4054 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) TAGCAACAAAGGAGAGCTACC 0.368000 10 23 0 0 0.001855 0 0 IRS4 8471 broad.mit.edu 37 X 107979390 107979390 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:107979390G>A ENST00000372129.2 - 1 261 c.185C>T c.(184-186)tCc>tTc p.S62F NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 62 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 GTCTGACCGGGAGCCAGTGGC 0.652000 12 4 0 0 0.002450 0 0 OR9A2 135924 broad.mit.edu 37 7 142723527 142723527 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:142723527C>T ENST00000350513.2 - 1 755 c.693G>A c.(691-693)agG>agA p.R231R NM_001001658.1 NP_001001658.1 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, member 2 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) AGAAGGCTTTCCTCCGGCCAG 0.488000 21 37 0 0 0.002780 0 0 PTCH2 8643 broad.mit.edu 37 1 45293690 45293690 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:45293690G>A ENST00000447098.2 - 14 1894 c.1883C>T c.(1882-1884)tCt>tTt p.S628F PTCH2_ENST00000372192.3_Missense_Mutation_p.S628F NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 628 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CAGTGGGTCAGAAGGTGGGGG 0.622000 Basal Cell Nevus syndrome 24 26 0 0 0.002299 0 0 ADCY1 107 broad.mit.edu 37 7 45743273 45743273 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:45743273C>T ENST00000297323.7 + 16 2668 c.2646C>T c.(2644-2646)atC>atT p.I882I NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 882 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|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) ACTTCTACATCGAGCTGGACG 0.562000 18 39 0 0 0.007413 0 0 PRRC2A 7916 broad.mit.edu 37 6 31597009 31597009 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:31597009C>T ENST00000376033.2 + 13 2088 c.1854C>T c.(1852-1854)ccC>ccT p.P618P PRRC2A_ENST00000376007.4_Silent_p.P618P NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 618 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 AGGTGGAACCCAAGGGTGATG 0.582000 28 23 0 0 0.001786 0 0 ARMCX1 51309 broad.mit.edu 37 X 100808374 100808374 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:100808374C>T ENST00000372829.3 + 4 832 c.461C>T c.(460-462)cCc>cTc p.P154L NM_016608.1 NP_057692.1 Q9P291 ARMX1_HUMAN armadillo repeat containing, X-linked 1 154 integral to membrane binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1) 19 GGCTGCCACCCCACCAGGAGT 0.622000 23 9 0 0 0.003954 0 0 SLC6A3 6531 broad.mit.edu 37 5 1403047 1403047 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:1403047G>A ENST00000270349.9 - 13 1884 c.1757C>T c.(1756-1758)tCc>tTc p.S586F SLC6A3_ENST00000453492.2_Missense_Mutation_p.S586F NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 586 Interaction with TGFB1I1. cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) CTCTCGAAAGGACCCAGGCAG 0.642000 7 10 0 0 0.006214 0 0 PRDM12 59335 broad.mit.edu 37 9 133543581 133543581 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:133543581G>A ENST00000253008.2 + 3 511 c.451G>A c.(451-453)Gat>Aat p.D151N NM_021619.2 NP_067632.2 Q9H4Q4 PRD12_HUMAN PR domain containing 12 151 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) CTACTTCATCGATGCCAGCCA 0.567000 14 29 0 0 0.001855 0 0 MAPK1 5594 broad.mit.edu 37 22 22142678 22142678 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:22142678C>T ENST00000215832.6 - 6 913 c.e6-1 MAPK1_ENST00000398822.3_Splice_Site|MAPK1_ENST00000544786.1_Intron NM_002745.4 NP_002736.3 P28482 MK01_HUMAN mitogen-activated protein kinase 1 activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|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|transcription, DNA-dependent cytosol|nucleoplasm ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(54;0.105) all_lung(157;3.89e-05) READ - Rectum adenocarcinoma(21;0.0689) Arsenic trioxide(DB01169) CCAAGAATACCTATCAGATAA 0.358000 21 54 0 0 0.002780 0 0 ITGAV 3685 broad.mit.edu 37 2 187511431 187511431 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:187511431C>T ENST00000261023.3 + 13 1452 c.1178C>T c.(1177-1179)cCa>cTa p.P393L ITGAV_ENST00000433736.2_Missense_Mutation_p.P347L|ITGAV_ENST00000374907.3_Missense_Mutation_p.P357L|AC017101.10_ENST00000453665.1_RNA NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 393 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) ATTGCTGCTCCATATGGGGGT 0.443000 12 17 0 0 0.001855 0 0 L1CAM 3897 broad.mit.edu 37 X 153134070 153134070 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:153134070G>A ENST00000370060.1 - 13 1681 c.1492C>T c.(1492-1494)Ctg>Ttg p.L498L L1CAM_ENST00000361981.3_Silent_p.L493L|L1CAM_ENST00000370057.3_Silent_p.L498L|L1CAM_ENST00000543994.1_Silent_p.L500L|L1CAM_ENST00000361699.4_Silent_p.L498L|L1CAM_ENST00000538883.1_Silent_p.L500L|L1CAM_ENST00000370055.1_Silent_p.L493L NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 498 Ig-like C2-type 5. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTGGCAGCCAGGCAGAAGTAG 0.557000 20 4 0 0 0.001523 0 0 MYT1 4661 broad.mit.edu 37 20 62839626 62839626 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:62839626G>A ENST00000536311.1 + 7 1441 c.1077G>A c.(1075-1077)cgG>cgA p.R359R MYT1_ENST00000328439.1_Silent_p.R359R|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 359 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CCCACTCCCGGAAGTCAACAG 0.602000 20 30 0 0 0.001216 0 0 CECR1 51816 broad.mit.edu 37 22 17684453 17684453 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:17684453C>T ENST00000399839.1 - 4 1023 c.753_splice c.e4+1 p.P251_splice CECR1_ENST00000262607.3_Splice_Site_p.P251_splice|CECR1_ENST00000399837.2_Splice_Site_p.P251_splice|CECR1_ENST00000449907.2_Splice_Site_p.P209_splice Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 251 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) CTGGGCTCACCGGCAGCAGCC 0.532000 5 20 0 0 0.001168 0 0 SLC17A6 57084 broad.mit.edu 37 11 22396394 22396394 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:22396394C>T ENST00000263160.3 + 9 1572 c.1135C>T c.(1135-1137)Ctt>Ttt p.L379F NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 379 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 CAAGCAGATTCTTTCAACTAC 0.383000 44 44 0 0 0.002222 0 0 NF1 4763 broad.mit.edu 37 17 29559101 29559101 + Nonsense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:29559101C>T ENST00000358273.4 + 25 3591 c.3208C>T c.(3208-3210)Cag>Tag p.Q1070* NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1070* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1070 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.?(4) 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) AGATTTGGACCAGGCAAGCAT 0.373000 """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) 7 9 0 0 0.001984 0 0 CHRNB4 1143 broad.mit.edu 37 15 78923470 78923470 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:78923470G>A ENST00000261751.3 - 4 418 c.307C>T c.(307-309)Ctg>Ttg p.L103L CHRNB4_ENST00000560511.1_5'UTR|CHRNB4_ENST00000412074.2_Silent_p.L103L NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 103 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 GGGATCCTCAGGATGTTCACA 0.592000 13 38 0 0 0.006122 0 0 SPATA20 64847 broad.mit.edu 37 17 48631746 48631746 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:48631746C>T ENST00000006658.6 + 15 2212 c.2092C>T c.(2092-2094)Cgt>Tgt p.R698C SPATA20_ENST00000356488.4_Missense_Mutation_p.R682C|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.R638C NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 682 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) GCGCATGCGTCGTGTCCCGGT 0.657000 32 76 0 0 0.005524 0 0 SELE 6401 broad.mit.edu 37 1 169695926 169695926 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:169695926G>A ENST00000333360.7 - 11 1806 c.1667C>T c.(1666-1668)cCc>cTc p.P556L SELE_ENST00000367779.4_Missense_Mutation_p.P430L|SELE_ENST00000367775.1_Missense_Mutation_p.P431L|SELE_ENST00000367776.1_Missense_Mutation_p.P493L|SELE_ENST00000367782.4_Missense_Mutation_p.P493L|SELE_ENST00000367774.1_Missense_Mutation_p.P430L|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.P493L|SELE_ENST00000367780.4_Missense_Mutation_p.P431L|SELE_ENST00000367777.1_Missense_Mutation_p.P493L NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 556 actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) AGCTACCAAGGGAATGTTGGA 0.473000 8 12 0 0 0.003080 0 0 SBNO2 22904 broad.mit.edu 37 19 1127741 1127741 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:1127741G>A ENST00000361757.3 - 5 540 c.303C>T c.(301-303)ttC>ttT p.F101F SBNO2_ENST00000587024.1_Silent_p.F101F|SBNO2_ENST00000438103.2_Silent_p.F44F NM_014963.2 NP_055778.2 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 (Drosophila) 101 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) AGATGTTGGAGAAGTCCTCAA 0.617000 13 6 0 0 0.002450 0 0 OR52H1 390067 broad.mit.edu 37 11 5566730 5566730 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:5566730G>A ENST00000322653.4 - 1 49 c.24C>T c.(22-24)atC>atT p.I8I HBG2_ENST00000380259.2_Intron NM_001005289.1 NP_001005289.1 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, member 1 8 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) GGTTGAAAATGATCATGGCAG 0.433000 27 22 0 0 0.001512 0 0 TMEM202 338949 broad.mit.edu 37 15 72699092 72699092 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:72699092G>A ENST00000341689.3 + 3 541 c.487_splice c.e3+1 p.A163_splice TMEM202_ENST00000567679.1_3'UTR NM_001080462.1 NP_001073931.1 A6NGA9 TM202_HUMAN transmembrane protein 202 163 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 18 CTTCATCTCAGGTACAGACCT 0.433000 45 110 0 0 0.003610 0 0 ACTR5 79913 broad.mit.edu 37 20 37396215 37396215 + Missense_Mutation SNP G G T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:37396215G>T ENST00000243903.4 + 8 1579 c.1542G>T c.(1540-1542)atG>atT p.M514I NM_024855.3 NP_079131.3 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog (yeast) 514 DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2) 12 Myeloproliferative disorder(115;0.00878) TGTTGGAGATGAGACCCTTCC 0.418000 19 36 1.56452e-12 2.04616e-12 0.007413 1 0 BAI1 575 broad.mit.edu 37 8 143602235 143602235 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:143602235C>T ENST00000517894.1 + 20 3867 c.2973C>T c.(2971-2973)atC>atT p.I991I BAI1_ENST00000323289.5_Silent_p.I991I O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 991 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GCCTGTCCATCATCTCCTCCA 0.577000 21 32 0 0 0.002780 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870879 51870879 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:51870879G>A ENST00000371497.5 + 2 1769 c.882G>A c.(880-882)atG>atA p.M294I TSHZ2_ENST00000329613.6_Missense_Mutation_p.M291I|TSHZ2_ENST00000603338.2_Missense_Mutation_p.M291I NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 294 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) GCGTCCACATGATTAAAACAA 0.438000 15 33 0 0 0.002450 0 0 MARCH10 162333 broad.mit.edu 37 17 60779114 60779114 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:60779114C>T ENST00000583600.1 - 12 2775 c.2491G>A c.(2491-2493)Gag>Aag p.E831K MARCH10_ENST00000582358.1_5'UTR|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.E793K|MARCH10_ENST00000311269.5_Missense_Mutation_p.E793K Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 793 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 TCTCCCAACTCCGAATCTGGA 0.587000 26 70 0 0 0.001786 0 0 IGSF1 3547 broad.mit.edu 37 X 130416704 130416704 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:130416704G>A ENST00000370904.1 - 13 1843 c.933C>T c.(931-933)ttC>ttT p.F311F IGSF1_ENST00000361420.3_Silent_p.F320F|IGSF1_ENST00000370903.3_Silent_p.F320F|IGSF1_ENST00000370910.1_Silent_p.F311F Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 320 Ig-like C2-type 3. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 AGGTCTTGGGGAAAGTGTCTA 0.512000 15 6 0 0 0.006122 0 0 MBTPS1 8720 broad.mit.edu 37 16 84129405 84129405 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:84129405G>A ENST00000343411.3 - 4 922 c.427C>T c.(427-429)Ccc>Tcc p.P143S NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 143 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 GGTACTGTGGGGTCAGCTACA 0.547000 17 52 0 0 0.004990 0 0 VIMP 55829 broad.mit.edu 37 15 101814870 101814870 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:101814870C>T ENST00000398226.3 - 4 367 c.335G>A c.(334-336)aGg>aAg p.R112K VIMP_ENST00000531964.1_Missense_Mutation_p.R89K|VIMP_ENST00000526049.1_Missense_Mutation_p.R112K|VIMP_ENST00000537379.1_Missense_Mutation_p.R112K VCP-interacting membrane protein CTTCTGTCTCCTTTTTTCTTC 0.408000 8 14 0 0 0.006214 0 0 INPP5D 3635 broad.mit.edu 37 2 234104085 234104085 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:234104085G>A ENST00000359570.5 + 26 2601 c.2601G>A c.(2599-2601)aaG>aaA p.K867K INPP5D_ENST00000455936.2_Silent_p.K631K|INPP5D_ENST00000450745.1_Silent_p.K631K Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 879 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GTGGGCCAAAGACCCTGAAGA 0.587000 13 28 0 0 0.003163 0 0 NOX1 27035 broad.mit.edu 37 X 100105197 100105197 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:100105197C>T ENST00000372966.3 - 9 1281 c.1076G>A c.(1075-1077)gGg>gAg p.G359E NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.G359E|NOX1_ENST00000372960.4_Missense_Mutation_p.G322E NM_007052.4|NM_013955.2 NP_008983.2|NP_039249.1 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 359 FAD-binding FR-type. angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 TGTCCAGTCCCCTGCTGCTCG 0.473000 20 4 0 0 0.003330 0 0 ERCC6 2074 broad.mit.edu 37 10 50691556 50691556 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:50691556G>A ENST00000355832.5 - 9 1906 c.1828C>T c.(1828-1830)Cta>Tta p.L610L ERCC6_ENST00000542458.1_5'UTR NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 610 Helicase ATP-binding. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TCTCGAATTAGTTTCTCCTGA 0.353000 Direct reversal of damage;Nucleotide excision repair (NER) 16 33 0 0 0.004990 0 0 SZT2 23334 broad.mit.edu 37 1 43903269 43903269 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:43903269C>T ENST00000562955.1 + 44 6123 c.6123C>T c.(6121-6123)ctC>ctT p.L2041L SZT2_ENST00000372442.1_Silent_p.L1199L NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2098 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TTCCCAGGCTCCTAGAGACAT 0.572000 5 13 0 0 0.000602 0 0 FNBP1L 54874 broad.mit.edu 37 1 94012481 94012481 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:94012481G>A ENST00000260506.8 + 11 1334 c.1183G>A c.(1183-1185)Gag>Aag p.E395K FNBP1L_ENST00000370253.2_Missense_Mutation_p.E395K|FNBP1L_ENST00000271234.7_Missense_Mutation_p.E453K|FNBP1L_ENST00000370256.4_Missense_Mutation_p.E448K|FNBP1L_ENST00000604705.1_Missense_Mutation_p.E453K NM_001024948.2|NM_017737.4 NP_001020119.1|NP_060207.2 Q5T0N5 FBP1L_HUMAN formin binding protein 1-like 453 Interaction with CDC42. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane lipid binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1) 11 all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155) all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111) TAAATTAGCAGAGACCATGAA 0.358000 10 10 0 0 0.001368 0 0 PDHA2 5161 broad.mit.edu 37 4 96762042 96762042 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:96762042C>T ENST00000295266.4 + 1 804 c.741C>T c.(739-741)atC>atT p.I247I NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 247 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) GCAATTTTATCCCTGGGCTAA 0.453000 25 34 0 0 0.003330 0 0 MEF2D 4209 broad.mit.edu 37 1 156446904 156446904 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:156446904G>A ENST00000348159.4 - 7 1235 c.755C>T c.(754-756)cCa>cTa p.P252L MEF2D_ENST00000368240.2_Missense_Mutation_p.P252L|MEF2D_ENST00000360595.3_Missense_Mutation_p.P252L|MEF2D_ENST00000353795.3_Missense_Mutation_p.P206L|MEF2D_ENST00000340875.5_Missense_Mutation_p.P251L|MEF2D_ENST00000464356.1_Intron NM_005920.2 NP_005911.1 Q14814 MEF2D_HUMAN myocyte enhancer factor 2D 252 Poly-Pro. apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter nucleus activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 15 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGGTGGGGGTGGAGACTTGGC 0.607000 27 29 0 0 0.005443 0 0 GK2 2712 broad.mit.edu 37 4 80329289 80329289 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:80329289G>A ENST00000358842.3 - 1 83 c.66C>T c.(64-66)tcC>tcT p.S22S NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 22 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 GAAAGCGAGTGGAGTTGGTGC 0.532000 9 15 0 0 0.006214 0 0 KCNB2 9312 broad.mit.edu 37 8 73850049 73850049 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:73850049G>A ENST00000523207.1 + 3 3047 c.2459G>A c.(2458-2460)gGg>gAg p.G820E NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 820 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GAGCTCCCAGGGGCAAGGGAG 0.507000 13 66 0 0 0.001855 0 0 TTLL4 9654 broad.mit.edu 37 2 219602993 219602993 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:219602993C>T ENST00000392102.1 + 3 934 c.594C>T c.(592-594)gcC>gcT p.A198A TTLL4_ENST00000457313.1_Silent_p.A33A|TTLL4_ENST00000442769.1_Silent_p.A198A|TTLL4_ENST00000258398.4_Silent_p.A198A NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 198 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) AGAGCCTGGCCTCTGCCATCT 0.547000 22 64 0 0 0.001882 0 0 RDH8 50700 broad.mit.edu 37 19 10129494 10129494 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:10129494G>A ENST00000591589.1 + 3 599 c.410G>A c.(409-411)gGa>gAa p.G137E RDH8_ENST00000171214.1_Missense_Mutation_p.G117E Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 117 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) AACTTTTTCGGAGCTGTCCGT 0.577000 25 58 0 0 0.003330 0 0 CPNE1 8904 broad.mit.edu 37 20 34220449 34220449 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:34220449G>A ENST00000317619.3 - 5 693 c.299C>T c.(298-300)tCc>tTc p.S100F CPNE1_ENST00000352393.4_Missense_Mutation_p.S100F|CPNE1_ENST00000397446.1_Missense_Mutation_p.S100F|CPNE1_ENST00000317677.5_Missense_Mutation_p.S105F|CPNE1_ENST00000397442.1_Missense_Mutation_p.S100F|CPNE1_ENST00000397443.1_Missense_Mutation_p.S100F|CPNE1_ENST00000397445.1_Missense_Mutation_p.S100F Q99829 CPNE1_HUMAN copine I 100 lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) CTGTCCTAGGGAACACTCAGC 0.537000 26 56 0 0 0.002096 0 0 BCL2L13 23786 broad.mit.edu 37 22 18209980 18209980 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:18209980C>T ENST00000317582.5 + 7 1485 c.1138C>T c.(1138-1140)Ctt>Ttt p.L380F BCL2L13_ENST00000485631.1_3'UTR|BCL2L13_ENST00000538149.1_Missense_Mutation_p.L256F|BCL2L13_ENST00000337612.5_Missense_Mutation_p.L218F|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000355028.3_3'UTR|BCL2L13_ENST00000543133.1_Missense_Mutation_p.L218F NM_015367.2 NP_056182.2 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) 380 Glu-rich. induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2) 15 all_epithelial(15;0.123) Lung(27;0.199) GTTTGTAGAACTTGATGAAGA 0.512000 24 41 0 0 0.002299 0 0 CCDC61 729440 broad.mit.edu 37 19 46511477 46511477 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:46511477G>A ENST00000263284.2 + 6 640 c.640G>A c.(640-642)Gag>Aag p.E214K CCDC61_ENST00000595358.1_Missense_Mutation_p.E157K|CCDC61_ENST00000536603.1_Missense_Mutation_p.E157K|CCDC61_ENST00000594087.1_Missense_Mutation_p.E157K coiled-coil domain containing 61 endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164) GTCACTGAAGGAGGAACTGGG 0.617000 6 11 0 0 0.004482 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44607118 44607118 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:44607118G>A ENST00000273320.3 + 3 992 c.563G>A c.(562-564)gGg>gAg p.G188E ZKSCAN7_ENST00000431636.1_Missense_Mutation_p.G188E|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.G188E|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Missense_Mutation_p.G188E NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 TATGACCCAGGGACACACCAC 0.572000 17 27 0 0 0.004990 0 0 OR5A2 219981 broad.mit.edu 37 11 59190041 59190041 + Missense_Mutation SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:59190041T>C ENST00000302040.4 - 1 408 c.386A>G c.(385-387)aAc>aGc p.N129S NM_001001954.1 NP_001001954.1 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, member 2 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 21 AAGCAAGGGGTTGCAGATTGC 0.478000 9 18 0 0 0.006214 0 0 SLC8A2 6543 broad.mit.edu 37 19 47969428 47969428 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:47969428G>A ENST00000236877.6 - 2 628 c.233C>T c.(232-234)gCc>gTc p.A78V SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 78 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) GTAGACCATGGCCACAAAGTA 0.617000 9 17 0 0 0.004482 0 0 DLEC1 9940 broad.mit.edu 37 3 38104199 38104199 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:38104199C>T ENST00000308059.6 + 5 1022 c.1001C>T c.(1000-1002)cCt>cTt p.P334L DLEC1_ENST00000346219.3_Missense_Mutation_p.P334L|DLEC1_ENST00000452631.2_Missense_Mutation_p.P334L Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 334 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CGTTTTTTTCCTCCTAACACT 0.473000 25 29 0 0 0.003330 0 0 PDE1C 5137 broad.mit.edu 37 7 31867980 31867980 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:31867980C>T ENST00000396184.3 - 13 1415 c.1211G>A c.(1210-1212)aGa>aAa p.R404K PDE1C_ENST00000396191.1_Missense_Mutation_p.R404K|PDE1C_ENST00000396193.1_Missense_Mutation_p.R464K|PDE1C_ENST00000321453.7_Missense_Mutation_p.R404K|PDE1C_ENST00000396182.2_Missense_Mutation_p.R404K NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 404 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CTCTGCTTCTCTGTCACCCTG 0.488000 10 19 0 0 0.000673 0 0 CYP17A1 1586 broad.mit.edu 37 10 104597026 104597026 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:104597026G>A ENST00000369887.3 - 1 264 c.93C>T c.(91-93)ctC>ctT p.L31L CYP17A1_ENST00000489268.1_5'UTR NM_000102.3 NP_000093.1 P05093 CP17A_HUMAN cytochrome P450, family 17, subfamily A, polypeptide 1 31 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) GCAGGGACAGGAGGCTCTTGG 0.547000 21 58 0 0 0.002299 0 0 PCDHA6 56142 broad.mit.edu 37 5 140207808 140207808 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:140207808C>T ENST00000529310.1 + 1 246 c.132C>T c.(130-132)ttC>ttT p.F44F PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.F44F|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGGCACCTTCGTGGGCCGGA 0.662000 26 26 0 0 0.004656 0 0 OR1L3 26735 broad.mit.edu 37 9 125437507 125437507 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:125437507C>T ENST00000304820.2 + 1 193 c.99C>T c.(97-99)atC>atT p.I33I NM_001005234.1 NP_001005234.1 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, member 3 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 TCTTTCTTATCATATACCTGG 0.443000 29 68 0 0 0.007291 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144917539 144917539 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:144917539C>T ENST00000529945.1 - 8 2493 c.2054G>A c.(2053-2055)aGa>aAa p.R685K PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R522K|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R522K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R522K|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R685K|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R309K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R588K|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R659K|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R522K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R659K Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 522 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATCGCGCAGTCTCTCTAAGTC 0.468000 T PDGFRB MPD 73 500 0 0 0.003610 0 0 KCNH6 81033 broad.mit.edu 37 17 61600840 61600840 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:61600840C>T ENST00000583023.1 + 1 77 c.66C>T c.(64-66)ttC>ttT p.F22F KCNH6_ENST00000580652.1_Silent_p.F22F|KCNH6_ENST00000314672.5_Silent_p.F22F|KCNH6_ENST00000581784.1_Silent_p.F22F|KCNH6_ENST00000456941.2_Silent_p.F22F NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 22 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) TCCGCAAGTTCGAGGGCCAAA 0.632000 8 26 0 0 0.004482 0 0 CYP2J2 1573 broad.mit.edu 37 1 60377919 60377919 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:60377919C>T ENST00000371204.3 - 3 481 c.438G>A c.(436-438)agG>agA p.R146R CYP2J2_ENST00000492633.1_5'UTR NM_000775.2 NP_000766.2 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, polypeptide 2 146 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1) 26 all_cancers(7;0.000396) AACCAAAGTTCCTTAGTGCTG 0.438000 21 57 0 0 0.001523 0 0 LST3 0 broad.mit.edu 37 12 21175910 21175910 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:21175910G>A ENST00000381541.3 + 5 673 c.608G>A c.(607-609)gGa>gAa p.G203E SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G203E|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.G156E|LST3_ENST00000540229.1_Intron GCAAAAGAAGGACATTCTTCC 0.343000 5 28 0 0 0.000602 0 0 PCDHA11 56138 broad.mit.edu 37 5 140249597 140249597 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:140249597C>T ENST00000398640.2 + 1 909 c.909C>T c.(907-909)gtC>gtT p.V303V PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGTGAGGGTCAATGGAACTT 0.393000 11 8 0 0 0.000978 0 0 C2CD3 26005 broad.mit.edu 37 11 73789508 73789508 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:73789508G>A ENST00000334126.7 - 23 4481 c.4255C>T c.(4255-4257)Cat>Tat p.H1419Y C2CD3_ENST00000313663.7_Missense_Mutation_p.H1419Y Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1419 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) AGCACACAATGGATGGGCAGC 0.498000 11 25 0 0 0.000978 0 0 DCX 1641 broad.mit.edu 37 X 110574251 110574251 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:110574251C>T ENST00000338081.3 - 5 1241 c.1070G>A c.(1069-1071)gGa>gAa p.G357E DCX_ENST00000371993.2_Missense_Mutation_p.G276E|DCX_ENST00000356915.2_Missense_Mutation_p.G276E|DCX_ENST00000356220.3_Missense_Mutation_p.G276E|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.G276E NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 357 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 TGATGGGTTTCCCTTCATGAC 0.532000 34 11 0 0 0.004878 0 0 CHD5 26038 broad.mit.edu 37 1 6202251 6202251 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:6202251C>T ENST00000262450.3 - 15 2472 c.2373G>A c.(2371-2373)cgG>cgA p.R791R CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 791 Helicase ATP-binding. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) ACTCGTTCTCCCGAATCACCG 0.557000 37 67 0 0 0.005524 0 0 KCNJ3 3760 broad.mit.edu 37 2 155555424 155555424 + Missense_Mutation SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:155555424T>C ENST00000295101.2 + 1 614 c.137T>C c.(136-138)tTc>tCc p.F46S KCNJ3_ENST00000544049.1_Missense_Mutation_p.F46S NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 46 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) CGGCAGCGGTTCGTGGACAAG 0.642000 10 26 0 0 0.000978 0 0 STAB2 55576 broad.mit.edu 37 12 104142833 104142833 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:104142833G>A ENST00000388887.2 + 59 6541 c.6337G>A c.(6337-6339)Gga>Aga p.G2113R RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2113 EGF-like 16. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CTGCCAGAAGGGATACAAAGG 0.587000 18 23 0 0 0.004990 0 0 OBSCN 84033 broad.mit.edu 37 1 228432138 228432138 + Missense_Mutation SNP C C A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:228432138C>A ENST00000570156.2 + 12 3697 c.3623C>A c.(3622-3624)tCc>tAc p.S1208Y OBSCN_ENST00000284548.11_Missense_Mutation_p.S1116Y|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.S1116Y NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 152 Ig-like 12.|Poly-Ser. 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) AAGCTGAGCTCCAGCTCAAAA 0.637000 18 34 5.35267e-07 6.97193e-07 0.007413 1 0 SLC25A21 89874 broad.mit.edu 37 14 37153057 37153057 + Missense_Mutation SNP G G A rs149535012 by1000genomes TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:37153057G>A ENST00000331299.5 - 9 1329 c.814C>T c.(814-816)Ccc>Tcc p.P272S SLC25A21_ENST00000555449.1_Missense_Mutation_p.P272S NM_030631.3 NP_085134.1 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 272 lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) ATAATCTTGGGAAGCAGGCCT 0.343000 7 32 0 0 0.003080 0 0 KRT5 3852 broad.mit.edu 37 12 52914057 52914057 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:52914057G>A ENST00000252242.4 - 1 414 c.24C>T c.(22-24)tcC>tcT p.S8S NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 8 Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) CGCTCCGGAAGGACACACTTG 0.637000 7 1 0 0 0.006214 0 0 FAM76A 199870 broad.mit.edu 37 1 28071294 28071294 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:28071294C>T ENST00000373954.6 + 5 586 c.484C>T c.(484-486)Cgc>Tgc p.R162C FAM76A_ENST00000234549.7_Missense_Mutation_p.R196C|FAM76A_ENST00000419687.2_Missense_Mutation_p.R111C|FAM76A_ENST00000010299.6_Missense_Mutation_p.R196C|FAM76A_ENST00000530324.1_Missense_Mutation_p.R162C|FAM76A_ENST00000373949.1_Missense_Mutation_p.R162C NM_001143912.1|NM_152660.2 NP_001137384.1|NP_689873.1 Q8TAV0 FA76A_HUMAN family with sequence similarity 76, member A 162 endometrium(4)|kidney(2)|large_intestine(1)|lung(2) 9 Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649) GCAGTATAGTCGCCTGAGTGG 0.488000 13 30 0 0 0.003163 0 0 SPRY1 10252 broad.mit.edu 37 4 124323681 124323681 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:124323681C>T ENST00000394339.2 + 2 1275 c.935C>T c.(934-936)tCc>tTc p.S312F SPRY1_ENST00000339241.1_Missense_Mutation_p.S312F NM_001258039.1|NM_005841.2 NP_001244968.1|NP_005832.1 O43609 SPY1_HUMAN sprouty homolog 1, antagonist of FGF signaling (Drosophila) 312 epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytosol|lamellipodium|plasma membrane NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3) 11 AGCTGCCCCTCCCGGGGTCAG 0.468000 28 50 0 0 0.002096 0 0 OR8H2 390151 broad.mit.edu 37 11 55873109 55873109 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:55873109C>T ENST00000313503.1 + 1 591 c.591C>T c.(589-591)atC>atT p.I197I NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) ACACCGAAATCCTGATATTCA 0.388000 HNSCC(53;0.14) 26 70 0 0 0.003954 0 0 MAEL 84944 broad.mit.edu 37 1 166959060 166959060 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:166959060G>A ENST00000367872.4 + 2 463 c.219G>A c.(217-219)gaG>gaA p.E73E MAEL_ENST00000367870.2_Intron NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 73 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 GGCCCTCAGAGAAGCAGGTAA 0.512000 8 35 0 0 0.003080 0 0 GET4 51608 broad.mit.edu 37 7 927100 927100 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:927100C>T ENST00000407192.1 + 3 2768 c.251C>T c.(250-252)tCc>tTc p.S84F GET4_ENST00000265857.3_Missense_Mutation_p.S137F Q7L5D6 GET4_HUMAN golgi to ER traffic protein 4 homolog (S. cerevisiae) 137 tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex protein binding breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 AGTGGGGGCTCCGGGAAGCTG 0.637000 12 37 0 0 0.001368 0 0 FAM102A 399665 broad.mit.edu 37 9 130710457 130710457 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:130710457G>A ENST00000373095.1 - 6 884 c.509C>T c.(508-510)tCc>tTc p.S170F FAM102A_ENST00000373084.4_Missense_Mutation_p.S28F|FAM102A_ENST00000300434.3_Intron NM_001035254.2 NP_001030331.1 Q5T9C2 F102A_HUMAN family with sequence similarity 102, member A 170 Ser-rich. breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4) 10 CAGCTGCAGGGAGGAATCCTG 0.622000 13 29 0 0 0.003163 0 0 CAMTA1 23261 broad.mit.edu 37 1 7724037 7724037 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:7724037C>T ENST00000303635.7 + 9 1637 c.1430C>T c.(1429-1431)cCa>cTa p.P477L CAMTA1_ENST00000439411.2_Missense_Mutation_p.P477L NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 477 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CGGAAGATTCCAGAAACCACC 0.597000 T WWTR1 epitheliod hemangioendothelioma 14 38 0 0 0.004007 0 0 MAMDC2 256691 broad.mit.edu 37 9 72840934 72840934 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:72840934G>A ENST00000377182.4 + 14 2664 c.2047G>A c.(2047-2049)Gaa>Aaa p.E683K SMC5-AS1_ENST00000594708.1_RNA NM_153267.4 NP_694999.3 Q7Z304 MAMC2_HUMAN MAM domain containing 2 683 endoplasmic reticulum|membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 14 GGACTTAAATGAAATTGAGTA 0.299000 12 50 0 0 0.003163 0 0 MYLPF 29895 broad.mit.edu 37 16 30387967 30387967 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:30387967G>A ENST00000322861.7 + 5 385 c.304G>A c.(304-306)Gga>Aga p.G102R NM_013292.3 NP_037424.2 Q96A32 MLRS_HUMAN myosin light chain, phosphorylatable, fast skeletal muscle 102 EF-hand 2. skeletal muscle tissue development muscle myosin complex calcium ion binding|structural constituent of muscle large_intestine(2)|lung(4) 6 Colorectal(24;0.193) TGTGATCACCGGAGCCTTCAA 0.612000 5 11 0 0 0.003080 0 0 PLEC 5339 broad.mit.edu 37 8 144994766 144994766 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:144994766G>A ENST00000322810.4 - 32 9803 c.9634C>T c.(9634-9636)Cgg>Tgg p.R3212W PLEC_ENST00000356346.3_Missense_Mutation_p.R3061W|PLEC_ENST00000354958.2_Missense_Mutation_p.R3053W|PLEC_ENST00000527096.1_Missense_Mutation_p.R3098W|PLEC_ENST00000436759.2_Missense_Mutation_p.R3102W|PLEC_ENST00000345136.3_Missense_Mutation_p.R3075W|PLEC_ENST00000398774.2_Missense_Mutation_p.R3043W|PLEC_ENST00000354589.3_Missense_Mutation_p.R3075W|PLEC_ENST00000357649.2_Missense_Mutation_p.R3079W NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3212 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ACGGTCAGCCGGGCGCTGGTG 0.657000 6 35 0 0 0.001984 0 0 IGLV2-18 28814 broad.mit.edu 37 22 23077429 23077429 + RNA SNP T T A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:23077429T>A ENST00000390310.2 + 0 219 AAACTCATGATTTATGAGGTC 0.577000 44 101 0 0 0.003214 0 0 IQCH 64799 broad.mit.edu 37 15 67664852 67664852 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:67664852G>A ENST00000335894.4 + 9 1223 c.1157G>A c.(1156-1158)aGa>aAa p.R386K IQCH_ENST00000358767.3_Missense_Mutation_p.R213K|IQCH_ENST00000546225.1_Missense_Mutation_p.R134K|IQCH_ENST00000360277.4_Missense_Mutation_p.R138K NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 386 IQ. NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) TACAAAGCAAGAAAATTCTTC 0.443000 23 48 0 0 0.002780 0 0 TAT 6898 broad.mit.edu 37 16 71610304 71610304 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:71610304C>T ENST00000355962.4 - 2 148 c.15G>A c.(13-15)atG>atA p.M5I RP11-432I5.1_ENST00000561529.1_RNA NM_000353.2 NP_000344.1 P17735 ATTY_HUMAN tyrosine aminotransferase 5 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) TCATCTGAATCATGTATGGGT 0.512000 16 41 0 0 0.007413 0 0 GPATCH3 63906 broad.mit.edu 37 1 27223982 27223982 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:27223982G>A ENST00000361720.5 - 2 709 c.686C>T c.(685-687)tCc>tTc p.S229F NM_022078.2 NP_071361.2 Q96I76 GPTC3_HUMAN G patch domain containing 3 229 intracellular nucleic acid binding endometrium(2)|large_intestine(1)|lung(11)|skin(1) 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) GTAGCGCCGGGAGGAACCTGT 0.577000 31 69 0 0 0.002096 0 0 BARD1 580 broad.mit.edu 37 2 215645294 215645294 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:215645294G>A ENST00000260947.4 - 4 1438 c.1304C>T c.(1303-1305)gCt>gTt p.A435V BARD1_ENST00000449967.2_Missense_Mutation_p.A291V NM_000465.2 NP_000456.2 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 435 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTTAATAGAAGCAATATGGAG 0.393000 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 8 7 0 0 0.006214 0 0 CCDC109B 55013 broad.mit.edu 37 4 110585478 110585478 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:110585478G>A ENST00000394650.4 + 4 512 c.379G>A c.(379-381)Gat>Aat p.D127N NM_017918.4 NP_060388.2 Q9NWR8 C109B_HUMAN coiled-coil domain containing 109B 127 integral to membrane breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1) 9 OV - Ovarian serous cystadenocarcinoma(123;6.65e-06) TACCTTGATGGATATTTTGCT 0.333000 4 13 0 0 0.000602 0 0 HMCN1 83872 broad.mit.edu 37 1 186017936 186017936 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:186017936G>A ENST00000271588.4 + 42 6771 c.6542G>A c.(6541-6543)gGa>gAa p.G2181E HMCN1_ENST00000367492.2_Missense_Mutation_p.G2181E NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2181 Ig-like C2-type 19. 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 AATGTTGCTGGAAAAACTGAA 0.353000 14 36 0 0 0.006122 0 0 GNAS 2778 broad.mit.edu 37 20 57428970 57428970 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:57428970G>A ENST00000371100.4 + 1 1202 c.650G>A c.(649-651)aGc>aAc p.S217N GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.S217N|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.S217N|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.A154T NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GGAGGCTACAGCCCTCCCCCT 0.642000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 3 5 0 0 0.004672 0 0 KLRK1 22914 broad.mit.edu 37 12 10539580 10539580 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:10539580C>T ENST00000240618.6 - 3 210 c.70G>A c.(70-72)Gat>Aat p.D24N KLRC4-KLRK1_ENST00000539300.1_3'UTR|KLRK1_ENST00000540818.1_Missense_Mutation_p.D24N|RP11-277P12.20_ENST00000500682.1_RNA NM_001199805.1|NM_007360.3 NP_001186734.1|NP_031386.2 P26718 NKG2D_HUMAN killer cell lectin-like receptor subfamily K, member 1 24 natural killer cell activation|T cell costimulation integral to plasma membrane sugar binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1) 9 TTCTTCAGATCCAAGTTATAA 0.338000 8 5 0 0 0.006214 0 0 COL13A1 1305 broad.mit.edu 37 10 71648064 71648064 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:71648064C>T ENST00000356340.3 + 7 1063 c.527C>T c.(526-528)cCc>cTc p.P176L COL13A1_ENST00000398968.3_Missense_Mutation_p.P176L|COL13A1_ENST00000398973.3_Missense_Mutation_p.P176L|COL13A1_ENST00000398969.3_Missense_Mutation_p.P138L|COL13A1_ENST00000517713.1_Missense_Mutation_p.P176L|COL13A1_ENST00000354547.3_Missense_Mutation_p.P176L|COL13A1_ENST00000522165.1_Missense_Mutation_p.P176L|COL13A1_ENST00000357811.3_Missense_Mutation_p.P176L|COL13A1_ENST00000398966.3_Missense_Mutation_p.P176L|COL13A1_ENST00000398972.3_Missense_Mutation_p.P176L|COL13A1_ENST00000398974.3_Missense_Mutation_p.P164L|COL13A1_ENST00000398971.3_Missense_Mutation_p.P176L|COL13A1_ENST00000520267.1_Missense_Mutation_p.P138L|COL13A1_ENST00000398978.3_Missense_Mutation_p.P176L|COL13A1_ENST00000398964.3_Missense_Mutation_p.P147L|COL13A1_ENST00000520133.1_Missense_Mutation_p.P147L Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 176 Triple-helical region 1 (COL1). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) TTTCAGGGTCCCATTGGGCTG 0.537000 7 11 0 0 0.003080 0 0 SPON1 10418 broad.mit.edu 37 11 14284296 14284296 + RNA SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:14284296G>A ENST00000310358.7 + 0 2570 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) CCAGTGGTCGGAATGTAACAA 0.532000 12 10 0 0 0.001368 0 0 CDK4 1019 broad.mit.edu 37 12 58143034 58143034 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:58143034G>A ENST00000257904.6 - 7 1115 c.750C>T c.(748-750)ccC>ccT p.P250P CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000312990.6_3'UTR|TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000549606.1_5'UTR|CDK4_ENST00000540325.1_Silent_p.P130P NM_000075.3 NP_000066.1 P11802 CDK4_HUMAN cyclin-dependent kinase 4 250 Protein kinase. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 21 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) GCCCTCTGGGGGGAAAGGCTC 0.637000 Mis melanoma Hereditary Melanoma 16 33 0 0 0.004007 0 0 CR1 1378 broad.mit.edu 37 1 207789989 207789989 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:207789989C>T ENST00000367049.4 + 41 6731 c.6731C>T c.(6730-6732)cCc>cTc p.P2244L CR1_ENST00000367053.1_Missense_Mutation_p.P1794L|CR1_ENST00000367051.1_Missense_Mutation_p.P1794L|CR1_ENST00000367052.1_Missense_Mutation_p.P1794L|CR1_ENST00000400960.2_Missense_Mutation_p.P1794L NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1794 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GGAGATATTCCCTATGGAAAA 0.453000 31 43 0 0 0.002445 0 0 COBLL1 22837 broad.mit.edu 37 2 165551322 165551322 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:165551322G>A ENST00000375458.2 - 11 2801 c.2580C>T c.(2578-2580)gcC>gcT p.A860A COBLL1_ENST00000342193.4_Silent_p.A898A|COBLL1_ENST00000392717.2_Silent_p.A936A|COBLL1_ENST00000409184.3_Silent_p.A898A|COBLL1_ENST00000194871.6_Silent_p.A965A NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 936 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 GTTTGGCCTGGGCATTTGAAG 0.433000 18 26 0 0 0.006122 0 0 PRSS1 5644 broad.mit.edu 37 7 142459670 142459670 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:142459670G>A ENST00000486171.1 + 4 305 c.288G>A c.(286-288)gaG>gaA p.E96E PRSS1_ENST00000311737.7_Silent_p.E82E P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 82 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) AAGTCCTGGAGGGGAATGAGC 0.542000 8 122 0 0 0.006214 0 0 RFX4 5992 broad.mit.edu 37 12 107002601 107002601 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:107002601G>A ENST00000392842.1 + 2 484 c.70G>A c.(70-72)Gaa>Aaa p.E24K RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.E33K NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 24 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 ATGTCTCAACGAAAGTGAAAA 0.343000 8 15 0 0 0.004482 0 0 FUT2 2524 broad.mit.edu 37 19 49206302 49206302 + Missense_Mutation SNP A A T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:49206302A>T ENST00000425340.2 + 2 206 c.89A>T c.(88-90)cAg>cTg p.Q30L FUT2_ENST00000391876.4_Missense_Mutation_p.Q30L NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) 30 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) CACGTTCAGCAGCGGCTAGCG 0.537000 39 96 0 0 0.006230 0 0 PSD 5662 broad.mit.edu 37 10 104174892 104174892 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:104174892G>A ENST00000020673.5 - 4 1378 c.852C>T c.(850-852)tcC>tcT p.S284S PSD_ENST00000406432.1_Silent_p.S284S NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 284 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GGTCTGTCTCGGAGTACTTGG 0.662000 7 19 0 0 0.001984 0 0 PVRL3 25945 broad.mit.edu 37 3 110852704 110852704 + Missense_Mutation SNP G G C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:110852704G>C ENST00000485303.1 + 6 1567 c.1292G>C c.(1291-1293)aGa>aCa p.R431T PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR NM_001243286.1|NM_015480.2 NP_001230215.1|NP_056295.1 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 431 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3) 19 TATAGGAGAAGACGGACGTTT 0.413000 37 58 0 0 0.003755 0 0 SHANK2 22941 broad.mit.edu 37 11 70331925 70331925 + Silent SNP G G A rs140434354 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:70331925G>A ENST00000338508.4 - 32 4475 c.4476C>T c.(4474-4476)atC>atT p.I1492I SHANK2_ENST00000449833.2_Silent_p.I896I|SHANK2_ENST00000423696.2_Silent_p.I1112I|SHANK2_ENST00000409161.1_Silent_p.I895I Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1112 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CCACCTCCTCGATCCCAGAGT 0.592000 13 22 0 0 0.003163 0 0 DSG2 1829 broad.mit.edu 37 18 29101149 29101149 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:29101149G>A ENST00000261590.8 + 5 675 c.466G>A c.(466-468)Gaa>Aaa p.E156K DSG2_ENST00000585206.1_Missense_Mutation_p.E156K NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 156 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) CAATGACAACGAACCAGTGTT 0.373000 27 26 0 0 0.001786 0 0 CLSTN2 64084 broad.mit.edu 37 3 140178396 140178396 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:140178396C>T ENST00000458420.3 + 7 1197 c.1007C>T c.(1006-1008)tCc>tTc p.S336F RP11-68L1.2_ENST00000503357.1_RNA NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 336 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CTCTTGCCATCCCCTAGCGCT 0.557000 HNSCC(16;0.037) 20 43 0 0 0.004656 0 0 THSD7B 80731 broad.mit.edu 37 2 138413140 138413140 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:138413140C>T ENST00000409968.1 + 22 4193 c.4015C>T c.(4015-4017)Cat>Tat p.H1339Y THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.H1311Y|THSD7B_ENST00000272643.3_Missense_Mutation_p.H1342Y 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) TTCAATATCTCATGCAGCTGG 0.512000 6 6 0 0 0.003080 0 0 PRAMEF13 400736 broad.mit.edu 37 1 13448286 13448286 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:13448286G>A ENST00000376132.3 - 4 1291 c.1189C>T c.(1189-1191)Ctg>Ttg p.L397L NM_001024661.1 NP_001019832.1 Q5VWM6 PRA13_HUMAN PRAME family member 13 397 breast(1)|large_intestine(1)|lung(3)|skin(2) 7 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;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGGCGCAACAGGTCCTTCAGG 0.547000 22 42 0 0 0.001512 0 0 TNN 63923 broad.mit.edu 37 1 175106034 175106034 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:175106034G>A ENST00000239462.4 + 17 3618 c.3505G>A c.(3505-3507)Gaa>Aaa p.E1169K NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1169 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GACTGCCAATGAATCTGCCTA 0.468000 7 25 0 0 0.003080 0 0 OR2A2 442361 broad.mit.edu 37 7 143807181 143807181 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:143807181G>A ENST00000408979.2 + 1 575 c.506G>A c.(505-507)gGg>gAg p.G169E NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) CCCTTCTGTGGGCCCCGGGAT 0.527000 31 42 0 0 0.001512 0 0 ZDHHC3 51304 broad.mit.edu 37 3 44986749 44986749 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:44986749G>A ENST00000296127.3 - 3 615 c.342C>T c.(340-342)ttC>ttT p.F114F ZDHHC3_ENST00000424952.2_Silent_p.F114F|ZDHHC3_ENST00000342790.4_Silent_p.F148F NM_016598.2 NP_057682.1 Q9NYG2 ZDHC3_HUMAN zinc finger, DHHC-type containing 3 114 Golgi membrane|integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665) AACTCTCGATGAATTCTTTAG 0.517000 34 80 0 0 0.006230 0 0 AMOT 154796 broad.mit.edu 37 X 112024185 112024185 + Missense_Mutation SNP T T A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:112024185T>A ENST00000371959.3 - 9 2401 c.2402A>T c.(2401-2403)cAc>cTc p.H801L AMOT_ENST00000371962.1_Missense_Mutation_p.H569L|AMOT_ENST00000371958.1_Missense_Mutation_p.H569L|AMOT_ENST00000524145.1_Missense_Mutation_p.H801L|AMOT_ENST00000304758.1_Missense_Mutation_p.H392L NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 801 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 GGTGGATGAGTGGGAGAGCAA 0.537000 43 16 0 0 0.002222 0 0 ZWILCH 55055 broad.mit.edu 37 15 66811271 66811271 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:66811271G>A ENST00000307897.5 + 5 755 c.375G>A c.(373-375)aaG>aaA p.K125K ZWILCH_ENST00000565627.1_Silent_p.K11K|ZWILCH_ENST00000535141.2_Silent_p.K11K|RPL4_ENST00000564517.1_Intron|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565960.1_3'UTR|ZWILCH_ENST00000446801.2_Silent_p.K11K NM_017975.3 NP_060445.3 Q9H900 ZWILC_HUMAN zwilch kinetochore protein 125 cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1) 18 CCCATTTGAAGATTAATCTGC 0.398000 8 26 0 0 0.003080 0 0 VARS 7407 broad.mit.edu 37 6 31747242 31747242 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:31747242G>A ENST00000375663.3 - 28 3800 c.3360C>T c.(3358-3360)tcC>tcT p.S1120S NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 1120 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) CGGCCCGCAGGGAGCGCACGG 0.692000 54 38 0 0 0.003610 0 0 COL6A6 131873 broad.mit.edu 37 3 130354588 130354588 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:130354588G>A ENST00000358511.6 + 27 5105 c.5074G>A c.(5074-5076)Gga>Aga p.G1692R COL6A6_ENST00000453409.2_Missense_Mutation_p.G1692R NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1692 Triple-helical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TGGGCTGAAGGGAGCTAGAGG 0.383000 9 14 0 0 0.000978 0 0 COL27A1 85301 broad.mit.edu 37 9 116999285 116999285 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:116999285C>T ENST00000356083.3 + 18 3035 c.2644C>T c.(2644-2646)Ccc>Tcc p.P882S NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 882 Collagen-like 5.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 GCCAGGGTTCCCCGGTGCACG 0.617000 8 19 0 0 0.006214 0 0 CD248 57124 broad.mit.edu 37 11 66083162 66083162 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:66083162G>A ENST00000311330.3 - 1 1353 c.1337C>T c.(1336-1338)tCc>tTc p.S446F RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 446 Pro-rich. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) CCGGGTGACGGAGAGCACTGA 0.657000 36 72 0 0 0.004878 0 0 TRAV13-1 28671 broad.mit.edu 37 14 22337432 22337432 + RNA SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:22337432G>A ENST00000390436.2 + 0 246 AAATGTGGGCGAAAAGAAAGA 0.428000 65 97 0 0 0.003610 0 0 RYR1 6261 broad.mit.edu 37 19 39023320 39023320 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:39023320C>T ENST00000355481.4 + 77 11319 c.11188C>T c.(11188-11190)Ctg>Ttg p.L3730L RYR1_ENST00000359596.3_Silent_p.L3735L|RYR1_ENST00000360985.3_Silent_p.L3735L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3735 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) GAGCTGCCACCTGGAGGAGGG 0.617000 7 29 0 0 0.001984 0 0 DNAH7 56171 broad.mit.edu 37 2 196834767 196834767 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:196834767C>T ENST00000312428.6 - 17 2210 c.2110G>A c.(2110-2112)Gaa>Aaa p.E704K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 704 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TAAAATTCTTCTGATTGCTTA 0.343000 16 48 0 0 0.004990 0 0 ANKRD45 339416 broad.mit.edu 37 1 173596232 173596232 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:173596232C>T ENST00000333279.2 - 4 623 c.563G>A c.(562-564)gGa>gAa p.G188E NM_198493.2 NP_940895.1 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 204 NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 TTTCCCTGATCCCTTTTCTGT 0.358000 15 52 0 0 0.006122 0 0 NBEA 26960 broad.mit.edu 37 13 36125086 36125086 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:36125086C>T ENST00000400445.3 + 43 7257 c.6723C>T c.(6721-6723)ttC>ttT p.F2241F NBEA_ENST00000537702.1_Silent_p.F34F|NBEA_ENST00000379939.2_Silent_p.F2238F|NBEA_ENST00000310336.4_Silent_p.F2241F|NBEA_ENST00000540320.1_Silent_p.F2241F NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 2241 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TGTTTAATTTCCCTGATCAAG 0.388000 6 22 0 0 0.001984 0 0 SAP130 79595 broad.mit.edu 37 2 128747283 128747283 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:128747283G>A ENST00000357702.5 - 13 1844 c.1713C>T c.(1711-1713)atC>atT p.I571I SAP130_ENST00000259234.6_Silent_p.I545I|SAP130_ENST00000259235.3_Silent_p.I571I NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 571 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) GGGCCGGCTGGATACCCTGGG 0.567000 24 34 0 0 0.004656 0 0 HERC2P2 400322 broad.mit.edu 37 15 23311732 23311732 + RNA SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:23311732G>A ENST00000560464.1 - 0 3372 ACCGAGTCAGGGAGTGCAGCG 0.637000 8 23 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179634502 179634502 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179634502G>A ENST00000589042.1 - 37 9030 c.8806C>T c.(8806-8808)Cat>Tat p.H2936Y TTN_ENST00000342175.6_Missense_Mutation_p.H2890Y|TTN_ENST00000342992.6_Missense_Mutation_p.H2936Y|TTN_ENST00000359218.5_Missense_Mutation_p.H2890Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H2890Y|TTN_ENST00000591111.1_Missense_Mutation_p.H2936Y|TTN_ENST00000360870.5_Missense_Mutation_p.H2936Y NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2674 Ig-like 16. 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) ATCAGCTGATGGAGTTTTCCC 0.478000 49 110 0 0 0.003610 0 0 ZNF404 342908 broad.mit.edu 37 19 44377618 44377618 + Missense_Mutation SNP C C T rs35756172 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:44377618C>T ENST00000587539.1 - 3 747 c.748G>A c.(748-750)Gaa>Aaa p.E250K ZNF404_ENST00000324394.6_Missense_Mutation_p.E248K NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) CTAAACGTTTCCCCACATTCC 0.388000 19 35 0 0 0.007413 0 0 KDM7A 80853 broad.mit.edu 37 7 139791834 139791834 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:139791834G>A ENST00000397560.2 - 19 2598 c.2501C>T c.(2500-2502)tCa>tTa p.S834L NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 834 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) ACTAATTTCTGATGAACCTTC 0.418000 9 15 0 0 0.004482 0 0 PLA2G2D 26279 broad.mit.edu 37 1 20442830 20442830 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:20442830C>T ENST00000375105.3 - 2 239 c.181G>A c.(181-183)Gac>Aac p.D61N NM_012400.2 NP_036532.1 Q9UNK4 PA2GD_HUMAN phospholipase A2, group IID 61 inflammatory response|lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity endometrium(1)|lung(2) 3 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) AGTTACCAGTCCGTGGCATCT 0.527000 Multiple Myeloma(11;0.12) 20 27 0 0 0.001882 0 0 ZNF429 353088 broad.mit.edu 37 19 21720869 21720869 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:21720869C>T ENST00000358491.4 + 4 2222 c.2014C>T c.(2014-2016)Cgt>Tgt p.R672C ZNF429_ENST00000597078.1_Intron NM_001001415.2 NP_001001415.2 Q86V71 ZN429_HUMAN zinc finger protein 429 672 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 agatcgagaccgtcctggcta 0.478000 3 2 0 0 0.004672 0 0 ACRC 93953 broad.mit.edu 37 X 70817803 70817803 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:70817803C>T ENST00000373695.1 + 6 762 c.225C>T c.(223-225)tcC>tcT p.S75S ACRC_ENST00000373696.3_Silent_p.S75S Q96QF7 ACRC_HUMAN acidic repeat containing 75 nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) CACTCAGCTCCGTGGTAGTGA 0.398000 4 9 0 0 0.000602 0 0 DARS 1615 broad.mit.edu 37 2 136691503 136691503 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:136691503G>A ENST00000264161.4 - 6 696 c.481C>T c.(481-483)Cgg>Tgg p.R161W DARS_ENST00000537273.1_Missense_Mutation_p.R61W NM_001349.2 NP_001340.2 P14868 SYDC_HUMAN aspartyl-tRNA synthetase 161 aspartyl-tRNA aminoacylation|protein complex assembly cytosol|nuclear membrane|plasma membrane|soluble fraction aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2) 15 BRCA - Breast invasive adenocarcinoma(221;0.168) L-Aspartic Acid(DB00128) GCCTCAGGCCGAACAGCATCA 0.388000 9 26 0 0 0.000978 0 0 PTGS2 5743 broad.mit.edu 37 1 186648524 186648524 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:186648524C>T ENST00000367468.5 - 2 235 c.99G>A c.(97-99)atG>atA p.M33I PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 33 EGF-like. cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) ATCCCACACTCATACATACAC 0.408000 16 23 0 0 0.004007 0 0 BRINP1 1620 broad.mit.edu 37 9 122011343 122011343 + Nonsense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:122011343G>A ENST00000265922.3 - 3 765 c.304C>T c.(304-306)Caa>Taa p.Q102* DBC1_ENST00000373964.2_Nonsense_Mutation_p.Q102* NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 102 MACPF. cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 ATGCTCCTTTGAAACTCCGGC 0.552000 18 23 0 0 0.006122 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626916 108626916 + Missense_Mutation SNP A A C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:108626916A>C ENST00000264047.2 + 9 1618 c.1342A>C c.(1342-1344)Act>Cct p.T448P SLC5A7_ENST00000540517.1_Missense_Mutation_p.T343P|SLC5A7_ENST00000409059.1_Missense_Mutation_p.T448P NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 448 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) CCTGAGAATAACTGGAGGGGA 0.438000 26 31 0 0 0.007291 0 0 IMPG2 50939 broad.mit.edu 37 3 100961713 100961713 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:100961713C>T ENST00000193391.7 - 14 3028 c.2841G>A c.(2839-2841)caG>caA p.Q947Q NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 947 SEA 2. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TTTCTAAGTTCTGGAACCCCG 0.423000 12 26 0 0 0.001855 0 0 POTEG 404785 broad.mit.edu 37 14 19573136 19573136 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:19573136G>A ENST00000409832.3 + 8 1286 c.1234G>A c.(1234-1236)Gat>Aat p.D412N NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 412 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 TAAGGGTGGTGATAGAAAGGT 0.323000 5 45 0 0 0.003080 0 0 DOK5 55816 broad.mit.edu 37 20 53205106 53205106 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:53205106G>A ENST00000262593.5 + 3 609 c.259G>A c.(259-261)Gat>Aat p.D87N DOK5_ENST00000395939.1_5'UTR NM_018431.3 NP_060901.2 Q9P104 DOK5_HUMAN docking protein 5 87 PH. insulin receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1) 19 Colorectal(105;0.202) TTTCAATGACGATACCTCCAA 0.418000 28 60 0 0 0.002096 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450194 105450194 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:105450194G>A ENST00000337685.2 + 5 1554 c.769G>A c.(769-771)Gag>Aag p.E257K MUM1L1_ENST00000357175.2_Missense_Mutation_p.E257K|MUM1L1_ENST00000372552.1_Missense_Mutation_p.E257K NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 257 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 TTTGAAAGAAGAGAGCGAGGA 0.453000 8 4 0 0 0.003080 0 0 BAZ2B 29994 broad.mit.edu 37 2 160206705 160206705 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:160206705G>A ENST00000392783.2 - 28 4872 c.4377C>T c.(4375-4377)ttC>ttT p.F1459F BAZ2B_ENST00000355831.2_Silent_p.F1425F|BAZ2B_ENST00000343439.5_Silent_p.F1359F|BAZ2B_ENST00000392782.1_Silent_p.F1423F NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 GTTTCTGAAGGAATAGATTTG 0.378000 9 29 0 0 0.006214 0 0 FMN2 56776 broad.mit.edu 37 1 240370124 240370124 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:240370124G>A ENST00000319653.9 + 5 2242 c.2012G>A c.(2011-2013)gGa>gAa p.G671E NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 671 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AAGTCTGAGGGACAGGCCACT 0.428000 13 25 0 0 0.004007 0 0 TMEM131 23505 broad.mit.edu 37 2 98453576 98453576 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:98453576G>A ENST00000186436.5 - 8 996 c.768C>T c.(766-768)ctC>ctT p.L256L TMEM131_ENST00000425805.2_Silent_p.L207L NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 256 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 GACCCGTTGGGAGTTCTAGGT 0.438000 13 41 0 0 0.001855 0 0 TLN2 83660 broad.mit.edu 37 15 62942303 62942303 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:62942303C>T ENST00000561311.1 + 4 387 c.157C>T c.(157-159)Ctt>Ttt p.L53F TLN2_ENST00000306829.6_Missense_Mutation_p.L53F Q9Y4G6 TLN2_HUMAN talin 2 53 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TGGACTCTTTCTTTCGGATGA 0.493000 20 50 0 0 0.001523 0 0 SYT9 143425 broad.mit.edu 37 11 7439308 7439308 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:7439308C>T ENST00000318881.6 + 5 1523 c.1286C>T c.(1285-1287)cCc>cTc p.P429L NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 429 C2 2. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) GATGTCCCTCCCGAGAACATT 0.478000 18 25 0 0 0.002299 0 0 KIAA1009 22832 broad.mit.edu 37 6 84859352 84859352 + Missense_Mutation SNP G G T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:84859352G>T ENST00000403245.3 - 24 3814 c.3700C>A c.(3700-3702)Ctt>Att p.L1234I KIAA1009_ENST00000257766.4_Missense_Mutation_p.L1158I|KIAA1009_ENST00000461137.1_5'UTR NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 1234 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) TTTTGGCAAAGGAGTTTCTCT 0.373000 29 14 5.77227e-19 7.59593e-19 0.001512 1 0 ZNF248 57209 broad.mit.edu 37 10 38121311 38121311 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:38121311G>A ENST00000395867.3 - 6 1522 c.972C>T c.(970-972)ctC>ctT p.L324L ZNF248_ENST00000357328.4_Silent_p.L324L|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 TATATTCACGGAGAATCTTTC 0.353000 20 41 0 0 0.001523 0 0 HDAC9 9734 broad.mit.edu 37 7 18688097 18688097 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:18688097C>T ENST00000406451.3 + 11 1399 c.1249C>T c.(1249-1251)Ccc>Tcc p.P417S HDAC9_ENST00000405010.3_Missense_Mutation_p.P417S|HDAC9_ENST00000524023.1_Missense_Mutation_p.P340S|HDAC9_ENST00000406072.1_Missense_Mutation_p.P404S|HDAC9_ENST00000432645.2_Missense_Mutation_p.P417S|HDAC9_ENST00000428307.2_Missense_Mutation_p.P373S|HDAC9_ENST00000417496.2_Missense_Mutation_p.P415S|HDAC9_ENST00000456174.2_Missense_Mutation_p.P389S|HDAC9_ENST00000401921.1_Missense_Mutation_p.P376S|HDAC9_ENST00000441542.2_Missense_Mutation_p.P420S NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 417 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) AGGTGGAGTTCCCTTACATCC 0.428000 14 27 0 0 0.003163 0 0 PCSK1 5122 broad.mit.edu 37 5 95730586 95730586 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:95730586C>T ENST00000311106.3 - 13 2103 c.1866G>A c.(1864-1866)aaG>aaA p.K622K PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.K575K NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 622 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GATCCACCATCTTCTCCACCC 0.502000 27 17 0 0 0.001786 0 0 SYT12 91683 broad.mit.edu 37 11 66813297 66813297 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:66813297C>T ENST00000393946.2 + 10 2203 c.1041C>T c.(1039-1041)aaC>aaT p.N347N SYT12_ENST00000527043.1_Silent_p.N347N|SYT12_ENST00000525457.1_Silent_p.N347N Q8IV01 SYT12_HUMAN synaptotagmin XII 347 C2 2. cell junction|integral to membrane|synaptic vesicle membrane NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 20 ATGACCCCAACCCGGTGTTCA 0.612000 18 21 0 0 0.006122 0 0 KRT83 3889 broad.mit.edu 37 12 52708528 52708528 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:52708528C>T ENST00000293670.3 - 9 1431 c.1369G>A c.(1369-1371)Gtc>Atc p.V457I NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 457 Tail. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) GCACTGCAGACGCTGCCCGTC 0.672000 5 8 0 0 0.000602 0 0 SRGAP3 9901 broad.mit.edu 37 3 9036042 9036042 + Missense_Mutation SNP A A T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:9036042A>T ENST00000383836.3 - 19 2820 c.2393T>A c.(2392-2394)aTa>aAa p.I798K SRGAP3_ENST00000360413.3_Missense_Mutation_p.I774K NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 798 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CTGTACAACTATGTACTGATG 0.562000 T RAF1 pilocytic astrocytoma 12 24 0 0 0.001855 0 0 IL36B 27177 broad.mit.edu 37 2 113783693 113783693 + Nonsense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:113783693C>T ENST00000259213.4 - 5 485 c.378G>A c.(376-378)tgG>tgA p.W126* NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 126 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 ctcctattccccattggtcaa 0.473000 6 14 0 0 0.001168 0 0 RASGRP3 25780 broad.mit.edu 37 2 33783992 33783992 + Nonsense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:33783992G>A ENST00000403687.3 + 17 2699 c.1959G>A c.(1957-1959)tgG>tgA p.W653* RASGRP3_ENST00000407811.1_Nonsense_Mutation_p.W652*|RASGRP3_ENST00000402538.3_Nonsense_Mutation_p.W653*|AC020594.5_ENST00000437680.1_RNA NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 653 MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) TTGCCAAATGGGAAAATGAGA 0.532000 19 31 0 0 0.006122 0 0 PLCG1 5335 broad.mit.edu 37 20 39791897 39791897 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:39791897C>T ENST00000373272.2 + 8 1176 c.771C>T c.(769-771)ttC>ttT p.F257F PLCG1_ENST00000373271.1_Silent_p.F257F|PLCG1_ENST00000244007.3_Silent_p.F257F NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 257 activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) TCCAGCAGTTCCTTCTTGACT 0.597000 33 41 0 0 0.004878 0 0 ANKRD45 339416 broad.mit.edu 37 1 173596233 173596233 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:173596233C>T ENST00000333279.2 - 4 622 c.562G>A c.(562-564)Gga>Aga p.G188R NM_198493.2 NP_940895.1 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 204 NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 TTCCCTGATCCCTTTTCTGTG 0.353000 15 53 0 0 0.006122 0 0 SRCAP 10847 broad.mit.edu 37 16 30740727 30740727 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:30740727C>T ENST00000262518.4 + 27 6346 c.5961C>T c.(5959-5961)ccC>ccT p.P1987P SRCAP_ENST00000344771.4_Silent_p.P1829P|SRCAP_ENST00000395059.2_Silent_p.P1925P NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1987 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) AGGCACCTCCCCCTTCCCTGC 0.587000 17 17 0 0 0.004007 0 0 MAEA 10296 broad.mit.edu 37 4 1332318 1332318 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:1332318C>T ENST00000303400.4 + 8 1071 c.1008C>T c.(1006-1008)tcC>tcT p.S336S MAEA_ENST00000264750.6_Silent_p.S295S|MAEA_ENST00000512289.1_3'UTR|MAEA_ENST00000452175.2_Silent_p.S257S|MAEA_ENST00000514708.1_Silent_p.S268S|MAEA_ENST00000510794.1_Silent_p.S335S|MAEA_ENST00000505839.1_Silent_p.S288S|MAEA_ENST00000505177.2_Silent_p.S374S NM_001017405.1 NP_001017405.1 Q7L5Y9 MAEA_HUMAN macrophage erythroblast attacher 336 cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle actin binding NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(23;0.0201) GTGCCAACTCCCGCCTGGTCT 0.622000 6 15 0 0 0.001168 0 0 OR2C3 81472 broad.mit.edu 37 1 247695288 247695288 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:247695288C>T ENST00000366487.3 - 2 887 c.526G>A c.(526-528)Gac>Aac p.D176N GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 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;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) AAGAAGTGGTCGATGCAATTG 0.552000 11 8 0 0 0.000978 0 0 ANKRD11 29123 broad.mit.edu 37 16 89345503 89345503 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:89345503G>A ENST00000301030.4 - 9 7907 c.7447C>T c.(7447-7449)Ctc>Ttc p.L2483F ANKRD11_ENST00000378330.2_Missense_Mutation_p.L2483F NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 2483 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) AGCTTGCTGAGCGGCTTGCCG 0.657000 6 11 0 0 0.001168 0 0 FAT3 120114 broad.mit.edu 37 11 92531158 92531158 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:92531158C>T ENST00000298047.6 + 9 4996 c.4979C>T c.(4978-4980)tCc>tTc p.S1660F FAT3_ENST00000409404.2_Missense_Mutation_p.S1660F|FAT3_ENST00000525166.1_Missense_Mutation_p.S1510F Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1660 Cadherin 15. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GTGCGCATTTCCGTCACCATG 0.438000 TCGA Ovarian(4;0.039) 126 274 0 0 0.003610 0 0 DNAH3 55567 broad.mit.edu 37 16 21031009 21031009 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:21031009C>T ENST00000261383.3 - 41 5958 c.5959G>A c.(5959-5961)Gat>Aat p.D1987N DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1987 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGGTTATCATCCATGCCCATG 0.423000 19 41 0 0 0.001216 0 0 DRD3 1814 broad.mit.edu 37 3 113850117 113850117 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:113850117G>A ENST00000383673.2 - 6 1284 c.854C>T c.(853-855)tCc>tTc p.S285F DRD3_ENST00000295881.7_Missense_Mutation_p.S285F|DRD3_ENST00000467632.1_Missense_Mutation_p.S285F|DRD3_ENST00000460779.1_Missense_Mutation_p.S285F NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 285 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) GGGACTCAGGGAATTCCGAGT 0.527000 53 97 0 0 0.003610 0 0 OR51I1 390063 broad.mit.edu 37 11 5462626 5462626 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:5462626G>A ENST00000380211.1 - 1 118 c.119C>T c.(118-120)tCc>tTc p.S40F HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCTACAATGGAGATCATGTA 0.517000 22 14 0 0 0.003954 0 0 VCAM1 7412 broad.mit.edu 37 1 101194910 101194910 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:101194910G>A ENST00000294728.2 + 5 1277 c.1176G>A c.(1174-1176)ctG>ctA p.L392L VCAM1_ENST00000370119.4_Silent_p.L330L|VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370115.1_Intron NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 392 Ig-like C2-type 4. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) ATAAGAAACTGGAAAAGGGAA 0.423000 25 59 0 0 0.007291 0 0 ATR 545 broad.mit.edu 37 3 142217461 142217461 + Nonsense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:142217461G>A ENST00000350721.4 - 32 5657 c.5536C>T c.(5536-5538)Cga>Tga p.R1846* ATR_ENST00000383101.3_Nonsense_Mutation_p.R1782* NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1846 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TCATATCCTCGTTGGTAGGAG 0.343000 Other conserved DNA damage response genes 6 20 0 0 0.001984 0 0 NFE2L1 4779 broad.mit.edu 37 17 46128819 46128819 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:46128819C>T ENST00000362042.3 + 2 955 c.339C>T c.(337-339)gtC>gtT p.V113V NFE2L1_ENST00000361665.3_Silent_p.V113V|NFE2L1_ENST00000357480.5_Silent_p.V113V|NFE2L1_ENST00000585291.1_Silent_p.V113V NM_003204.2 NP_003195.1 Q14494 NF2L1_HUMAN nuclear factor, erythroid 2-like 1 113 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AGGGGTCTGTCTCTGGCAGTC 0.632000 18 55 0 0 0.006122 0 0 IPO13 9670 broad.mit.edu 37 1 44422550 44422550 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:44422550C>T ENST00000372343.3 + 5 1835 c.1173C>T c.(1171-1173)ttC>ttT p.F391F IPO13_ENST00000492152.1_3'UTR NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 391 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CAGTCTACTTCCAGCTGGTGG 0.507000 21 33 0 0 0.001216 0 0 SH2B1 25970 broad.mit.edu 37 16 28880699 28880699 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:28880699C>T ENST00000337120.5 + 4 4595 c.1304C>T c.(1303-1305)tCg>tTg p.S435L SH2B1_ENST00000322610.8_Missense_Mutation_p.S435L|SH2B1_ENST00000359285.5_Missense_Mutation_p.S435L|SH2B1_ENST00000395532.4_Missense_Mutation_p.S435L|SH2B1_ENST00000545570.1_Missense_Mutation_p.S125L|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Missense_Mutation_p.S99L NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 435 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 GACCGCCTGTCGCAGGGTAAG 0.642000 14 14 0 0 0.004990 0 0 TPO 7173 broad.mit.edu 37 2 1418267 1418267 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:1418267C>T ENST00000345913.4 + 2 178 c.87C>T c.(85-87)ctC>ctT p.L29L TPO_ENST00000382269.3_Silent_p.L29L|TPO_ENST00000349624.3_Silent_p.L29L|TPO_ENST00000346956.3_Silent_p.L29L|TPO_ENST00000382201.3_Silent_p.L29L|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Silent_p.L29L|TPO_ENST00000382198.1_Silent_p.L29L|TPO_ENST00000329066.4_Silent_p.L29L|TPO_ENST00000539820.1_Silent_p.L29L NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 29 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) GGAAAGAACTCCTTTGGGGTA 0.458000 10 13 0 0 0.001855 0 0 MYO1H 283446 broad.mit.edu 37 12 109853353 109853353 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:109853353G>A ENST00000310903.5 + 15 1583 c.1477G>A c.(1477-1479)Ggc>Agc p.G493S MYO1H_ENST00000431443.2_Missense_Mutation_p.G503S B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 TGGTCCAAAGGGCCGAAAGAG 0.517000 3 2 0 0 0.000602 0 0 JKAMP 51528 broad.mit.edu 37 14 59951796 59951796 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:59951796G>A ENST00000554271.1 + 1 534 c.8G>A c.(7-9)gGa>gAa p.G3E RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000425728.2_Intron|JKAMP_ENST00000261247.9_Intron|JKAMP_ENST00000556985.1_Intron|JKAMP_ENST00000557560.1_3'UTR|JKAMP_ENST00000356057.5_Missense_Mutation_p.G3E Q9P055 JKAMP_HUMAN JNK1/MAPK8-associated membrane protein 0 ER-associated protein catabolic process|response to unfolded protein endoplasmic reticulum membrane|integral to membrane ubiquitin protein ligase binding breast(1)|endometrium(1)|kidney(1)|lung(3) 6 GAAATGAAAGGAGAAATTCAA 0.413000 34 51 0 0 0.004878 0 0 TDRKH 11022 broad.mit.edu 37 1 151747916 151747916 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:151747916C>T ENST00000368822.1 - 10 2019 c.1386G>A c.(1384-1386)ggG>ggA p.G462G TDRKH_ENST00000368823.1_Silent_p.G458G|TDRKH_ENST00000440583.2_Silent_p.G238G|TDRKH_ENST00000458431.2_Silent_p.G462G|TDRKH_ENST00000368827.6_Silent_p.G462G|TDRKH_ENST00000368824.3_Silent_p.G462G|TDRKH_ENST00000368825.3_Silent_p.G417G Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing 462 RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) AAGTTGAGATCCCAGTCTGGA 0.443000 21 54 0 0 0.002780 0 0 SRRM2 23524 broad.mit.edu 37 16 2811958 2811958 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:2811958C>T ENST00000301740.8 + 11 1978 c.1429C>T c.(1429-1431)Ccc>Tcc p.P477S NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 477 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 TTCTCATACCCCCTCCCGTAG 0.562000 11 44 0 0 0.000978 0 0 RBAK 57786 broad.mit.edu 37 7 5105064 5105064 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:5105064C>T ENST00000396912.1 + 5 2496 c.1977C>T c.(1975-1977)gtC>gtT p.V659V RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Silent_p.V659V NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 659 Interaction with AR. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) GTGGGAAAGTCTTTTCTCAGA 0.413000 27 47 0 0 0.006320 0 0 RP1L1 94137 broad.mit.edu 37 8 10467030 10467030 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:10467030C>T ENST00000382483.3 - 4 4801 c.4578G>A c.(4576-4578)acG>acA p.T1526T NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1526 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) AGGCCTTCTCCGTCTTCTTCA 0.662000 12 9 0 0 0.003163 0 0 AGAP1 116987 broad.mit.edu 37 2 236957790 236957790 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:236957790G>A ENST00000409538.1 + 15 3111 c.2615G>A c.(2614-2616)cGa>cAa p.R872Q AGAP1_ENST00000336665.5_Missense_Mutation_p.R607Q|AGAP1_ENST00000428334.2_Missense_Mutation_p.R499Q|AGAP1_ENST00000304032.7_Missense_Mutation_p.R660Q Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 660 protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CACCTTTCCCGAGTCCGATCT 0.572000 24 56 0 0 0.004656 0 0 DYRK3 8444 broad.mit.edu 37 1 206822100 206822100 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:206822100C>T ENST00000367106.1 + 4 1970 c.1497C>T c.(1495-1497)caC>caT p.H499H DYRK3_ENST00000367109.2_Silent_p.H519H|DYRK3_ENST00000367108.3_Silent_p.H499H|DYRK3_ENST00000489878.1_Intron O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 519 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) CATTAAGACACCCTTGGATTA 0.498000 17 27 0 0 0.007413 0 0 EIF3B 8662 broad.mit.edu 37 7 2415157 2415157 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:2415157C>T ENST00000360876.4 + 14 2079 c.2023C>T c.(2023-2025)Cat>Tat p.H675Y EIF3B_ENST00000397011.2_Missense_Mutation_p.H675Y NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 675 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) CTGGTGGAGCCATAAGGTGCA 0.582000 16 36 0 0 0.004990 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140307491 140307491 + Silent SNP C C T rs116016831 byFrequency TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:140307491C>T ENST00000253807.2 + 1 1014 c.1014C>T c.(1012-1014)ccC>ccT p.P338P PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000409700.3_Silent_p.P338P|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron NM_018898.3 NP_061721.2 p.P338P(1) NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCATGCCCCCGAACTGGACT 0.522000 26 23 0 0 0.005443 0 0 KDM8 79831 broad.mit.edu 37 16 27231785 27231785 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:27231785C>T ENST00000286096.4 + 7 1238 c.1065C>T c.(1063-1065)caC>caT p.H355H KDM8_ENST00000568965.1_Intron|KDM8_ENST00000567785.1_3'UTR|KDM8_ENST00000380948.2_Intron|KDM8_ENST00000441782.2_Silent_p.H393H NM_024773.2 NP_079049.2 Q8N371 KDM8_HUMAN lysine (K)-specific demethylase 8 355 JmjC. G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ATGACACGCACCTTCTCCATA 0.592000 34 63 0 0 0.004289 0 0 FSIP2 401024 broad.mit.edu 37 2 186672381 186672381 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:186672381C>T ENST00000343098.5 + 17 18615 c.18615C>T c.(18613-18615)aaC>aaT p.N6205N FSIP2_ENST00000424728.1_Silent_p.N6116N NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TTTCAGAAAACATAGTTGACT 0.393000 22 42 0 0 0.001882 0 0 PARM1 25849 broad.mit.edu 37 4 75971446 75971446 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:75971446G>A ENST00000307428.7 + 4 1134 c.922G>A c.(922-924)Gat>Aat p.D308N PARM1_ENST00000513238.1_Missense_Mutation_p.D66N NM_015393.3 NP_056208.2 Q6UWI2 PARM1_HUMAN prostate androgen-regulated mucin-like protein 1 308 positive regulation of telomerase activity early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 CCCTCTGTACGATGACTCCTA 0.438000 9 16 0 0 0.006214 0 0 CYP3A5 1577 broad.mit.edu 37 7 99264624 99264624 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:99264624C>T ENST00000343703.5 - 6 739 c.353G>A c.(352-354)aGa>aAa p.R118K CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000222982.4_Missense_Mutation_p.R128K cytochrome P450, family 3, subfamily A, polypeptide 5 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) TGACCGTATTCTCTTCCATTC 0.388000 19 30 0 0 0.001882 0 0 SPATA20 64847 broad.mit.edu 37 17 48631790 48631790 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:48631790C>T ENST00000006658.6 + 15 2256 c.2136C>T c.(2134-2136)gcC>gcT p.A712A SPATA20_ENST00000356488.4_Silent_p.A696A|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Silent_p.A652A NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 696 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) CCCTCTCAGCCCAGCAGCAGA 0.647000 21 77 0 0 0.002780 0 0 TP53BP1 7158 broad.mit.edu 37 15 43720298 43720298 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:43720298G>A ENST00000263801.3 - 18 3981 c.3729C>T c.(3727-3729)atC>atT p.I1243I TP53BP1_ENST00000450115.2_Silent_p.I1248I|TP53BP1_ENST00000382044.4_Silent_p.I1248I|TP53BP1_ENST00000382039.3_Silent_p.I1248I NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1243 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GTACTTCCCGGATTGTTCTCA 0.423000 Other conserved DNA damage response genes 37 70 0 0 0.004878 0 0 LRRC30 339291 broad.mit.edu 37 18 7231230 7231230 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:7231230G>A ENST00000383467.2 + 1 108 c.94G>A c.(94-96)Gat>Aat p.D32N NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 32 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 TCCGTGGGACGATGCCCTGCT 0.617000 20 32 0 0 0.001523 0 0 BCL2A1 597 broad.mit.edu 37 15 80263401 80263401 + Missense_Mutation SNP G G T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:80263401G>T ENST00000267953.3 - 1 387 c.61C>A c.(61-63)Cta>Ata p.L21I BCL2A1_ENST00000335661.6_Missense_Mutation_p.L21I NM_004049.3 NP_004040.1 Q16548 B2LA1_HUMAN BCL2-related protein A1 21 anti-apoptosis|apoptosis cytoplasm protein binding endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 12 GGTATCTGTAGGACGCACTGC 0.468000 7 38 2.27111e-07 2.96017e-07 0.001368 1 0 MAN2B2 23324 broad.mit.edu 37 4 6611753 6611753 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:6611753C>T ENST00000285599.3 + 13 2271 c.2235C>T c.(2233-2235)tcC>tcT p.S745S MAN2B2_ENST00000504248.1_Silent_p.S694S|MAN2B2_ENST00000504960.1_3'UTR NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 745 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 CCTACGTTTCCTATGTGAACA 0.557000 5 19 0 0 0.001984 0 0 ANKFN1 162282 broad.mit.edu 37 17 54428197 54428197 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:54428197C>T ENST00000566473.2 + 4 268 c.268C>T c.(268-270)Ccc>Tcc p.P90S ANKFN1_ENST00000318698.2_Missense_Mutation_p.P90S Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 90 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 ACATAGTGCTCCCTCATCTCC 0.433000 17 41 0 0 0.004007 0 0 APOB 338 broad.mit.edu 37 2 21236096 21236096 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:21236096G>A ENST00000233242.1 - 25 4279 c.4152C>T c.(4150-4152)agC>agT p.S1384S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1384 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) GAGCCCGAAGGCTGAAATGGT 0.537000 106 240 0 0 0.003610 0 0 HFE2 148738 broad.mit.edu 37 1 145416753 145416753 + Silent SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:145416753A>G ENST00000336751.5 + 4 1336 c.1098A>G c.(1096-1098)ttA>ttG p.L366L HFE2_ENST00000357836.5_Silent_p.L253L|HFE2_ENST00000497365.1_Silent_p.L140L|HFE2_ENST00000475797.1_Silent_p.L140L NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 366 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) TTGATGTTTTAATTTCTGGTG 0.517000 14 20 0 0 0.002450 0 0 FNDC1 84624 broad.mit.edu 37 6 159653402 159653402 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:159653402C>T ENST00000297267.9 + 11 2058 c.1858C>T c.(1858-1860)Cct>Tct p.P620S FNDC1_ENST00000340366.6_Missense_Mutation_p.P557S NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 620 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) TTCGGCCTCTCCTGCCCACCA 0.672000 9 7 0 0 0.006214 0 0 ACVRL1 94 broad.mit.edu 37 12 52312851 52312851 + Nonsense_Mutation SNP T T A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:52312851T>A ENST00000550683.1 + 8 1472 c.1371T>A c.(1369-1371)tgT>tgA p.C457* ACVRL1_ENST00000419526.2_Nonsense_Mutation_p.C269*|ACVRL1_ENST00000388922.4_Nonsense_Mutation_p.C443* NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 443 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) AGGTGGTGTGTGTGGATCAGC 0.587000 27 28 0 0 0.003954 0 0 NPY1R 4886 broad.mit.edu 37 4 164246624 164246624 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:164246624C>T ENST00000296533.2 - 3 1517 c.986G>A c.(985-987)aGa>aAa p.R329K NPY1R_ENST00000509586.1_Missense_Mutation_p.R86K NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 329 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding p.R329K(1) breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CTGCAAGTCTCTCTGGAAGTT 0.423000 22 42 0 0 0.003330 0 0 USH2A 7399 broad.mit.edu 37 1 216040418 216040418 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:216040418C>T ENST00000366943.2 - 44 9162 c.8776G>A c.(8776-8778)Gag>Aag p.E2926K USH2A_ENST00000307340.3_Missense_Mutation_p.E2926K O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2926 Fibronectin type-III 16. 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) GCTCCTCTCTCTGGAAGACCA 0.463000 HNSCC(13;0.011) 24 32 0 0 0.003330 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73073629 73073629 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:73073629G>A ENST00000263674.3 + 14 5196 c.4846G>A c.(4846-4848)Ggc>Agc p.G1616S NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1616 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 TGCAGGCTCGGGCTTGGAGAT 0.706000 7 19 0 0 0.003080 0 0 GPALPP1 55425 broad.mit.edu 37 13 45594490 45594490 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:45594490C>T ENST00000361121.2 + 7 766 c.731C>T c.(730-732)tCc>tTc p.S244F KIAA1704_ENST00000357537.3_Missense_Mutation_p.S74F|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_Missense_Mutation_p.S244F Q8IXQ4 K1704_HUMAN 244 breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) AGGAAGTCATCCAGTAAGAAA 0.299000 35 54 0 0 0.002222 0 0 HLA-A 3105 broad.mit.edu 37 6 29910668 29910668 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:29910668G>A ENST00000396634.1 + 4 549 c.208G>A c.(208-210)Gag>Aag p.E70K HLA-A_ENST00000376806.5_Missense_Mutation_p.E70K|HLA-A_ENST00000376802.2_Missense_Mutation_p.E70K|HLA-A_ENST00000376809.5_Missense_Mutation_p.E70K P30443 1A01_HUMAN major histocompatibility complex, class I, A 70 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 CCAGAGGATGGAGCCGCGGGC 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 9 7 0 0 0.000673 0 0 AMN1 196394 broad.mit.edu 37 12 31862360 31862360 + Splice_Site SNP C C A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:31862360C>A ENST00000281471.6 - 2 204 c.e2-1 AMN1_ENST00000536761.1_Splice_Site|AMN1_ENST00000541541.1_Splice_Site|AMN1_ENST00000541931.1_Intron|AMN1_ENST00000542781.1_Intron|AMN1_ENST00000537562.1_Splice_Site NM_001113402.1|NM_001278411.1|NM_001278412.1 NP_001106873.1|NP_001265340.1|NP_001265341.1 Q8IY45 AMN1_HUMAN antagonist of mitotic exit network 1 homolog (S. cerevisiae) breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 7 all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162) OV - Ovarian serous cystadenocarcinoma(6;0.0014) CCAAAGGCATCTGAAATACAA 0.353000 7 7 2.0095e-06 2.61562e-06 0.001984 1 0 PCM1 5108 broad.mit.edu 37 8 17883059 17883059 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:17883059C>T ENST00000325083.8 + 38 6380 c.5941C>T c.(5941-5943)Cta>Tta p.L1981L PCM1_ENST00000327578.8_Silent_p.L680L|PCM1_ENST00000519253.1_Silent_p.L1973L|PCM1_ENST00000524226.1_Silent_p.L1817L NM_006197.3 NP_006188.3 Q15154 PCM1_HUMAN pericentriolar material 1 1981 Interaction with BBS4. centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) AAAGGCAGATCTAAGAAAGAA 0.289000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 5 3 0 0 0.000602 0 0 AIFM3 150209 broad.mit.edu 37 22 21332232 21332232 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:21332232C>T ENST00000399167.2 + 16 1655 c.1415C>T c.(1414-1416)cCc>cTc p.P472L AIFM3_ENST00000405089.1_Missense_Mutation_p.P478L|AIFM3_ENST00000440238.2_Missense_Mutation_p.P472L|AIFM3_ENST00000333607.6_Missense_Mutation_p.P472L|AIFM3_ENST00000335375.5_Missense_Mutation_p.P460L|AIFM3_ENST00000399163.2_Missense_Mutation_p.P472L|AIFM3_ENST00000465606.1_3'UTR NM_144704.2 NP_653305.1 apoptosis-inducing factor, mitochondrion-associated, 3 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GTCACCTTCCCCCTTGCCTGG 0.597000 9 14 0 0 0.006214 0 0 DSC2 1824 broad.mit.edu 37 18 28659828 28659828 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:28659828G>A ENST00000280904.6 - 11 2091 c.1648C>T c.(1648-1650)Ctt>Ttt p.L550F DSC2_ENST00000251081.6_Missense_Mutation_p.L550F NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 550 Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TCTGATGCAAGGACTGTAATA 0.378000 21 57 0 0 0.002299 0 0 PRCC 5546 broad.mit.edu 37 1 156752097 156752097 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:156752097C>T ENST00000271526.4 + 2 764 c.492C>T c.(490-492)ccC>ccT p.P164P PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Silent_p.P164P NM_005973.4 NP_005964.3 Q92733 PRCC_HUMAN papillary renal cell carcinoma (translocation-associated) 164 cell cycle|mitotic cell cycle checkpoint nucleus protein binding PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AAGATGAACCCACAAAGAAGA 0.348000 T TFE3 papillary renal 5 29 0 0 0.001984 0 0 FOCAD 54914 broad.mit.edu 37 9 20740333 20740333 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:20740333C>T ENST00000380249.1 + 7 750 c.386C>T c.(385-387)aCc>aTc p.T129I FOCAD_ENST00000338382.6_Missense_Mutation_p.T129I NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 129 integral to membrane binding AGTATATATACCATTAGGTAA 0.284000 22 14 0 0 0.002780 0 0 TEX11 56159 broad.mit.edu 37 X 70073179 70073179 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:70073179C>T ENST00000395889.2 - 7 525 c.e7-1 TEX11_ENST00000374333.2_Splice_Site|TEX11_ENST00000344304.3_Splice_Site NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) TCATATTCATCTAGAAGAGAG 0.348000 8 1 0 0 0.003080 0 0 LGALS12 85329 broad.mit.edu 37 11 63273993 63273993 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:63273993C>T ENST00000255684.5 + 1 438 c.129C>T c.(127-129)ttC>ttT p.F43F LGALS12_ENST00000340246.5_Silent_p.F43F|LGALS12_ENST00000394618.3_Silent_p.F43F NM_001142536.1 NP_001136008.1 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 43 apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 CACCAGTCTTCCACCCGGTGA 0.552000 27 70 0 0 0.003755 0 0 MYO7A 4647 broad.mit.edu 37 11 76910665 76910665 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:76910665G>A ENST00000409709.3 + 35 4926 c.4654G>A c.(4654-4656)Ggg>Agg p.G1552R MYO7A_ENST00000409619.2_Intron|MYO7A_ENST00000458637.2_Intron NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1552 FERM 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GACCCCGGCGGGGCCCTGTTC 0.637000 5 5 0 0 0.000602 0 0 TET1 80312 broad.mit.edu 37 10 70450796 70450796 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:70450796C>T ENST00000373644.4 + 12 5845 c.5636C>T c.(5635-5637)cCc>cTc p.P1879L NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1879 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 AGCAGCACTCCCCACTGTACG 0.582000 21 23 0 0 0.001882 0 0 ACTL6B 51412 broad.mit.edu 37 7 100245114 100245114 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:100245114C>T ENST00000160382.5 - 8 818 c.712G>A c.(712-714)Gag>Aag p.E238K NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 238 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GGTAGCTTCTCCTTCTTCTTC 0.612000 21 50 0 0 0.006320 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52149079 52149079 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:52149079C>T ENST00000360844.6 - 3 697 c.656G>A c.(655-657)gGa>gAa p.G219E SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron NM_001098612.1 NP_001092082.1 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 219 Ig-like C2-type 1. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) CACCTGAGCTCCTTGGCGTTT 0.647000 16 17 0 0 0.002299 0 0 BRINP2 57795 broad.mit.edu 37 1 177226424 177226424 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:177226424G>A ENST00000361539.4 + 4 885 c.573G>A c.(571-573)ctG>ctA p.L191L FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 191 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CTGTGTCCCTGGAGACCCTGC 0.562000 8 31 0 0 0.004482 0 0 NLRP7 199713 broad.mit.edu 37 19 55451794 55451794 + Silent SNP A A T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:55451794A>T ENST00000446217.1 - 6 879 c.477T>A c.(475-477)tcT>tcA p.S159S NLRP7_ENST00000448121.2_Silent_p.S131S|NLRP7_ENST00000592784.1_Silent_p.S131S|NLRP7_ENST00000340844.2_Silent_p.S131S|NLRP7_ENST00000328092.5_Silent_p.S131S|NLRP7_ENST00000590030.1_Silent_p.S131S|NLRP7_ENST00000588756.1_Silent_p.S131S Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 131 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TCCAGACCAAAGACTGTTTCT 0.418000 110 205 0 0 0.003610 0 0 L1CAM 3897 broad.mit.edu 37 X 153134071 153134071 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:153134071G>A ENST00000370060.1 - 13 1680 c.1491C>T c.(1489-1491)tgC>tgT p.C497C L1CAM_ENST00000361981.3_Silent_p.C492C|L1CAM_ENST00000370057.3_Silent_p.C497C|L1CAM_ENST00000543994.1_Silent_p.C499C|L1CAM_ENST00000361699.4_Silent_p.C497C|L1CAM_ENST00000538883.1_Silent_p.C499C|L1CAM_ENST00000370055.1_Silent_p.C492C NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 497 Ig-like C2-type 5. C -> Y (in HSAS). axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGGCAGCCAGGCAGAAGTAGC 0.552000 20 4 0 0 0.001523 0 0 CSMD2 114784 broad.mit.edu 37 1 34035068 34035068 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:34035068G>A ENST00000373381.4 - 52 8213 c.8037C>T c.(8035-8037)atC>atT p.I2679I NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2681 Sushi 17. 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) TGCAGGAGAAGATGGCTGTTG 0.562000 12 35 0 0 0.001368 0 0 AKR1C4 1109 broad.mit.edu 37 10 5242283 5242283 + Missense_Mutation SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:5242283A>G ENST00000380448.1 + 4 477 c.224A>G c.(223-225)aAg>aGg p.K75R AKR1C4_ENST00000263126.1_Missense_Mutation_p.K75R|AKR1CL1_ENST00000445191.1_Intron P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 75 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 18 NADH(DB00157) GGCAGTGTGAAGAGAGAAGAC 0.418000 23 49 0 0 0.003954 0 0 WRN 7486 broad.mit.edu 37 8 30938511 30938511 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:30938511C>T ENST00000298139.5 + 9 1217 c.968C>T c.(967-969)tCa>tTa p.S323L NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 323 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TTTGAAGATTCAACTACTGGG 0.353000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 14 8 0 0 0.002450 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85515612 85515612 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:85515612G>A ENST00000393217.2 + 16 3576 c.3515G>A c.(3514-3516)cGa>cAa p.R1172Q NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1172 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TCTCAGATTCGAGAATTCAAC 0.343000 15 27 0 0 0.006122 0 0 QTRTD1 79691 broad.mit.edu 37 3 113795776 113795776 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:113795776G>A ENST00000281273.4 + 7 990 c.733G>A c.(733-735)Gag>Aag p.E245K QTRTD1_ENST00000485050.1_Missense_Mutation_p.E257K|QTRTD1_ENST00000493014.1_Missense_Mutation_p.E139K|QTRTD1_ENST00000479882.1_Missense_Mutation_p.E122K NM_024638.3 NP_078914.1 Q9H974 QTRD1_HUMAN queuine tRNA-ribosyltransferase domain containing 1 245 queuosine biosynthetic process mitochondrion metal ion binding|queuine tRNA-ribosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2) 10 AGAGCTGCCGGAGGACAAGCC 0.542000 8 21 0 0 0.003080 0 0 WDR4 10785 broad.mit.edu 37 21 44282451 44282451 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr21:44282451G>A ENST00000398208.2 - 5 566 c.507C>T c.(505-507)atC>atT p.I169I WDR4_ENST00000330317.2_Silent_p.I169I|WDR4_ENST00000492742.1_5'UTR NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5 NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2 P57081 WDR4_HUMAN WD repeat domain 4 169 tRNA modification cytoplasm|nucleoplasm protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2) 11 Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244) AGCTGACTCGGATCTTCTCGT 0.602000 8 8 0 0 0.004482 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671360 39671360 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr21:39671360C>T ENST00000398930.1 + 4 531 c.177C>T c.(175-177)atC>atT p.I59I KCNJ15_ENST00000398934.1_Silent_p.I59I|KCNJ15_ENST00000398932.1_Silent_p.I59I|KCNJ15_ENST00000328656.3_Silent_p.I59I|KCNJ15_ENST00000398938.2_Silent_p.I59I Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 59 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 CCACAGTTATCGACATGAAGT 0.483000 18 33 0 0 0.004990 0 0 CNBP 7555 broad.mit.edu 37 3 128889945 128889945 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:128889945G>A ENST00000422453.2 - 4 553 c.393C>T c.(391-393)gaC>gaT p.D131D CNBP_ENST00000502976.1_Silent_p.D124D|CNBP_ENST00000441626.2_Silent_p.D133D|CNBP_ENST00000504813.1_Silent_p.D121D|CNBP_ENST00000451728.2_Silent_p.D132D|CNBP_ENST00000446936.2_Silent_p.D126D|CNBP_ENST00000500450.2_Silent_p.D114D NM_001127192.1|NM_001127193.1|NM_003418.4 NP_001120664.1|NP_001120665.1|NP_003409.1 P62633 CNBP_HUMAN CCHC-type zinc finger, nucleic acid binding protein 131 cholesterol biosynthetic process endoplasmic reticulum DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding biliary_tract(1)|endometrium(1)|kidney(1)|lung(2) 5 CTTTGGTGCAGTCTTTTTGAA 0.433000 19 17 0 0 0.003330 0 0 HIP1 3092 broad.mit.edu 37 7 75221720 75221720 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:75221720G>A ENST00000336926.6 - 3 323 c.297C>T c.(295-297)ttC>ttT p.F99F HIP1_ENST00000434438.2_Silent_p.F99F NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 99 ENTH. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GGAGTTTGTGGAACACATGGC 0.592000 T PDGFRB CMML 7 6 0 0 0.001984 0 0 GPRIN3 285513 broad.mit.edu 37 4 90171112 90171112 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:90171112G>A ENST00000333209.3 - 2 668 c.150C>T c.(148-150)gcC>gcT p.A50A NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 50 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) GTTCTGCAGGGGCACCTGAAA 0.567000 18 41 0 0 0.004990 0 0 DNAH7 56171 broad.mit.edu 37 2 196753008 196753008 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:196753008C>T ENST00000312428.6 - 33 5480 c.5380G>A c.(5380-5382)Gtt>Att p.V1794I NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1794 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATAAATTCAACCGAAACAGGG 0.328000 6 13 0 0 0.003080 0 0 ANK2 287 broad.mit.edu 37 4 114279687 114279687 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:114279687C>T ENST00000357077.4 + 38 9966 c.9913C>T c.(9913-9915)Cct>Tct p.P3305S ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P3272S|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3272 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) ATCCAAAATTCCTGTAAGGAC 0.428000 23 60 0 0 0.006320 0 0 FAM47A 158724 broad.mit.edu 37 X 34148540 34148540 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:34148540C>T ENST00000346193.3 - 1 1907 c.1856G>A c.(1855-1857)gGa>gAa p.G619E NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 619 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TTCATCAGCTCCCAGGTCTCC 0.433000 21 8 0 0 0.003954 0 0 ABAT 18 broad.mit.edu 37 16 8870231 8870231 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:8870231G>A ENST00000396600.2 + 14 2091 c.1153G>A c.(1153-1155)Gac>Aac p.D385N ABAT_ENST00000567812.1_Missense_Mutation_p.D400N|ABAT_ENST00000425191.2_Missense_Mutation_p.D385N|ABAT_ENST00000268251.8_Missense_Mutation_p.D385N|ABAT_ENST00000569156.1_Missense_Mutation_p.D385N NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 385 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) CTGGCTGGGGGACCCGTCCAA 0.582000 27 26 0 0 0.001512 0 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31851278 31851278 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:31851278G>A ENST00000397525.1 - 9 1346 c.1123C>T c.(1123-1125)Cct>Tct p.P375S EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.P54S|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.P212S|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.P375S|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.P375S NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 375 nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TTCTGTCCAGGAGAGAGGATG 0.383000 10 29 0 0 0.001855 0 0 CTSE 1510 broad.mit.edu 37 1 206331217 206331217 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:206331217G>A ENST00000360218.2 + 8 1185 c.1081G>A c.(1081-1083)Gac>Aac p.D361N CTSE_ENST00000361052.3_3'UTR|CTSE_ENST00000358184.2_3'UTR|CTSE_ENST00000432969.2_Missense_Mutation_p.D286N NM_148964.2 NP_683865.1 P14091 CATE_HUMAN cathepsin E 0 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3) 16 BRCA - Breast invasive adenocarcinoma(75;0.0754) CTGCCTGTCTGACAGACCTTG 0.478000 32 52 0 0 0.002096 0 0 JPH1 56704 broad.mit.edu 37 8 75227679 75227679 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:75227679G>A ENST00000342232.4 - 2 596 c.556C>T c.(556-558)Ccg>Tcg p.P186S NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 186 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) GTGCCGGCCGGGCTGTCGGCG 0.701000 4 24 0 0 0.000248 0 0 TECTB 6975 broad.mit.edu 37 10 114044382 114044382 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:114044382G>A ENST00000369422.3 + 2 166 c.166G>A c.(166-168)Gga>Aga p.G56R NM_058222.1 NP_478129.1 Q96PL2 TECTB_HUMAN tectorin beta 56 ZP. anchored to membrane|plasma membrane|proteinaceous extracellular matrix kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.198) Epithelial(162;0.0143)|all cancers(201;0.0242) GCTGGCCCTCGGAGGGCTGTG 0.468000 15 25 0 0 0.003163 0 0 ELK4 2005 broad.mit.edu 37 1 205589704 205589704 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:205589704G>A ENST00000357992.4 - 3 809 c.470C>T c.(469-471)tCc>tTc p.S157F ELK4_ENST00000289703.4_Missense_Mutation_p.S157F NM_001973.3 NP_001964.2 ELK4, ETS-domain protein (SRF accessory protein 1) SLC45A3/ELK4(18) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 12 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) TACATTGGAGGAGTTCAAAGA 0.433000 T SLC45A3 prostate 21 33 0 0 0.002780 0 0 COL22A1 169044 broad.mit.edu 37 8 139715590 139715590 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:139715590C>T ENST00000303045.6 - 31 2964 c.2517_splice c.e31-1 p.G840_splice COL22A1_ENST00000435777.1_Splice_Site_p.G840_splice|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 840 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCAGCTTCACCCTAGATGGAG 0.458000 HNSCC(7;0.00092) 14 46 0 0 0.003163 0 0 COL6A2 1292 broad.mit.edu 37 21 47545180 47545180 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr21:47545180G>A ENST00000300527.4 + 24 1875 c.1770_splice c.e24-1 p.E591_splice COL6A2_ENST00000409416.1_Splice_Site_p.E591_splice|COL6A2_ENST00000357838.4_Splice_Site_p.E591_splice|COL6A2_ENST00000397763.1_Splice_Site_p.E591_splice|COL6A2_ENST00000310645.5_Splice_Site_p.E591_splice NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 591 Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) TGCATTGCAGGAGTGTGACGT 0.687000 30 43 0 0 0.001951 0 0 LRP1B 53353 broad.mit.edu 37 2 141032011 141032011 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:141032011C>T ENST00000389484.3 - 85 14095 c.13124G>A c.(13123-13125)aGt>aAt p.S4375N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4375 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) TATATCTTCACTGTCTTTATT 0.383000 TSP Lung(27;0.18) 10 24 0 0 0.000978 0 0 PCDH15 65217 broad.mit.edu 37 10 55839163 55839163 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:55839163C>T ENST00000373965.2 - 18 2434 c.2040G>A c.(2038-2040)ggG>ggA p.G680G PCDH15_ENST00000373957.3_Silent_p.G651G|PCDH15_ENST00000395438.1_Silent_p.G673G|PCDH15_ENST00000414778.1_Silent_p.G678G|PCDH15_ENST00000395432.2_Silent_p.G636G|PCDH15_ENST00000437009.1_Silent_p.G602G|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Silent_p.G284G|PCDH15_ENST00000395433.1_Silent_p.G651G|PCDH15_ENST00000395445.1_Silent_p.G680G|PCDH15_ENST00000373955.1_Silent_p.G673G|PCDH15_ENST00000395430.1_Silent_p.G673G|PCDH15_ENST00000320301.6_Silent_p.G673G|PCDH15_ENST00000361849.3_Silent_p.G673G|PCDH15_ENST00000395446.1_Silent_p.G673G|PCDH15_ENST00000395442.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 673 Cadherin 6. 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) CCAGTGCTTTCCCTAAGGTTA 0.428000 HNSCC(58;0.16) 63 131 0 0 0.003610 0 0 FAM71D 161142 broad.mit.edu 37 14 67664893 67664893 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:67664893C>T ENST00000556046.1 + 3 239 c.15C>T c.(13-15)acC>acT p.T5T Q8N9W8 FA71D_HUMAN family with sequence similarity 71, member D 5 breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1) 13 all_hematologic(31;0.0116) all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012) AGAAGAACACCAGCAAGACTA 0.393000 15 20 0 0 0.004007 0 0 TMEM59L 25789 broad.mit.edu 37 19 18729300 18729300 + Nonsense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:18729300C>T ENST00000600490.1 + 8 1083 c.898C>T c.(898-900)Cag>Tag p.Q300* TMEM59L_ENST00000262817.3_Nonsense_Mutation_p.Q300* Q9UK28 TM59L_HUMAN transmembrane protein 59-like 300 Golgi membrane|integral to membrane|membrane fraction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2) 13 CCTCAAGTTCCAGGTGGGTGG 0.642000 3 3 0 0 0.004672 0 0 STEAP4 79689 broad.mit.edu 37 7 87912231 87912231 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:87912231G>A ENST00000380079.4 - 3 810 c.709C>T c.(709-711)Cgt>Tgt p.R237C AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Intron|STEAP4_ENST00000414498.1_Missense_Mutation_p.R237C NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 237 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) ATAGCCATACGAAATGTATTA 0.363000 16 36 0 0 0.006122 0 0 PSD4 23550 broad.mit.edu 37 2 113950646 113950646 + Silent SNP G G T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:113950646G>T ENST00000245796.6 + 7 2055 c.1860G>T c.(1858-1860)gtG>gtT p.V620V PSD4_ENST00000441564.2_Silent_p.V592V NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 620 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCAGGGCTGTGGCTGAGGAGT 0.627000 7 27 0.000157383 0.000204161 0.003080 1 0 GABRP 2568 broad.mit.edu 37 5 170215659 170215659 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:170215659C>T ENST00000518525.1 + 3 504 c.40C>T c.(40-42)Ctc>Ttc p.L14F GABRP_ENST00000265294.4_Missense_Mutation_p.L14F|GABRP_ENST00000519598.1_Missense_Mutation_p.L14F|GABRP_ENST00000519385.1_Missense_Mutation_p.L14F O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 14 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GTGTCTGAGTCTCTTCACTGA 0.557000 18 19 0 0 0.001882 0 0 NOTCH1 4851 broad.mit.edu 37 9 139413214 139413214 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:139413214C>T ENST00000277541.6 - 6 1003 c.928G>A c.(928-930)Ggg>Agg p.G310R NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 310 EGF-like 8; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.G310R(2) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TGGCAGGTCCCGCCGTTCTGG 0.627000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 14 16 0 0 0.001855 0 0 NCOA5 57727 broad.mit.edu 37 20 44692186 44692186 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:44692186G>A ENST00000290231.6 - 7 1127 c.963C>T c.(961-963)atC>atT p.I321I NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 321 regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) TTTCCTGCAGGATGGCTTCAT 0.582000 17 26 0 0 0.004990 0 0 SLX4 84464 broad.mit.edu 37 16 3641088 3641088 + Missense_Mutation SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:3641088T>C ENST00000294008.3 - 12 3191 c.2551A>G c.(2551-2553)Atg>Gtg p.M851V NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 851 Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 ATTTCTTCCATTTCTGCTTCA 0.502000 Direct reversal of damage 30 51 0 0 0.006320 0 0 UBASH3A 53347 broad.mit.edu 37 21 43864686 43864686 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr21:43864686C>T ENST00000319294.6 + 14 1812 c.1781C>T c.(1780-1782)tCc>tTc p.S594F UBASH3A_ENST00000398367.1_Intron|UBASH3A_ENST00000291535.6_Missense_Mutation_p.S556F NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 594 Phosphatase-like. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 ACTCTGGACTCCTGCACGCGG 0.577000 37 120 0 0 0.006999 0 0 SYT16 83851 broad.mit.edu 37 14 62462984 62462984 + Missense_Mutation SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:62462984T>C ENST00000430451.2 + 1 444 c.247T>C c.(247-249)Tcc>Ccc p.S83P SYT16_ENST00000446982.2_Missense_Mutation_p.S83P NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 83 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GGATGCAAATTCCTTGTTTCT 0.393000 21 76 0 0 0.001882 0 0 KIAA2018 205717 broad.mit.edu 37 3 113375371 113375371 + Missense_Mutation SNP G G C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:113375371G>C ENST00000316407.4 - 7 5568 c.5158C>G c.(5158-5160)Cgt>Ggt p.R1720G KIAA2018_ENST00000478658.1_Missense_Mutation_p.R1720G|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1720 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TGGTCCACACGACCCTGCATA 0.423000 19 35 0 0 0.007413 0 0 TLL1 7092 broad.mit.edu 37 4 166963230 166963230 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:166963230G>A ENST00000061240.2 + 11 1960 c.1313G>A c.(1312-1314)aGa>aAa p.R438K TLL1_ENST00000507499.1_Missense_Mutation_p.R438K NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 438 CUB 1. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding p.S437_R438delSR(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) ACAGACAGCAGAATGTGGATT 0.368000 12 56 0 0 0.004007 0 0 NRAP 4892 broad.mit.edu 37 10 115350452 115350452 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:115350452C>T ENST00000369358.4 - 40 5109 c.4865G>A c.(4864-4866)aGg>aAg p.R1622K NRAP_ENST00000359988.3_Missense_Mutation_p.R1614K|NRAP_ENST00000360478.3_Missense_Mutation_p.R1579K|NRAP_ENST00000369360.3_Missense_Mutation_p.R1587K Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1614 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CTGCTGGCTCCTCTTGGCCTG 0.632000 20 68 0 0 0.001216 0 0 TRRAP 8295 broad.mit.edu 37 7 98592250 98592250 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:98592250C>T ENST00000359863.4 + 66 10255 c.10046C>T c.(10045-10047)tCc>tTc p.S3349F TRRAP_ENST00000355540.3_Missense_Mutation_p.S3320F|TRRAP_ENST00000446306.3_Missense_Mutation_p.S3338F NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3349 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AAATGTTACTCCGTGGCGTTT 0.537000 40 88 0 0 0.002222 0 0 P4HA1 5033 broad.mit.edu 37 10 74806805 74806805 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:74806805G>A ENST00000412021.2 - 9 1288 c.955C>T c.(955-957)Cct>Tct p.P319S P4HA1_ENST00000440381.1_Missense_Mutation_p.P319S|P4HA1_ENST00000263556.3_Missense_Mutation_p.P319S|P4HA1_ENST00000373008.2_Missense_Mutation_p.P319S|P4HA1_ENST00000394890.2_Missense_Mutation_p.P319S|P4HA1_ENST00000307116.2_Missense_Mutation_p.P319S NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 319 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) ATAAATTTAGGATTACGGTTT 0.358000 20 32 0 0 0.001882 0 0 EML3 256364 broad.mit.edu 37 11 62378444 62378444 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:62378444G>A ENST00000394773.2 - 4 780 c.473C>T c.(472-474)tCc>tTc p.S158F EML3_ENST00000278845.4_Missense_Mutation_p.S159F|EML3_ENST00000494176.2_Missense_Mutation_p.S130F|EML3_ENST00000531557.1_5'UTR|EML3_ENST00000529309.1_Missense_Mutation_p.S158F NM_153265.2 NP_694997.2 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 158 Poly-Ser. cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GGATGAGGAGGAGGAAGAATT 0.612000 10 17 0 0 0.000673 0 0 ACPT 93650 broad.mit.edu 37 19 51297146 51297146 + Splice_Site SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:51297146G>A ENST00000270593.1 + 8 780 c.778_splice c.e8-1 p.G260_splice ACPT_ENST00000270594.3_Splice_Site_p.G167_splice NM_033068.2 NP_149059.1 Q9BZG2 PPAT_HUMAN acid phosphatase, testicular 260 integral to membrane acid phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3) 11 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CATCCTCAGGGATCCTGCTGA 0.592000 46 83 0 0 0.003610 0 0 HAO2 51179 broad.mit.edu 37 1 119925619 119925619 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:119925619C>T ENST00000361035.4 + 4 535 c.252C>T c.(250-252)gcC>gcT p.A84A HAO2_ENST00000325945.3_Silent_p.A71A NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 71 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) AGATCAGTGCCCCTATTTGTA 0.557000 17 28 0 0 0.004990 0 0 DPY19L4 286148 broad.mit.edu 37 8 95802125 95802125 + Missense_Mutation SNP C C T rs140198354 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:95802125C>T ENST00000414645.2 + 19 2258 c.2159C>T c.(2158-2160)tCc>tTc p.S720F NM_181787.2 NP_861452.2 Q7Z388 D19L4_HUMAN dpy-19-like 4 (C. elegans) 720 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) ACTGTGATATCCTTCCAGTCT 0.343000 87 181 0 0 0.003610 0 0 ME1 4199 broad.mit.edu 37 6 84025120 84025120 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:84025120C>T ENST00000369705.3 - 6 729 c.613G>A c.(613-615)Gat>Aat p.D205N ME1_ENST00000541327.1_Missense_Mutation_p.D39N|ME1_ENST00000543031.1_Missense_Mutation_p.D130N NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 205 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) TAGAGTGGATCTTTAAGTAAC 0.333000 23 14 0 0 0.003330 0 0 BDP1 55814 broad.mit.edu 37 5 70828250 70828250 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:70828250C>T ENST00000358731.4 + 26 6151 c.5888C>T c.(5887-5889)cCg>cTg p.P1963L BDP1_ENST00000380675.2_Missense_Mutation_p.P100L NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 1963 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) TTGAGTGTACCGTTTGTAAGC 0.343000 8 13 0 0 0.004482 0 0 MTERFD2 130916 broad.mit.edu 37 2 242039099 242039099 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:242039099G>A ENST00000391980.2 - 2 290 c.232C>T c.(232-234)Ctt>Ttt p.L78F MTERFD2_ENST00000407095.3_Missense_Mutation_p.L78F|MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000495694.1_Missense_Mutation_p.L78F NM_182501.3 NP_872307.2 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 78 endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3) 20 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) TGCTTCTCAAGGAGGCACTGA 0.493000 30 38 0 0 0.001512 0 0 TBXAS1 6916 broad.mit.edu 37 7 139529266 139529266 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:139529266C>T ENST00000263552.6 + 5 618 c.80C>T c.(79-81)gCc>gTc p.A27V TBXAS1_ENST00000448866.1_Missense_Mutation_p.A26V|TBXAS1_ENST00000458722.1_Missense_Mutation_p.A26V|TBXAS1_ENST00000336425.5_Missense_Mutation_p.A26V|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000416849.2_Missense_Mutation_p.A27V|TBXAS1_ENST00000539806.1_Missense_Mutation_p.A27V|TBXAS1_ENST00000436047.2_Missense_Mutation_p.A27V|TBXAS1_ENST00000425687.1_Intron|TBXAS1_ENST00000414508.2_Missense_Mutation_p.A27V|TBXAS1_ENST00000455353.1_Missense_Mutation_p.A26V|TBXAS1_ENST00000411653.1_Missense_Mutation_p.A26V NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 26 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) GCTCTCTTGGCCCTCCTGAAA 0.587000 7 15 0 0 0.003080 0 0 SYBU 55638 broad.mit.edu 37 8 110598373 110598373 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:110598373C>T ENST00000399066.3 - 3 1164 c.437G>A c.(436-438)aGc>aAc p.S146N SYBU_ENST00000533895.1_Missense_Mutation_p.S148N|SYBU_ENST00000419099.1_Missense_Mutation_p.S148N|SYBU_ENST00000533065.1_Missense_Mutation_p.S30N|SYBU_ENST00000528331.1_Missense_Mutation_p.S30N|SYBU_ENST00000532779.1_Missense_Mutation_p.S81N|SYBU_ENST00000440310.1_Missense_Mutation_p.S149N|SYBU_ENST00000408908.2_Missense_Mutation_p.S149N|SYBU_ENST00000424158.2_Missense_Mutation_p.S154N|SYBU_ENST00000408889.3_Missense_Mutation_p.S30N|SYBU_ENST00000433638.1_Missense_Mutation_p.S149N|SYBU_ENST00000528647.1_Missense_Mutation_p.S148N|SYBU_ENST00000446070.2_Missense_Mutation_p.S148N|SYBU_ENST00000422135.1_Missense_Mutation_p.S149N|SYBU_ENST00000276646.9_Missense_Mutation_p.S149N|SYBU_ENST00000529690.1_Missense_Mutation_p.S19N|SYBU_ENST00000533171.1_Missense_Mutation_p.S149N NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 149 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 GCTCGAGGAGCTAAAATCAGC 0.532000 9 7 0 0 0.006214 0 0 RTN2 6253 broad.mit.edu 37 19 45996558 45996558 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:45996558G>A ENST00000590526.1 - 5 1197 c.71C>T c.(70-72)cCt>cTt p.P24L RTN2_ENST00000245923.4_Missense_Mutation_p.P298L|RTN2_ENST00000344680.4_Intron|PPM1N_ENST00000401705.1_Intron O75298 RTN2_HUMAN reticulon 2 298 integral to endoplasmic reticulum membrane signal transducer activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1) 20 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) TGTCCACAGAGGTGGGGACAA 0.522000 23 33 0 0 0.002299 0 0 EPX 8288 broad.mit.edu 37 17 56271413 56271413 + Nonsense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:56271413G>A ENST00000225371.5 + 5 664 c.554G>A c.(553-555)tGg>tAg p.W185* NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 185 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 CCCTTCGGCTGGACCCCCAGC 0.612000 14 23 0 0 0.002450 0 0 DLGAP5 9787 broad.mit.edu 37 14 55647412 55647412 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:55647412G>A ENST00000247191.2 - 6 881 c.665C>T c.(664-666)tCt>tTt p.S222F DLGAP5_ENST00000395425.2_Missense_Mutation_p.S222F NM_014750.4 NP_055565.3 Q15398 DLGP5_HUMAN discs, large (Drosophila) homolog-associated protein 5 222 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 TGCTGTGGTAGATGAGACTGT 0.448000 22 84 0 0 0.003954 0 0 PADI1 29943 broad.mit.edu 37 1 17531800 17531800 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:17531800C>T ENST00000375471.4 + 1 180 c.88C>T c.(88-90)Cac>Tac p.H30Y NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 30 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) TGTGGACATTCACAGGTAAGA 0.577000 4 19 0 0 0.000602 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84606346 84606346 + Silent SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:84606346T>C ENST00000344803.2 + 4 1008 c.961T>C c.(961-963)Ttg>Ctg p.L321L NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 TCTCACCATCTTGAAGACTTT 0.478000 41 111 0 0 0.006999 0 0 RYR3 6263 broad.mit.edu 37 15 33831581 33831581 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:33831581C>T ENST00000389232.4 + 6 534 c.464C>T c.(463-465)gCt>gTt p.A155V RYR3_ENST00000415757.3_Missense_Mutation_p.A155V NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 155 MIR 1. 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) ATACATCCTGCTTCCAAACAG 0.458000 7 5 0 0 0.004482 0 0 MSH4 4438 broad.mit.edu 37 1 76262711 76262711 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:76262711C>T ENST00000263187.3 + 1 145 c.41C>T c.(40-42)cCg>cTg p.P14L NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 14 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 CCTTCTGCCCCGGCGGTTTCC 0.617000 Mismatch excision repair (MMR) 13 15 0 0 0.001855 0 0 SEMA5B 54437 broad.mit.edu 37 3 122645474 122645474 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:122645474G>A ENST00000195173.4 - 9 1204 c.901C>T c.(901-903)Ctg>Ttg p.L301L SEMA5B_ENST00000357599.3_Silent_p.L301L|SEMA5B_ENST00000451055.2_Silent_p.L355L Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 301 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) TTCTCCCGCAGGAAGAAGTAT 0.607000 4 12 0 0 0.000248 0 0 CYP2C8 1558 broad.mit.edu 37 10 96802811 96802811 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:96802811G>A ENST00000371270.3 - 7 1079 c.985C>T c.(985-987)Cat>Tat p.H329Y CYP2C8_ENST00000539050.1_Missense_Mutation_p.H243Y|CYP2C8_ENST00000535898.1_Missense_Mutation_p.H227Y NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 329 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) CCAATTACATGATCAATCTCT 0.443000 9 34 0 0 0.000673 0 0 FAM102A 399665 broad.mit.edu 37 9 130710456 130710456 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:130710456G>A ENST00000373095.1 - 6 885 c.510C>T c.(508-510)tcC>tcT p.S170S FAM102A_ENST00000373084.4_Silent_p.S28S|FAM102A_ENST00000300434.3_Intron NM_001035254.2 NP_001030331.1 Q5T9C2 F102A_HUMAN family with sequence similarity 102, member A 170 Ser-rich. breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4) 10 TCAGCTGCAGGGAGGAATCCT 0.622000 12 29 0 0 0.002450 0 0 MCHR1 2847 broad.mit.edu 37 22 41077071 41077071 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:41077071G>A ENST00000249016.4 + 2 1104 c.408G>A c.(406-408)aaG>aaA p.K136K MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Silent_p.K136K NM_005297.3 NP_005288.3 Q99705 MCHR1_HUMAN melanin-concentrating hormone receptor 1 136 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 CGGTCGTGAAGAAGTCCAAGC 0.542000 23 41 0 0 0.003330 0 0 MS4A10 341116 broad.mit.edu 37 11 60559780 60559780 + Missense_Mutation SNP T T A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:60559780T>A ENST00000308287.1 + 4 442 c.346T>A c.(346-348)Tct>Act p.S116T NM_206893.3 NP_996776.2 Q96PG2 M4A10_HUMAN membrane-spanning 4-domains, subfamily A, member 10 116 integral to membrane receptor activity endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2) 21 GAAGACCTTTTCTAAAACTTA 0.443000 29 81 0 0 0.005524 0 0 PHLPP2 23035 broad.mit.edu 37 16 71683204 71683204 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:71683204C>T ENST00000393524.2 - 17 4093 c.3360G>A c.(3358-3360)gaG>gaA p.E1120E PHLPP2_ENST00000567016.1_Silent_p.E1222E|PHLPP2_ENST00000568954.1_Silent_p.E1187E|PHLPP2_ENST00000356272.3_Silent_p.E1187E|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000540628.1_Intron Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 1187 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 TAGGAGAACTCTCTATGAGAG 0.532000 20 35 0 0 0.001523 0 0 STAG3 10734 broad.mit.edu 37 7 99799849 99799849 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:99799849G>A ENST00000426455.1 + 24 2856 c.2449G>A c.(2449-2451)Ggg>Agg p.G817R GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.G817R|STAG3_ENST00000394018.2_Missense_Mutation_p.G759R|STAG3_ENST00000440830.1_3'UTR Q9UJ98 STAG3_HUMAN stromal antigen 3 817 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GATGATTGTTGGGGGCCGTGA 0.468000 37 68 0 0 0.006999 0 0 EPPK1 83481 broad.mit.edu 37 8 144945157 144945157 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:144945157C>T ENST00000525985.1 - 2 2336 c.2265G>A c.(2263-2265)ttG>ttA p.L755L P58107 EPIPL_HUMAN epiplakin 1 755 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCAACAGGATCAAGTTCAGCA 0.637000 26 99 0 0 0.001786 0 0 FRG1B 284802 broad.mit.edu 37 20 29623221 29623221 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:29623221G>A ENST00000278882.3 + 3 413 c.33G>A c.(31-33)atG>atA p.M11I FRG1B_ENST00000439954.2_Missense_Mutation_p.G13S|FRG1B_ENST00000358464.4_Missense_Mutation_p.M11I endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTCGACAATGGTCTTTTTAC 0.413000 13 442 0 0 0.001368 0 0 FNDC3B 64778 broad.mit.edu 37 3 172048393 172048393 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:172048393C>T ENST00000336824.4 + 13 1541 c.1442C>T c.(1441-1443)cCa>cTa p.P481L FNDC3B_ENST00000415807.2_Missense_Mutation_p.P481L|FNDC3B_ENST00000416957.1_Missense_Mutation_p.P481L NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 481 Fibronectin type-III 3. P -> L (in Ref. 2; AAQ88513). endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) CCTTCTGCACCAAGGCTGGTT 0.493000 11 33 0 0 0.000978 0 0 COL6A3 1293 broad.mit.edu 37 2 238290009 238290009 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:238290009G>A ENST00000295550.4 - 5 1898 c.1446C>T c.(1444-1446)atC>atT p.I482I COL6A3_ENST00000409809.1_Silent_p.I276I|COL6A3_ENST00000392003.2_Silent_p.I75I|COL6A3_ENST00000347401.3_Silent_p.I281I|COL6A3_ENST00000472056.1_Silent_p.I75I|COL6A3_ENST00000353578.4_Silent_p.I276I|COL6A3_ENST00000346358.4_Silent_p.I482I|COL6A3_ENST00000392004.3_Silent_p.I276I NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 482 Nonhelical region.|VWFA 3. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTGCCACCTGGATAAGATCCT 0.488000 17 37 0 0 0.004990 0 0 EIF4B 1975 broad.mit.edu 37 12 53427604 53427604 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:53427604C>T ENST00000262056.9 + 9 1320 c.994C>T c.(994-996)Ccc>Tcc p.P332S EIF4B_ENST00000420463.3_Missense_Mutation_p.P332S|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.P293S NM_001417.4 NP_001408.2 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 332 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 CCCCCAAAGACCCAAACTGAA 0.438000 17 36 0 0 0.001523 0 0 F5 2153 broad.mit.edu 37 1 169555578 169555578 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:169555578G>A ENST00000367796.3 - 1 248 c.47C>T c.(46-48)aCc>aTc p.T16I F5_ENST00000367797.3_Missense_Mutation_p.T16I|F5_ENST00000546081.1_5'UTR P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 16 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) TACCCAGCTGGTGCCCAAGAC 0.652000 9 21 0 0 0.000978 0 0 CYP46A1 10858 broad.mit.edu 37 14 100182481 100182481 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:100182481G>A ENST00000554176.1 + 4 1059 c.393G>A c.(391-393)gaG>gaA p.E131E CYP46A1_ENST00000261835.3_Silent_p.E284E|CYP46A1_ENST00000423126.2_Silent_p.E187E Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46, subfamily A, polypeptide 1 284 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1) 25 Melanoma(154;0.0866)|all_epithelial(191;0.179) CAGCTGAAGAGGGAGCCCAGG 0.512000 10 9 0 0 0.002450 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885999 88885999 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:88885999G>A ENST00000319675.3 - 1 297 c.201C>T c.(199-201)tcC>tcT p.S67S NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 67 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 TTGCCAAAGAGGAGGGATCCC 0.517000 14 38 0 0 0.004007 0 0 CENPT 80152 broad.mit.edu 37 16 67865213 67865213 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:67865213C>T ENST00000562787.1 - 10 1157 c.609G>A c.(607-609)caG>caA p.Q203Q CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000219172.3_Silent_p.Q203Q|CENPT_ENST00000564817.1_Silent_p.Q203Q|CENPT_ENST00000440851.2_Silent_p.Q203Q|CENPT_ENST00000445712.2_Silent_p.Q100Q NM_025082.3 NP_079358.3 Q96BT3 CENPT_HUMAN centromere protein T 203 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding NS(1)|breast(2)|lung(6)|urinary_tract(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) AGCCAGGCCTCTGCACTGACT 0.597000 7 22 0 0 0.004482 0 0 RIC3 79608 broad.mit.edu 37 11 8132470 8132470 + Silent SNP C C G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:8132470C>G ENST00000396677.2 - 3 398 c.399G>C c.(397-399)tcG>tcC p.S133S RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Silent_p.S246S|RIC3_ENST00000425599.2_Silent_p.S214S|RIC3_ENST00000335425.7_Silent_p.S113S|RIC3_ENST00000309737.6_Silent_p.S295S|RIC3_ENST00000343202.4_Silent_p.S294S Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 295 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) TTGGATCACACGAGGTAACAG 0.473000 33 30 0 0 0.002836 0 0 ZNF470 388566 broad.mit.edu 37 19 57089815 57089815 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:57089815G>A ENST00000330619.8 + 6 2704 c.2018G>A c.(2017-2019)gGa>gAa p.G673E ZNF470_ENST00000391709.3_Missense_Mutation_p.G673E|ZNF470_ENST00000601902.1_Intron NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 673 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) ATTCATACTGGAGAAAGGCCC 0.423000 10 31 0 0 0.000978 0 0 SLC5A7 60482 broad.mit.edu 37 2 108627290 108627290 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:108627290G>A ENST00000264047.2 + 9 1992 c.1716G>A c.(1714-1716)ggG>ggA p.G572G SLC5A7_ENST00000540517.1_Silent_p.G467G|SLC5A7_ENST00000409059.1_Silent_p.G572G NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 572 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) GTCCAGAAGGGTCTGGGACTG 0.433000 8 14 0 0 0.004482 0 0 ADAMTSL2 9719 broad.mit.edu 37 9 136401786 136401786 + Nonsense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:136401786G>A ENST00000393061.3 + 2 711 c.279G>A c.(277-279)tgG>tgA p.W93* ADAMTSL2_ENST00000354484.4_5'UTR|ADAMTSL2_ENST00000393060.1_5'UTR Q86TH1 ATL2_HUMAN ADAMTS-like 2 499 TSP type-1 1. negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) TGGTCATCTGGAAGAGGATCG 0.602000 13 21 0 0 0.001855 0 0 PEX5L 51555 broad.mit.edu 37 3 179525587 179525587 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:179525587G>A ENST00000467460.1 - 14 1881 c.1551C>T c.(1549-1551)acC>acT p.T517T PEX5L_ENST00000392649.3_Silent_p.T409T|PEX5L_ENST00000476138.1_Silent_p.T474T|PEX5L_ENST00000468741.1_Silent_p.T325T|PEX5L_ENST00000472994.1_Silent_p.T458T|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000464614.1_Silent_p.T409T|PEX5L_ENST00000485199.1_Silent_p.T482T|PEX5L_ENST00000263962.8_Silent_p.T515T|PEX5L_ENST00000465751.1_Silent_p.T493T NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 517 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) CGTTCGCCAAGGTCGCCCCGA 0.512000 39 74 0 0 0.002222 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130341230 130341230 + Missense_Mutation SNP G G T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:130341230G>T ENST00000299164.2 + 7 2030 c.2030G>T c.(2029-2031)gGa>gTa p.G677V NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 677 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GTGTGTGGGGGAGACAATAAG 0.572000 12 24 4.14922e-12 5.42285e-12 0.004007 1 0 SPARCL1 8404 broad.mit.edu 37 4 88411474 88411474 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:88411474C>T ENST00000418378.1 - 8 2053 c.1482G>A c.(1480-1482)ggG>ggA p.G494G SPARCL1_ENST00000282470.6_Silent_p.G494G|SPARCL1_ENST00000503414.1_Silent_p.G369G NM_001128310.1 NP_001121782.1 Q14515 SPRL1_HUMAN SPARC-like 1 (hevin) 494 Kazal-like. signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2) 21 OV - Ovarian serous cystadenocarcinoma(123;0.00118) CCTTTTTGGTCCCCTCCAGTC 0.458000 85 173 0 0 0.003610 0 0 WDR90 197335 broad.mit.edu 37 16 708548 708548 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:708548C>T ENST00000549091.1 + 23 2882 c.2790C>T c.(2788-2790)ccC>ccT p.P930P WDR90_ENST00000293879.4_Silent_p.P930P NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 930 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) ACCCTGAGCCCTGCCCCTCCT 0.662000 14 29 0 0 0.001216 0 0 OGT 8473 broad.mit.edu 37 X 70781708 70781708 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:70781708C>T ENST00000373719.3 + 15 2152 c.1935C>T c.(1933-1935)ggC>ggT p.G645G OGT_ENST00000373701.3_Silent_p.G635G NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 645 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) ATACTAAGGGCGCTCGAAATG 0.383000 15 7 0 0 0.004990 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38133953 38133953 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:38133953C>T ENST00000317025.8 - 23 4450 c.3933G>A c.(3931-3933)aaG>aaA p.K1311K WHSC1L1_ENST00000433384.2_Silent_p.K1262K|RP11-513D5.5_ENST00000529325.1_RNA|WHSC1L1_ENST00000527502.1_Silent_p.K1300K NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 1311 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) CTGTTTTGATCTTTCGTCTCT 0.403000 T NUP98 AML 8 3 0 0 0.004482 0 0 FAM160B2 64760 broad.mit.edu 37 8 21957256 21957256 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:21957256C>T ENST00000289921.7 + 10 1239 c.1193C>T c.(1192-1194)gCc>gTc p.A398V NM_022749.5 NP_073586.5 Q86V87 F16B2_HUMAN family with sequence similarity 160, member B2 398 endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1) 9 CTCCTCACAGCCATGCTGCGC 0.682000 5 8 0 0 0.000602 0 0 AKR1B1 231 broad.mit.edu 37 7 134134532 134134532 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:134134532G>A ENST00000285930.4 - 4 448 c.369C>T c.(367-369)ttC>ttT p.F123F AKR1B1_ENST00000489022.1_5'UTR NM_001628.2 NP_001619.1 P15121 ALDR_HUMAN aldo-keto reductase family 1, member B1 (aldose reductase) 123 C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2) 14 NADH(DB00157)|Sulindac(DB00605) CATCCAATGGGAAAAATTCCT 0.468000 42 81 0 0 0.003610 0 0 XKR4 114786 broad.mit.edu 37 8 56436480 56436480 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:56436480C>T ENST00000327381.5 + 3 1747 c.1647C>T c.(1645-1647)atC>atT p.I549I NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 549 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) TACGGTCCATCTCCAACAACC 0.592000 15 48 0 0 0.004990 0 0 ZNF518A 9849 broad.mit.edu 37 10 97916114 97916114 + RNA SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:97916114A>G ENST00000534948.1 + 0 892 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) TTTTGTGATGAAAAACAAACT 0.289000 17 38 0 0 0.006122 0 0 FAT4 79633 broad.mit.edu 37 4 126369957 126369957 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:126369957G>A ENST00000394329.3 + 9 7799 c.7786G>A c.(7786-7788)Gga>Aga p.G2596R FAT4_ENST00000335110.5_Missense_Mutation_p.G894R NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2596 Cadherin 25. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTCTTTAAGAGGAGAACCTAT 0.423000 4 13 0 0 0.000248 0 0 RGS3 5998 broad.mit.edu 37 9 116224415 116224415 + Nonsense_Mutation SNP A A T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:116224415A>T ENST00000374140.2 + 4 558 c.349A>T c.(349-351)Aga>Tga p.R117* RGS3_ENST00000350696.5_Nonsense_Mutation_p.R117* NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 117 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 TCTGCCCAGAAGAGATGAGTG 0.547000 34 39 0 0 0.003271 0 0 LPHN3 23284 broad.mit.edu 37 4 62897274 62897274 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:62897274C>T ENST00000512091.1 + 22 4080 c.3333C>T c.(3331-3333)ttC>ttT p.F1111F LPHN3_ENST00000506700.1_Silent_p.F1102F|LPHN3_ENST00000506746.1_Silent_p.F1170F|LPHN3_ENST00000508946.1_Silent_p.F1111F|LPHN3_ENST00000506720.1_Silent_p.F1179F|LPHN3_ENST00000514996.1_Silent_p.F1102F|LPHN3_ENST00000509896.1_Silent_p.F1179F|LPHN3_ENST00000508693.1_Silent_p.F1179F|LPHN3_ENST00000545650.1_Silent_p.F1111F|LPHN3_ENST00000514591.1_Silent_p.F1111F|LPHN3_ENST00000514157.1_Silent_p.F1102F|LPHN3_ENST00000507164.1_Silent_p.F1170F|LPHN3_ENST00000504896.1_Silent_p.F1111F|LPHN3_ENST00000507625.1_Silent_p.F1170F|LPHN3_ENST00000511324.1_Silent_p.F1170F Q9HAR2 LPHN3_HUMAN latrophilin 3 1089 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 TCACCATTTTCAATTCTCTAC 0.348000 25 40 0 0 0.003954 0 0 OR5M11 219487 broad.mit.edu 37 11 56310298 56310298 + Missense_Mutation SNP A A T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:56310298A>T ENST00000528616.2 - 1 459 c.436T>A c.(436-438)Ttt>Att p.F146I NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 ACATAGGGAAATGTGGCCAAG 0.517000 6 17 0 0 0.001168 0 0 SLC44A5 204962 broad.mit.edu 37 1 75679471 75679471 + Silent SNP C C G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:75679471C>G ENST00000370855.5 - 22 1994 c.1881G>C c.(1879-1881)ctG>ctC p.L627L SLC44A5_ENST00000535611.1_Silent_p.L497L|SLC44A5_ENST00000370859.3_Silent_p.L627L NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 627 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 ATAGGAAGGCCAGAACACCTA 0.368000 28 53 0 0 0.007291 0 0 TMTC3 160418 broad.mit.edu 37 12 88589038 88589038 + Missense_Mutation SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:88589038A>G ENST00000266712.6 + 14 2577 c.2357A>G c.(2356-2358)gAc>gGc p.D786G NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 787 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 GAAGAAAAAGACTTATTAAAA 0.343000 24 36 0 0 0.003330 0 0 PTH1R 5745 broad.mit.edu 37 3 46935487 46935487 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:46935487C>T ENST00000449590.1 + 4 369 c.166C>T c.(166-168)Ctg>Ttg p.L56L PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000313049.5_Silent_p.L56L|PTH1R_ENST00000430002.2_Silent_p.L56L|PTH1R_ENST00000418619.1_Silent_p.L56L NM_000316.2 NP_000307.1 Q03431 PTH1R_HUMAN parathyroid hormone 1 receptor 56 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 CAAGGAGGTCCTGCAGAGGCC 0.602000 8 19 0 0 0.006214 0 0 KIF2B 84643 broad.mit.edu 37 17 51901259 51901259 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:51901259G>A ENST00000268919.4 + 1 1021 c.865G>A c.(865-867)Gag>Aag p.E289K NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 289 Kinesin-motor. 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 GCCACTGGTGGAGTCCATCTT 0.577000 26 22 0 0 0.004656 0 0 TDO2 6999 broad.mit.edu 37 4 156839358 156839358 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:156839358C>T ENST00000536354.2 + 11 1098 c.1034C>T c.(1033-1035)tCc>tTc p.S345F NM_005651.3 NP_005642.1 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 345 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) ACCGGTGGTTCCTCAGGCTAT 0.468000 10 25 0 0 0.001855 0 0 SAMD3 154075 broad.mit.edu 37 6 130530700 130530700 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:130530700G>A ENST00000532763.1 - 4 446 c.317C>T c.(316-318)tCt>tTt p.S106F SAMD3_ENST00000368134.2_Missense_Mutation_p.S108F|SAMD3_ENST00000437477.2_Missense_Mutation_p.S108F|SAMD3_ENST00000457563.2_Missense_Mutation_p.S132F|SAMD3_ENST00000324172.6_Missense_Mutation_p.S108F|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Missense_Mutation_p.S108F Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 108 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TGGATAGAAAGATGGCATCTG 0.443000 17 16 0 0 0.001216 0 0 GAS6 2621 broad.mit.edu 37 13 114530089 114530089 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:114530089C>T ENST00000357389.3 - 12 1638 c.1486G>A c.(1486-1488)Gga>Aga p.G496R GAS6_ENST00000480426.1_5'UTR|GAS6_ENST00000355761.4_Missense_Mutation_p.G399R|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000418959.3_Missense_Mutation_p.G154R|GAS6_ENST00000327773.6_Missense_Mutation_p.G453R|GAS6_ENST00000450766.1_Missense_Mutation_p.G180R Q14393 GAS6_HUMAN growth arrest-specific 6 496 Laminin G-like 1. cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) GTGTCTTCTCCGTTCAGCCAG 0.577000 23 23 0 0 0.003330 0 0 NRAS 4893 broad.mit.edu 37 1 115258747 115258747 + Missense_Mutation SNP C C G rs121913237 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:115258747C>G ENST00000369535.4 - 2 288 c.35G>C c.(34-36)gGt>gCt p.G12A NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 12 G -> C (in leukemia). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.G12D(375)|p.G12V(59)|p.G12A(42)|p.G12N(2)|p.G12E(1)|p.G12P(1)|p.G12Y(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-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) CCCAACACCACCTGCTCCAAC 0.493000 G12D(697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC151_ENDOMETRIUM)|G12D(KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 45 58 0 0 0.003610 0 0 SULT2A1 6822 broad.mit.edu 37 19 48386976 48386976 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:48386976G>A ENST00000222002.3 - 2 342 c.203C>T c.(202-204)tCt>tTt p.S68F NM_003167.3 NP_003158.2 Q06520 ST2A1_HUMAN sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 68 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) GATGGGCACAGATTGGATCCA 0.483000 13 24 0 0 0.006122 0 0 CSMD3 114788 broad.mit.edu 37 8 113358332 113358332 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:113358332C>T ENST00000297405.5 - 41 6680 c.6436G>A c.(6436-6438)Ggt>Agt p.G2146S CSMD3_ENST00000343508.3_Missense_Mutation_p.G2106S|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2042S|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2076S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2146 CUB 12. 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 ATACCAAAACCTATGGGTAGA 0.343000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 44 24 0 0 0.003610 0 0 RASD2 23551 broad.mit.edu 37 22 35947680 35947680 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:35947680C>T ENST00000216127.4 + 3 1044 c.402C>T c.(400-402)ccC>ccT p.P134P NM_014310.3 NP_055125.2 Q96D21 RHES_HUMAN RASD family, member 2 134 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 CGGAGCTGCCCATGGTCATCT 0.622000 9 18 0 0 0.000673 0 0 CCDC92 80212 broad.mit.edu 37 12 124422110 124422110 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:124422110G>A ENST00000545135.1 - 3 3736 c.440C>T c.(439-441)gCc>gTc p.A147V CCDC92_ENST00000238156.3_Missense_Mutation_p.A164V|CCDC92_ENST00000545891.1_Missense_Mutation_p.A147V|CCDC92_ENST00000544798.1_Intron Q53HC0 CCD92_HUMAN coiled-coil domain containing 92 164 large_intestine(5)|lung(2) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242) CTTCTTGGCGGCGTGCAGCTG 0.647000 26 31 0 0 0.005443 0 0 DGKB 1607 broad.mit.edu 37 7 14620487 14620487 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:14620487C>T ENST00000403951.2 - 19 2031 c.1612_splice c.e19+1 p.G538_splice DGKB_ENST00000402815.1_Splice_Site_p.G537_splice|DGKB_ENST00000444700.2_Splice_Site_p.G519_splice|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Splice_Site_p.G538_splice|DGKB_ENST00000407950.1_Splice_Site_p.G530_splice|DGKB_ENST00000406247.3_Splice_Site_p.G538_splice|DGKB_ENST00000258767.5_Splice_Site_p.G538_splice Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 538 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) GCTGCTTTACCTCCTCCCCAT 0.438000 11 34 0 0 0.001855 0 0 SORCS3 22986 broad.mit.edu 37 10 106737200 106737200 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:106737200C>T ENST00000369701.3 + 4 1130 c.903C>T c.(901-903)ctC>ctT p.L301L NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 301 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) AGAGCCTGCTCTTTCATCCCA 0.458000 11 34 0 0 0.001855 0 0 POTEM 641455 broad.mit.edu 37 14 20019959 20019959 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:20019959C>T ENST00000551509.1 - 1 313 c.262G>A c.(262-264)Gac>Aac p.D88N NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 88 endometrium(4)|kidney(1)|lung(4) 9 ATAGCAGAGTCGTCGTGGTCT 0.627000 20 287 0 0 0.007291 0 0 DENND4B 9909 broad.mit.edu 37 1 153906042 153906042 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:153906042G>A ENST00000361217.4 - 20 3665 c.3247C>T c.(3247-3249)Cct>Tct p.P1083S NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 1083 NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGCAGGTCAGGAGGCAGCTCA 0.711000 6 21 0 0 0.001984 0 0 LRP2 4036 broad.mit.edu 37 2 170135925 170135925 + Missense_Mutation SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:170135925T>C ENST00000263816.3 - 12 1807 c.1522A>G c.(1522-1524)Aac>Gac p.N508D LRP2_ENST00000443831.1_Missense_Mutation_p.N508D NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 508 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) TGCCCCAAGTTTTCAGTTATA 0.398000 35 63 0 0 0.006230 0 0 PDILT 204474 broad.mit.edu 37 16 20376851 20376851 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:20376851G>A ENST00000302451.4 - 9 1376 c.1128C>T c.(1126-1128)tcC>tcT p.S376S NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 376 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TCTCTTCACTGGATTGATGTT 0.453000 30 69 0 0 0.002836 0 0 KCNS1 3787 broad.mit.edu 37 20 43723761 43723761 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:43723761C>T ENST00000306117.1 - 5 1727 c.1331G>A c.(1330-1332)gGg>gAg p.G444E KCNS1_ENST00000537075.1_Missense_Mutation_p.G444E NM_002251.3 NP_002242.2 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 444 voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding endometrium(1)|lung(3)|ovary(1)|stomach(1) 6 Myeloproliferative disorder(115;0.0122) CAGGATGCCCCCTAGGATGCA 0.622000 17 22 0 0 0.004990 0 0 SP140L 93349 broad.mit.edu 37 2 231254709 231254709 + Missense_Mutation SNP G G C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:231254709G>C ENST00000243810.6 + 11 935 c.935G>C c.(934-936)gGa>gCa p.G312A SP140L_ENST00000444636.1_Missense_Mutation_p.G312A|SP140L_ENST00000396563.4_Intron|SP140L_ENST00000415673.2_Missense_Mutation_p.G312A Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 312 SAND. nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 GGGGTGAAGGGAATTTTACAT 0.398000 10 27 0 0 0.001855 0 0 MYL10 93408 broad.mit.edu 37 7 101256766 101256766 + Missense_Mutation SNP C C T rs147592822 by1000genomes TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:101256766C>T ENST00000223167.4 - 8 847 c.670G>A c.(670-672)Gag>Aag p.E224K NM_138403.4 NP_612412.2 Q9BUA6 MYL10_HUMAN myosin, light chain 10, regulatory 224 EF-hand 3. mitochondrion calcium ion binding breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 12 TAATCCTTCTCTTCACCGTGA 0.537000 14 51 0 0 0.003163 0 0 GRAMD4 23151 broad.mit.edu 37 22 47059987 47059987 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:47059987C>T ENST00000406902.1 + 8 903 c.690C>T c.(688-690)tcC>tcT p.S230S GRAMD4_ENST00000361034.3_Silent_p.S230S Q6IC98 GRAM4_HUMAN GRAM domain containing 4 230 apoptosis integral to membrane|mitochondrial membrane breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 12 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) ACTGGTACTCCGTCTACACGT 0.597000 27 55 0 0 0.001786 0 0 RYR2 6262 broad.mit.edu 37 1 237777781 237777781 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:237777781G>A ENST00000366574.2 + 37 5670 c.5353G>A c.(5353-5355)Gac>Aac p.D1785N RYR2_ENST00000542537.1_Missense_Mutation_p.D1769N|RYR2_ENST00000360064.6_Missense_Mutation_p.D1783N NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1785 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) GTTCCCACTGGACATCCTCAA 0.507000 33 54 0 0 0.002445 0 0 PVRL4 81607 broad.mit.edu 37 1 161047403 161047403 + Silent SNP T T G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:161047403T>G ENST00000368012.3 - 3 872 c.570A>C c.(568-570)acA>acC p.T190T NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 190 Ig-like C2-type 1. adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GGCTGGACGTTGTGCCTTTGA 0.637000 13 31 0 0 0.001855 0 0 PRB2 653247 broad.mit.edu 37 12 11546356 11546356 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:11546356C>T ENST00000389362.4 - 3 691 c.656G>A c.(655-657)gGa>gAa p.G219E PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTGTGGCTTTCCTGGAGGTGG 0.607000 46 52 0 0 0.003610 0 0 SERPINB9 5272 broad.mit.edu 37 6 2890648 2890648 + Nonsense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:2890648G>A ENST00000380698.4 - 7 969 c.880C>T c.(880-882)Caa>Taa p.Q294* NM_004155.5 NP_004146.1 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 9 294 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15 Ovarian(93;0.0412) all_hematologic(90;0.108) TTGCCCTGTTGGAAGGCATCA 0.463000 28 88 0 0 0.001512 0 0 GPR149 344758 broad.mit.edu 37 3 154056017 154056017 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:154056017C>T ENST00000389740.2 - 4 1766 c.1667G>A c.(1666-1668)gGg>gAg p.G556E NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 556 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AGACACAGTCCCCTGGAATGC 0.448000 34 61 0 0 0.002836 0 0 ST18 9705 broad.mit.edu 37 8 53044647 53044647 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:53044647C>T ENST00000276480.7 - 22 3220 c.2537G>A c.(2536-2538)aGa>aAa p.R846K NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 846 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CTCCTTCTGTCTCTTGGCAGC 0.522000 13 51 0 0 0.001368 0 0 ITPR1 3708 broad.mit.edu 37 3 4725191 4725191 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:4725191C>T ENST00000302640.8 + 26 3588 c.3238C>T c.(3238-3240)Cgg>Tgg p.R1080W ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.R1071W|ITPR1_ENST00000443694.2_Missense_Mutation_p.R1080W|ITPR1_ENST00000357086.4_Missense_Mutation_p.R1086W|ITPR1_ENST00000423119.2_Missense_Mutation_p.R1086W|ITPR1_ENST00000354582.6_Missense_Mutation_p.R1095W NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1095 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GCTCCTCTTCCGGCACTTCAG 0.592000 23 12 0 0 0.002780 0 0 HECTD4 283450 broad.mit.edu 37 12 112673402 112673402 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:112673402G>A ENST00000550722.1 - 36 5588 c.5193C>T c.(5191-5193)gtC>gtT p.V1731V HECTD4_ENST00000430131.2_Silent_p.V1455V|HECTD4_ENST00000377560.5_Silent_p.V1705V NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TTAAGGAGGGGACAGAGTAGC 0.567000 15 23 0 0 0.003163 0 0 ZIC4 84107 broad.mit.edu 37 3 147120535 147120535 + Missense_Mutation SNP C C T rs148365070 by1000genomes TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:147120535C>T ENST00000383075.3 - 2 562 c.50G>A c.(49-51)cGa>cAa p.R17Q ZIC4_ENST00000473123.1_Missense_Mutation_p.R17Q|ZIC4_ENST00000525172.2_Missense_Mutation_p.R67Q|ZIC4_ENST00000425731.3_Missense_Mutation_p.R55Q|ZIC4_ENST00000491672.1_Missense_Mutation_p.R17Q|ZIC4_ENST00000484399.1_Missense_Mutation_p.R17Q NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 17 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 AAGAGTGTTTCGGTAAAGCCG 0.353000 23 70 0 0 0.005443 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19713797 19713797 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:19713797G>A ENST00000397821.3 - 5 743 c.453C>T c.(451-453)ttC>ttT p.F151F SH3KBP1_ENST00000379698.4_Silent_p.F114F|SH3KBP1_ENST00000379697.3_Silent_p.F151F NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 151 SH3 2. apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 GCTCCTTGATGAAGTTGGAAG 0.498000 26 14 0 0 0.004656 0 0 CHRNA4 1137 broad.mit.edu 37 20 61981885 61981885 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:61981885G>A ENST00000370263.4 - 5 1099 c.878C>T c.(877-879)aCc>aTc p.T293I CHRNA4_ENST00000463705.1_5'UTR NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 293 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) GATGATCTCGGTGATGAGCAG 0.582000 17 26 0 0 0.004007 0 0 OR5K4 403278 broad.mit.edu 37 3 98073321 98073321 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:98073321C>T ENST00000354924.2 + 1 624 c.624C>T c.(622-624)atC>atT p.I208I RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I208I(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 CAATTCAAATCTTTACCATTG 0.343000 15 16 0 0 0.004007 0 0 DDX60 55601 broad.mit.edu 37 4 169206650 169206650 + Splice_Site SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:169206650C>T ENST00000393743.3 - 11 1631 c.e11-1 NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TTGGAGCTGTCTGTAAACAAA 0.294000 9 11 0 0 0.004482 0 0 AGRN 375790 broad.mit.edu 37 1 980598 980598 + Missense_Mutation SNP A A G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:980598A>G ENST00000379370.2 + 13 2362 c.2312A>G c.(2311-2313)tAc>tGc p.Y771C NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 771 axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CAGACGCCCTACGGCTGCTGC 0.687000 5 11 0 0 0.000602 0 0 C12orf50 160419 broad.mit.edu 37 12 88390262 88390262 + Missense_Mutation SNP C C T rs146964348 byFrequency TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:88390262C>T ENST00000298699.2 - 6 550 c.370G>A c.(370-372)Gaa>Aaa p.E124K C12orf50_ENST00000550553.1_Missense_Mutation_p.E124K NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 124 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 CTGTAGTATTCCCCTAATCAA 0.313000 16 19 0 0 0.004007 0 0 SEMA3F 6405 broad.mit.edu 37 3 50224101 50224101 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:50224101C>T ENST00000002829.3 + 18 2353 c.1869C>T c.(1867-1869)ttC>ttT p.F623F SEMA3F_ENST00000413852.1_Silent_p.F524F|SEMA3F_ENST00000434342.1_Silent_p.F592F NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 623 Ig-like C2-type. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) GCGCAGCCTTCCTTGAGTGCC 0.627000 5 17 0 0 0.000602 0 0 MYH15 22989 broad.mit.edu 37 3 108224661 108224661 + Nonsense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:108224661C>T ENST00000273353.3 - 3 220 c.164G>A c.(163-165)tGg>tAg p.W55* NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 55 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 ATCAGGAATCCAGCATTTCTT 0.363000 22 46 0 0 0.003954 0 0 FAM117B 150864 broad.mit.edu 37 2 203620370 203620370 + Frame_Shift_Del DEL T T - TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:203620370delT ENST00000303116.6 + 5 1080 c.338delT c.(337-339)atfs p.I113fs FAM117B_ENST00000392238.2_Frame_Shift_Del_p.I357fs NM_173511.3 NP_775782.2 Q6P1L5 F117B_HUMAN family with sequence similarity 117, member B 357 breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 GAAATAATAATTAAAGAGACT 0.368 76 156 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149499116 149499117 + RNA DEL AT AT - rs61047652 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:149499116_149499117delAT ENST00000378016.2 + 0 7495 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCGGCCCCCATGCCCCTGCAG 0.703 6 4 --- --- --- --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:43844265delG ENST00000377564.3 + 10 1992 c.1599delG c.(1597-1599)gcfs p.A533fs NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCAGGGGGCGCTGGGGAGTT 0.542 3 3 --- --- --- --- PBX3 5090 broad.mit.edu 37 9 128692021 128692022 + Frame_Shift_Del DEL AT AT - TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:128692021_128692022delAT ENST00000373487.4 + 4 684_685 c.604_605delAT c.(604-606)gfs p.M202fs PBX3_ENST00000447726.2_Frame_Shift_Del_p.M127fs|PBX3_ENST00000373489.5_Frame_Shift_Del_p.M202fs|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373483.2_Frame_Shift_Del_p.M21fs|PBX3_ENST00000342287.5_Frame_Shift_Del_p.M202fs P40426 PBX3_HUMAN pre-B-cell leukemia homeobox 3 202 anterior compartment pattern formation|posterior compartment specification sequence-specific DNA binding transcription factor activity biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2) 24 GATTGAAAGAATGGTGGGCATC 0.396 28 40 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 4 8 --- --- --- --- STAB2 55576 broad.mit.edu 37 12 104031013 104031013 + Splice_Site DEL C C - TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:104031013delC ENST00000388887.2 + 7 912 c.709_splice c.e7+1 p.D236_splice NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 236 EGF-like 3. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AATACTGCGACCGTGAGTAGA 0.388 16 34 --- --- --- --- MAP1A 4130 broad.mit.edu 37 15 43817125 43817130 + In_Frame_Del DEL TCCCTC TCCCTC - TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:43817125_43817130delTCCCTC ENST00000382031.1 + 5 4199_4204 c.4168_4173delTCCCTC c.(4168-4173)del p.SL1390del MAP1A_ENST00000399453.1_In_Frame_Del_p.SL1152del|MAP1A_ENST00000300231.5_In_Frame_Del_p.SL1152del P78559 MAP1A_HUMAN microtubule-associated protein 1A 1152 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AGATGCAGAATCCCTCTCTGTCCTCA 0.553 11 36 --- --- --- --- CDYL2 124359 broad.mit.edu 37 16 80638416 80638416 + Frame_Shift_Del DEL G G - TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:80638416delG ENST00000299564.8 - 7 1545 c.1390delC c.(1390-1392)ggfs p.R464fs CDYL2_ENST00000566173.1_Frame_Shift_Del_p.R465fs|CDYL2_ENST00000563890.1_Frame_Shift_Del_p.R465fs|CDYL2_ENST00000562812.1_Frame_Shift_Del_p.R465fs NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 464 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 AGGAAGCTCCGCACGAGGCAT 0.547 58 84 --- --- --- --- ZNF714 148206 broad.mit.edu 37 19 21300286 21300286 + Frame_Shift_Del DEL T T - TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:21300286delT ENST00000596143.1 + 5 1141 c.816delT c.(814-816)acfs p.T273fs ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR NM_182515.3 NP_872321.2 Q96N38 ZN714_HUMAN zinc finger protein 714 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 CAGCCCTTACTACACATAAGT 0.348 2 4 --- --- --- --- SAMHD1 25939 broad.mit.edu 37 20 35555605 35555612 + Frame_Shift_Del DEL GAGCAAGT GAGCAAGT - TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:35555605_35555612delGAGCAAGT ENST00000262878.4 - 6 868_875 c.669_676delACTTGCTC c.(667-678)ccgcfs p.PLAR223fs SAMHD1_ENST00000373694.5_Frame_Shift_Del_p.PLAR8fs NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 223 HD. 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) ACCTCCGGGCGAGCAAGTGGAATAAATC 0.351 7 64 --- --- --- ---