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 TIAM2 26230 broad.mit.edu 37 6 155450761 155450761 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:155450761G>A ENST00000461783.3 + 6 1677 c.404G>A c.(403-405)gGa>gAa p.G135E TIAM2_ENST00000529824.2_Missense_Mutation_p.G135E|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.G135E|TIAM2_ENST00000360366.4_Missense_Mutation_p.G135E|TIAM2_ENST00000456144.1_Missense_Mutation_p.G135E Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 135 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GACTGCAACGGACACCTTCTC 0.567000 24 65 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21225002 21225002 + Missense_Mutation SNP T T C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:21225002T>C ENST00000233242.1 - 29 13419 c.13292A>G c.(13291-13293)aAc>aGc p.N4431S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4431 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) GGAAGTAAAGTTAGAGGCACT 0.373000 23 92 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81624209 81624209 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:81624209C>T ENST00000356860.3 - 20 2047 c.1709G>A c.(1708-1710)aGa>aAa p.R570K CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R589K NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 589 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) AACCAGAGTTCTGAATGTTTT 0.299000 9 84 0 0 1 0 0 ORC4 5000 broad.mit.edu 37 2 148733484 148733484 + Missense_Mutation SNP T T A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:148733484T>A ENST00000535373.1 - 3 476 c.44A>T c.(43-45)gAg>gTg p.E15V ORC4_ENST00000540442.1_Intron|ORC4_ENST00000392857.4_Missense_Mutation_p.E15V|ORC4_ENST00000392858.1_Missense_Mutation_p.E15V|ORC4_ENST00000264169.2_Missense_Mutation_p.E15V|ORC4_ENST00000542387.1_5'UTR|ORC4_ENST00000536575.1_Intron NM_001190879.2 NP_001177808.1 O43929 ORC4_HUMAN origin recognition complex, subunit 4 15 cell cycle checkpoint|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 nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 14 TGAAAGGCACTCTGTGTGAAT 0.308000 38 54 0 0 1 0 0 IQCG 84223 broad.mit.edu 37 3 197670664 197670664 + Silent SNP T T C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:197670664T>C ENST00000265239.6 - 4 691 c.267A>G c.(265-267)agA>agG p.R89R IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Silent_p.R89R|IQCG_ENST00000453254.1_Silent_p.R89R NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 89 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) AGATGCTCTGTCTCCCTTCGT 0.438000 36 120 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204970377 204970377 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:204970377C>T ENST00000367172.4 + 28 3748 c.3420C>T c.(3418-3420)ttC>ttT p.F1140F NFASC_ENST00000404907.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367171.4_Silent_p.F1125F|NFASC_ENST00000401399.1_Silent_p.F1033F|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000339876.6_Silent_p.F1033F|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000367170.4_Silent_p.F1061F O94856 NFASC_HUMAN neurofascin 1140 Fibronectin type-III 5. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AGCACAATTTCGGGCCCGGAA 0.587000 9 26 0 0 1 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149212551 149212551 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:149212551C>T ENST00000309241.5 + 5 947 c.915C>T c.(913-915)ccC>ccT p.P305P PPARGC1B_ENST00000360453.4_Silent_p.P266P|PPARGC1B_ENST00000403750.1_Silent_p.P241P|PPARGC1B_ENST00000394320.3_Silent_p.P305P NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 305 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GGAAGCTGCCCCCACAGACCC 0.662000 28 83 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42565979 42565979 + Translation_Start_Site SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:42565979G>A ENST00000230882.4 + 2 193 c.3G>A c.(1-3)atG>atA p.M1I GHR_ENST00000357703.3_Start_Codon_SNP_p.M1I|GHR_ENST00000537449.1_5'UTR NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 1 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CTACAGGTATGGATCTCTGGC 0.448000 39 105 0 0 1 0 0 CRLF2 64109 broad.mit.edu 37 X 1317520 1317520 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chrX:1317520G>A ENST00000381567.3 - 5 544 c.545C>T c.(544-546)tCt>tTt p.S182F CRLF2_ENST00000467626.1_Intron NM_022148.2 NP_071431.2 Q9HC73 CRLF2_HUMAN cytokine receptor-like factor 2 182 Fibronectin type-III. extracellular region|integral to membrane|plasma membrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9) 20 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) GACCCAGAAAGAGTAACACTT 0.502000 """Mis, T""" """P2RY8, IGH@""" """B-ALL, Downs associated ALL""" 39 73 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28409144 28409144 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr10:28409144G>A ENST00000337532.5 - 11 1142 c.866C>T c.(865-867)cCc>cTc p.P289L MPP7_ENST00000375732.1_Missense_Mutation_p.P289L|MPP7_ENST00000445954.2_Missense_Mutation_p.P164L|MPP7_ENST00000540098.1_Missense_Mutation_p.P289L|MPP7_ENST00000375719.3_Missense_Mutation_p.P289L NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 289 SH3. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 ATGCTTTGAGGGGATCAAGCC 0.448000 43 38 0 0 1 0 0 PNPLA8 50640 broad.mit.edu 37 7 108155457 108155457 + Missense_Mutation SNP T T C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:108155457T>C ENST00000426128.2 - 2 604 c.479A>G c.(478-480)tAt>tGt p.Y160C PNPLA8_ENST00000388728.5_Missense_Mutation_p.Y160C|PNPLA8_ENST00000453144.1_Missense_Mutation_p.Y60C|PNPLA8_ENST00000422087.1_Missense_Mutation_p.Y160C|PNPLA8_ENST00000257694.8_Missense_Mutation_p.Y160C|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000436062.1_Missense_Mutation_p.Y160C NM_001256009.1 NP_001242938.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 160 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 TTTGTCACTATATTTTTTCAG 0.333000 18 127 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238257018 238257018 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:238257018C>T ENST00000295550.4 - 30 7392 c.6940G>A c.(6940-6942)Gga>Aga p.G2314R COL6A3_ENST00000472056.1_Missense_Mutation_p.G1707R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2113R|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2108R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2114R|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2108R NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2314 Collagen-like 5.|Triple-helical region. 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) CCAGGGAATCCTCTTTCTCCC 0.368000 43 79 0 0 1 0 0 EPS8 2059 broad.mit.edu 37 12 15814976 15814976 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:15814976C>T ENST00000281172.5 - 9 1230 c.794G>A c.(793-795)cGc>cAc p.R265H EPS8_ENST00000543523.1_Missense_Mutation_p.R265H|EPS8_ENST00000543612.1_Missense_Mutation_p.R265H|EPS8_ENST00000540613.1_Missense_Mutation_p.R5H|EPS8_ENST00000542903.1_Missense_Mutation_p.R5H NM_004447.5 NP_004438.3 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway substrate 8 265 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) TCTGTCAATGCGGGCTGCCAT 0.388000 76 207 0 0 1 0 0 VSTM4 196740 broad.mit.edu 37 10 50315700 50315700 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr10:50315700G>A ENST00000332853.3 - 2 419 c.396C>T c.(394-396)atC>atT p.I132I VSTM4_ENST00000298454.3_Silent_p.I132I NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 132 Ig-like. integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 TGTGCCTGCTGATTTCCTGGA 0.617000 49 68 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41727828 41727828 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:41727828C>T ENST00000301178.4 + 4 643 c.453C>T c.(451-453)gcC>gcT p.A151A CTD-2195B23.3_ENST00000598541.1_RNA|AXL_ENST00000594880.1_3'UTR|AXL_ENST00000359092.3_Silent_p.A151A NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 151 Ig-like C2-type 2. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 GGACTGTGGCCGCCAACACCC 0.657000 5 30 0 0 1 0 0 APOBEC3F 200316 broad.mit.edu 37 22 39448686 39448686 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:39448686G>A ENST00000308521.5 + 7 1465 c.1108G>A c.(1108-1110)Gag>Aag p.E370K APOBEC3G_ENST00000452957.2_Intron NM_145298.5 NP_660341.2 Q9HC16 ABC3G_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F 377 D -> Y (in Ref. 1; no nucleotide entry). base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2) 16 Melanoma(58;0.04) CAAGCTGCAGGAGATTCTCGA 0.502000 76 194 0 0 1 0 0 ZNRF3 84133 broad.mit.edu 37 22 29445491 29445491 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:29445491C>T ENST00000544604.2 + 8 1497 c.1322C>T c.(1321-1323)tCc>tTc p.S441F ZNRF3_ENST00000332811.4_Missense_Mutation_p.S341F|ZNRF3_ENST00000406323.3_Missense_Mutation_p.S341F|ZNRF3_ENST00000402174.1_Missense_Mutation_p.S341F NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 441 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 CGGGCCTACTCCCCAGCCCAC 0.647000 22 66 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39225864 39225864 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:39225864G>A ENST00000340369.3 - 2 5301 c.5073C>T c.(5071-5073)aaC>aaT p.N1691N XIRP1_ENST00000421646.1_Silent_p.N374N|XIRP1_ENST00000396251.1_3'UTR NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1691 Interaction with FLNC. actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) AGACATCAGGGTTGCCCTTAA 0.527000 42 78 0 0 1 0 0 SENP7 57337 broad.mit.edu 37 3 101177837 101177837 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:101177837G>A ENST00000394095.2 - 4 299 c.246C>T c.(244-246)atC>atT p.I82I SENP7_ENST00000348610.3_Silent_p.I49I|SENP7_ENST00000358203.3_Silent_p.I49I|SENP7_ENST00000394091.1_Silent_p.I49I|SENP7_ENST00000394094.2_Silent_p.I82I|SENP7_ENST00000314261.7_Silent_p.I82I NM_020654.3 NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 82 proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GACACCCTCGGATATGTTTTT 0.328000 95 243 0 0 1 0 0 SLCO1B7 338821 broad.mit.edu 37 12 21172288 21172288 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:21172288G>A ENST00000421593.2 + 2 192 c.192G>A c.(190-192)atG>atA p.M64I LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron NM_001009562.4 NP_001009562.3 solute carrier organic anion transporter family, member 1B7 (non-functional) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 GTATTTTGATGGCTTTACCAC 0.328000 30 71 0 0 1 0 0 GIGYF1 64599 broad.mit.edu 37 7 100280640 100280640 + Nonsense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:100280640G>A ENST00000275732.5 - 19 3616 c.2407C>T c.(2407-2409)Cga>Tga p.R803* NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 803 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CTCACCACTCGGTGGTTGGGG 0.682000 7 19 0 0 1 0 0 RNF20 56254 broad.mit.edu 37 9 104307077 104307077 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:104307077G>A ENST00000389120.3 + 6 747 c.657G>A c.(655-657)caG>caA p.Q219Q NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 219 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) AAGCAGTGCAGGAGCTGAACT 0.408000 29 83 0 0 1 0 0 PAX8 7849 broad.mit.edu 37 2 113993096 113993096 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:113993096G>A ENST00000429538.3 - 9 1156 c.962C>T c.(961-963)cCt>cTt p.P321L PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000348715.5_Intron|PAX8_ENST00000263334.5_Intron|PAX8_ENST00000397647.3_Intron NM_003466.3 NP_003457.1 Q06710 PAX8_HUMAN paired box 8 321 Ser-rich. branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity PAX8/PPARG(117) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1) 20 TAAAGAGGAAGGGGTGGAGCT 0.597000 T PPARG follicular thyroid Thyroid dysgenesis 7 38 0 0 1 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841397 8841397 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:8841397G>A ENST00000324060.2 + 1 82 c.7G>A c.(7-9)Gat>Aat p.D3N NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AAACATGGGGGATGTGAATCA 0.498000 12 58 0 0 1 0 0 SLC24A4 123041 broad.mit.edu 37 14 92920275 92920275 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:92920275C>T ENST00000532405.1 + 11 1138 c.912C>T c.(910-912)ccC>ccT p.P304P SLC24A4_ENST00000393265.2_Silent_p.P240P|SLC24A4_ENST00000531433.1_Silent_p.P285P|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000298877.1_Silent_p.P287P|SLC24A4_ENST00000351924.5_Silent_p.P268P Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 304 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) GCAAGAACCCCGTGGTGATGG 0.527000 31 34 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161139847 161139847 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:161139847C>T ENST00000308192.9 + 9 1136 c.1073C>T c.(1072-1074)tCc>tTc p.S358F NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 358 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) TCCCCAGTATCCACGGAACAA 0.507000 23 47 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6483959 6483959 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr10:6483959G>A ENST00000263125.5 - 16 1831 c.1732C>T c.(1732-1734)Cct>Tct p.P578S PRKCQ_ENST00000539722.1_Missense_Mutation_p.P453S|PRKCQ_ENST00000397176.2_Intron NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 578 Protein kinase. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity p.P578S(1) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 CCGTGGAAAGGCGACTGACCA 0.527000 19 108 0 0 1 0 0 STK36 27148 broad.mit.edu 37 2 219558670 219558670 + Missense_Mutation SNP C C T rs150583201 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:219558670C>T ENST00000295709.3 + 19 2579 c.2300C>T c.(2299-2301)tCc>tTc p.S767F STK36_ENST00000392105.3_Missense_Mutation_p.S767F|STK36_ENST00000392106.2_Missense_Mutation_p.S767F|STK36_ENST00000440309.1_Missense_Mutation_p.S767F NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 767 S -> T (in dbSNP:rs17856748).|S -> Y (in an ovarian papillary serous adenocarcinoma sample; somatic mutation). 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 p.S767T(1) 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) TACTTCCTCTCCCTTCTTGTC 0.448000 29 94 0 0 1 0 0 NTN4 59277 broad.mit.edu 37 12 96077378 96077378 + Silent SNP A A T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:96077378A>T ENST00000343702.4 - 6 1738 c.1290T>A c.(1288-1290)cgT>cgA p.R430R NTN4_ENST00000344911.4_Silent_p.R393R|NTN4_ENST00000553059.1_Silent_p.R430R|NTN4_ENST00000538383.1_Silent_p.R393R NM_021229.3 NP_067052.2 Q9HB63 NET4_HUMAN netrin 4 430 Laminin EGF-like 3. axon guidance basement membrane|plasma membrane NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 ACCTGTCACAACGTCGCCCTG 0.597000 35 82 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97467544 97467544 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:97467544G>A ENST00000389672.5 + 18 3430 c.3392G>A c.(3391-3393)tGa>tAa p.*1131* NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 0 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TTTCATGTATGAAAGTACCAC 0.403000 4 25 0 0 1 0 0 HEATR2 54919 broad.mit.edu 37 7 810213 810213 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:810213C>T ENST00000297440.6 + 9 1909 c.1889C>T c.(1888-1890)tCc>tTc p.S630F HEATR2_ENST00000403952.3_Missense_Mutation_p.S55F|HEATR2_ENST00000313147.5_Missense_Mutation_p.S630F NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 630 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) TCCATCCTGTCCACCGTGCTG 0.692000 27 103 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36752196 36752196 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:36752196G>A ENST00000354618.5 + 4 589 c.365G>A c.(364-366)cGa>cAa p.R122Q THRAP3_ENST00000469141.2_Missense_Mutation_p.R122Q NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 122 Arg-rich.|Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGTCCTCGTCGAGGCCGTTCA 0.517000 T USP6 aneurysmal bone cysts 6 378 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38802408 38802408 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:38802408G>A ENST00000359357.3 + 30 3959 c.3705G>A c.(3703-3705)caG>caA p.Q1235Q DNAH8_ENST00000441566.1_Silent_p.Q1235Q|DNAH8_ENST00000449981.2_Silent_p.Q1452Q dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ACAGGCTACAGATATTTCAGG 0.318000 32 96 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3633497 3633497 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:3633497G>A ENST00000294008.3 - 14 5394 c.4754C>T c.(4753-4755)cCt>cTt p.P1585L NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1585 Interaction with MUS81.|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 TTTAGGCAGAGGGCGGACTCC 0.557000 Direct reversal of damage 53 140 0 0 1 0 0 CEACAM21 90273 broad.mit.edu 37 19 42085690 42085690 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:42085690G>A ENST00000407170.2 + 4 838 c.25G>A c.(25-27)Gtc>Atc p.V9I CEACAM21_ENST00000482870.2_Intron|CEACAM21_ENST00000401445.2_Intron|CEACAM21_ENST00000187608.9_Intron Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion molecule 21 0 integral to membrane endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 13 CTTTCTGTTGGTCACTCTATC 0.502000 18 58 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10907039 10907039 + Splice_Site SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr21:10907039G>A ENST00000298232.7 - 23 1835 c.1466_splice c.e23-1 p.L490_splice TPTE_ENST00000342420.5_Splice_Site_p.L470_splice|TPTE_ENST00000361285.4_Splice_Site_p.L508_splice|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 508 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GGTAGATAAAGCCTAAGAATA 0.343000 4 57 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126370128 126370128 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:126370128G>A ENST00000394329.3 + 9 7970 c.7957G>A c.(7957-7959)Gag>Aag p.E2653K FAT4_ENST00000335110.5_Missense_Mutation_p.E951K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2653 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 ctCCTCTTACGAGAAACTTGA 0.373000 34 98 0 0 1 0 0 CHD1 1105 broad.mit.edu 37 5 98216817 98216817 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:98216817G>A ENST00000284049.3 - 21 3172 c.3023C>T c.(3022-3024)cCt>cTt p.P1008L NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1008 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) TACAGTTAAAGGACCTGGTTC 0.289000 9 37 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118374090 118374090 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:118374090C>T ENST00000534358.1 + 27 7506 c.7483C>T c.(7483-7485)Ctt>Ttt p.L2495F KMT2A_ENST00000389506.5_Missense_Mutation_p.L2492F|KMT2A_ENST00000354520.4_Missense_Mutation_p.L2454F NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A TGATAAAGGCCTTTCTATGCC 0.458000 32 28 0 0 1 0 0 SORCS2 57537 broad.mit.edu 37 4 7677815 7677815 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:7677815C>T ENST00000507866.2 + 9 1309 c.1200C>T c.(1198-1200)ttC>ttT p.F400F SORCS2_ENST00000329016.9_Silent_p.F228F NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 400 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 GTCAGGTGTTCGTGGCGGTGC 0.642000 9 14 0 0 1 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308635 140308635 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:140308635C>T ENST00000253807.2 + 1 2158 c.2158C>T c.(2158-2160)Cgc>Tgc p.R720C PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R720C|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron NM_018898.3 NP_061721.2 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) GAGCTGCTGTCGCTCTACAGA 0.468000 26 100 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66871429 66871429 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:66871429G>A ENST00000269080.2 - 35 4620 c.4483C>T c.(4483-4485)Ctt>Ttt p.L1495F ABCA8_ENST00000586539.1_Missense_Mutation_p.L1535F|ABCA8_ENST00000430352.2_Missense_Mutation_p.L1535F NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1495 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) TGGGGGAAAAGCCTCAGGATC 0.468000 32 66 0 0 1 0 0 GALNT6 11226 broad.mit.edu 37 12 51749610 51749610 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:51749610C>T ENST00000543196.2 - 10 1940 c.1735G>A c.(1735-1737)Gag>Aag p.E579K GALNT6_ENST00000356317.3_Missense_Mutation_p.E579K Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 579 Ricin B-type lectin. protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TCCCATTCCTCGTCCTTGGGG 0.547000 34 107 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16110374 16110374 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:16110374C>T ENST00000399408.2 + 5 686 c.511C>T c.(511-513)Cgt>Tgt p.R171C ABCC1_ENST00000345148.5_Missense_Mutation_p.R171C|ABCC1_ENST00000349029.5_Missense_Mutation_p.R171C|ABCC1_ENST00000399410.3_Missense_Mutation_p.R171C|ABCC1_ENST00000346370.5_Missense_Mutation_p.R171C|ABCC1_ENST00000351154.5_Missense_Mutation_p.R171C P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 171 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GGACCTGTTTCGTGACATCAC 0.512000 48 327 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140432572 140432572 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:140432572C>T ENST00000306549.3 + 1 1594 c.1517C>T c.(1516-1518)tCc>tTc p.S506F NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 506 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTTACATATCCATAAATTCA 0.423000 14 38 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100061971 100061971 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:100061971C>T ENST00000524871.1 + 14 1984 c.1694C>T c.(1693-1695)tCg>tTg p.S565L CNTN5_ENST00000279463.3_Missense_Mutation_p.S565L|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.S565L|CNTN5_ENST00000527185.1_Missense_Mutation_p.S565L|CNTN5_ENST00000418526.2_Missense_Mutation_p.S491L NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 565 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ATTATAGCTTCGCTATCTGTA 0.398000 8 36 0 0 1 0 0 ATP9A 10079 broad.mit.edu 37 20 50225140 50225140 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr20:50225140G>A ENST00000338821.5 - 25 2926 c.2662C>T c.(2662-2664)Cct>Tct p.P888S ATP9A_ENST00000311637.5_Missense_Mutation_p.P752S|ATP9A_ENST00000402822.1_Missense_Mutation_p.P767S NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 888 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GAAAACACAGGAAACATGGTG 0.493000 81 106 0 0 1 0 0 NMUR2 56923 broad.mit.edu 37 5 151784662 151784662 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:151784662C>T ENST00000255262.3 - 1 178 c.13G>A c.(13-15)Gaa>Aaa p.E5K NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 5 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) TGAAGTTTTTCCATCCCTGAC 0.453000 17 76 0 0 1 0 0 AKR1B10 57016 broad.mit.edu 37 7 134215427 134215427 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:134215427G>A ENST00000359579.4 + 2 419 c.99G>A c.(97-99)aaG>aaA p.K33K AKR1B10_ENST00000475559.1_3'UTR NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 33 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 AAGCAGTGAAGGTGGCCATTG 0.463000 35 165 0 0 1 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307635 39307635 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:39307635G>A ENST00000541347.1 - 2 605 c.366C>T c.(364-366)gtC>gtT p.V122V CX3CR1_ENST00000358309.3_Silent_p.V154V|CX3CR1_ENST00000399220.2_Silent_p.V122V|CX3CR1_ENST00000542107.1_Silent_p.V122V NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 122 V -> I. cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) CAATGCTGATGACGGTGATGA 0.507000 89 74 0 0 1 0 0 PHF21B 112885 broad.mit.edu 37 22 45309837 45309837 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:45309837G>A ENST00000313237.5 - 5 846 c.696C>T c.(694-696)atC>atT p.I232I PHF21B_ENST00000396103.3_Silent_p.I190I|PHF21B_ENST00000404079.2_Silent_p.I178I|PHF21B_ENST00000447824.3_Silent_p.I178I|PHF21B_ENST00000403565.1_Silent_p.I28I NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 232 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) GCTGAATGATGATGACCTGGA 0.622000 55 134 0 0 1 0 0 MAD1L1 8379 broad.mit.edu 37 7 1855793 1855793 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:1855793G>A ENST00000406869.1 - 19 2627 c.2070C>T c.(2068-2070)atC>atT p.I690I MAD1L1_ENST00000265854.7_Silent_p.I690I|MAD1L1_ENST00000402746.1_Silent_p.I598I|MAD1L1_ENST00000399654.2_Silent_p.I690I Q9Y6D9 MD1L1_HUMAN MAD1 mitotic arrest deficient-like 1 (yeast) 690 cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5) 36 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) GGTGCACCTCGATGAGCTCGC 0.642000 90 105 0 0 1 0 0 CSF2RA 1438 broad.mit.edu 37 X 1407502 1407502 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chrX:1407502G>A ENST00000381524.3 + 5 496 c.310G>A c.(310-312)Gga>Aga p.G104R CSF2RA_ENST00000355805.2_Missense_Mutation_p.G104R|CSF2RA_ENST00000417535.2_Missense_Mutation_p.G104R|CSF2RA_ENST00000361536.3_Missense_Mutation_p.G104R|CSF2RA_ENST00000381509.3_Missense_Mutation_p.G104R|CSF2RA_ENST00000432318.2_Missense_Mutation_p.G104R|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.G104R|CSF2RA_ENST00000355432.3_Missense_Mutation_p.G104R|CSF2RA_ENST00000381500.1_Missense_Mutation_p.G104R P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 104 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TAGTCAAAGAGGATTTCAACA 0.443000 130 253 0 0 1 0 0 GBA 2629 broad.mit.edu 37 1 155204987 155204987 + Splice_Site SNP G G A rs80356771 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:155204987G>A ENST00000428024.2 - 9 1745 c.1244_splice c.e9+1 p.R415_splice GBA_ENST00000327247.5_Splice_Site_p.R502_splice|GBA_ENST00000368373.3_Splice_Site_p.R502_splice|GBA_ENST00000536770.1_Splice_Site_p.R389_splice|GBA_ENST00000427500.2_Splice_Site_p.R453_splice NM_001171811.1 NP_001165282.1 P04062 GLCM_HUMAN glucosidase, beta, acid 502 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) 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) Alglucerase(DB00088)|Imiglucerase(DB00053) TGCCCTCACCGGTTTAGCACG 0.607000 Gaucher disease type I 15 144 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108488520 108488520 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:108488520G>A ENST00000408999.3 + 20 4137 c.4060G>A c.(4060-4062)Gaa>Aaa p.E1354K RGPD4_ENST00000354986.4_Missense_Mutation_p.E1354K NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1354 RanBD1 2. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TGAGGAAAATGAAAAAGTTGT 0.368000 144 299 0 0 1 0 0 ZKSCAN3 80317 broad.mit.edu 37 6 28333859 28333859 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:28333859G>A ENST00000377255.3 + 7 1711 c.1414G>A c.(1414-1416)Gaa>Aaa p.E472K ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.E324K|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.E472K NM_001242894.1 NP_001229823.1 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 472 QGEAWKSRMESQLENVETPMS -> TGRGWKVGWKASWKML KLPCP (in Ref. 5; AAB16813). positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 AAGCCAGTTGGAAAATGTTGA 0.418000 23 60 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27057849 27057849 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:27057849C>T ENST00000324856.7 + 3 1928 c.1557C>T c.(1555-1557)tcC>tcT p.S519S ARID1A_ENST00000457599.2_Silent_p.S519S|ARID1A_ENST00000374152.2_Silent_p.S136S NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 519 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CTCCATACTCCCAGCAGCCAT 0.637000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 199 445 0 0 1 0 0 GALM 130589 broad.mit.edu 37 2 38956698 38956698 + Splice_Site SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:38956698G>A ENST00000272252.5 + 5 887 c.634_splice c.e5-1 p.G212_splice GALM_ENST00000410063.1_Splice_Site_p.G64_splice NM_138801.2 NP_620156.1 Q96C23 GALM_HUMAN galactose mutarotase (aldose 1-epimerase) 212 hexose metabolic process cytoplasm aldose 1-epimerase activity|carbohydrate binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_hematologic(82;0.248) TTCCCATCAGGAGAAGTTGCC 0.478000 37 93 0 0 1 0 0 MICALL2 79778 broad.mit.edu 37 7 1488268 1488268 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:1488268C>T ENST00000297508.7 - 3 497 c.322G>A c.(322-324)Ggc>Agc p.G108S MICALL2_ENST00000405088.4_Intron NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 108 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) GGGGAGCGGCCGTGGAAGTAG 0.647000 57 177 0 0 1 0 0 FAM65A 79567 broad.mit.edu 37 16 67577102 67577102 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:67577102C>T ENST00000540839.3 + 14 2693 c.2473C>T c.(2473-2475)Cgt>Tgt p.R825C FAM65A_ENST00000042381.4_Missense_Mutation_p.R805C|FAM65A_ENST00000379312.3_Missense_Mutation_p.R809C|FAM65A_ENST00000422602.2_Missense_Mutation_p.R825C|FAM65A_ENST00000428437.2_Missense_Mutation_p.R819C Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 809 cytoplasm binding p.R805C(1) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) GGATGACTACCGTGGCCAGTT 0.662000 15 23 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101774462 101774462 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:101774462G>A ENST00000506729.1 - 7 1306 c.1135C>T c.(1135-1137)Ctg>Ttg p.L379L SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Silent_p.L379L|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Silent_p.L317L Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 379 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TTCTTCATCAGAATCTGaaat 0.274000 11 52 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238296802 238296802 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:238296802G>A ENST00000295550.4 - 4 1187 c.735C>T c.(733-735)ttC>ttT p.F245F COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000353578.4_Silent_p.F39F|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000346358.4_Silent_p.F245F|COL6A3_ENST00000409809.1_Silent_p.F39F|COL6A3_ENST00000392004.3_Silent_p.F39F NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 245 Nonhelical region.|VWFA 2. 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) CATCAATAAGGAAAATAATGT 0.378000 24 77 0 0 1 0 0 MIR4485 100616263 broad.mit.edu 37 MT 1792 1792 + RNA SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chrM:1792G>A ENST00000387347.2 + 0 122 NR_039705.1 TAGTACCGCAAGGGAAAGATG 0.383000 5 317 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152285476 152285476 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:152285476C>T ENST00000368799.1 - 3 1921 c.1886G>A c.(1885-1887)gGa>gAa p.G629E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 629 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) TTCTGAGTGTCCCTGACTGTC 0.567000 Ichthyosis 259 422 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123482005 123482005 + Missense_Mutation SNP C C T rs142319238 by1000genomes TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:123482005C>T ENST00000280562.5 - 10 1544 c.1339G>A c.(1339-1341)Ggc>Agc p.G447S PITPNM2_ENST00000392428.1_Missense_Mutation_p.G168S|PITPNM2_ENST00000542749.1_Missense_Mutation_p.G447S|PITPNM2_ENST00000320201.4_Missense_Mutation_p.G447S Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 447 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) TTAGCATCGCCCTTCTTGGAG 0.687000 69 141 0 0 1 0 0 FAM209B 388799 broad.mit.edu 37 20 55111330 55111330 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr20:55111330G>A ENST00000371325.1 + 2 448 c.352G>A c.(352-354)Gaa>Aaa p.E118K NM_001013646.2 NP_001013668.2 Q5JX69 CT107_HUMAN family with sequence similarity 209, member B 118 integral to membrane TACCTTAAACGAACTTGAAGT 0.443000 42 166 0 0 1 0 0 CRTAC1 55118 broad.mit.edu 37 10 99640024 99640024 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr10:99640024C>T ENST00000370597.3 - 14 2156 c.1801G>A c.(1801-1803)Gat>Aat p.D601N CRTAC1_ENST00000370591.2_Missense_Mutation_p.D601N|CRTAC1_ENST00000298819.4_Silent_p.R586R NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 601 EGF-like. proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) GCTGTGCCATCCTCGTTGGGC 0.592000 44 89 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155203370 155203370 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:155203370G>A ENST00000460012.1 - 22 3016 c.2659C>T c.(2659-2661)Cca>Tca p.P887S PLCH1_ENST00000340059.7_Missense_Mutation_p.P925S|PLCH1_ENST00000334686.6_Missense_Mutation_p.P887S|PLCH1_ENST00000494598.1_Missense_Mutation_p.P905S|PLCH1_ENST00000447496.2_Missense_Mutation_p.P925S|PLCH1_ENST00000414191.1_Missense_Mutation_p.P887S Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 925 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CCTTTGGCTGGGGCGCTAGCT 0.473000 36 94 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79188074 79188074 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:79188074C>T ENST00000264895.6 + 8 1214 c.774C>T c.(772-774)ccC>ccT p.P258P FRAS1_ENST00000325942.6_Silent_p.P258P|FRAS1_ENST00000264899.6_Silent_p.P258P NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 258 VWFC 4. 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 CCTGCCTGCCCCTGAGATGCG 0.502000 8 17 0 0 1 0 0 TRBV29-1 28558 broad.mit.edu 37 7 142448667 142448667 + RNA SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:142448667C>T ENST00000422143.2 + 0 328 GCCGCCCAAACCTAACATTCT 0.498000 30 37 0 0 1 0 0 NFAM1 150372 broad.mit.edu 37 22 42807474 42807474 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:42807474G>A ENST00000329021.5 - 2 427 c.390C>T c.(388-390)taC>taT p.Y130Y NM_145912.5 NP_666017.1 Q8NET5 NFAM1_HUMAN NFAT activating protein with ITAM motif 1 130 Ig-like V-type. B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity integral to membrane|intracellular|plasma membrane transmembrane receptor activity large_intestine(1)|lung(3) 4 GGACAGAGCAGTAGTAGGTGC 0.617000 4 71 0 0 1 0 0 SLC46A3 283537 broad.mit.edu 37 13 29284912 29284912 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr13:29284912G>A ENST00000266943.6 - 4 1498 c.1129C>T c.(1129-1131)Cgt>Tgt p.R377C SLC46A3_ENST00000380814.4_Missense_Mutation_p.R377C NM_001135919.1|NM_181785.3 NP_001129391.1|NP_861450.1 Q7Z3Q1 S46A3_HUMAN solute carrier family 46, member 3 377 transmembrane transport integral to membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1) 15 Lung SC(185;0.0367) all cancers(112;0.159) TCAGTCGAACGAACCACTTTT 0.388000 45 75 0 0 1 0 0 ITIH4 3700 broad.mit.edu 37 3 52848273 52848273 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:52848273G>A ENST00000266041.4 - 22 2674 c.2578C>T c.(2578-2580)Ctt>Ttt p.L860F ITIH4_ENST00000346281.5_Missense_Mutation_p.L844F|ITIH4_ENST00000485816.1_Missense_Mutation_p.L865F|ITIH4_ENST00000406595.1_Missense_Mutation_p.L830F NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 860 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) TCACGCAGAAGGAGCCGGAGC 0.612000 7 23 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110226377 110226377 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:110226377C>T ENST00000418703.2 - 12 2130 c.2036G>A c.(2035-2037)gGc>gAc p.G679D TRPV4_ENST00000544971.1_Missense_Mutation_p.G572D|TRPV4_ENST00000541794.1_Missense_Mutation_p.G632D|TRPV4_ENST00000537083.1_Missense_Mutation_p.G619D|TRPV4_ENST00000346520.2_Missense_Mutation_p.G619D|TRPV4_ENST00000536838.1_Missense_Mutation_p.G645D|TRPV4_ENST00000261740.2_Missense_Mutation_p.G679D|TRPV4_ENST00000392719.2_Missense_Mutation_p.G632D NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 679 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 GTCGCCCATGCCGATGGTCAG 0.567000 5 240 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7640269 7640269 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:7640269C>T ENST00000396620.3 - 7 1920 c.1835G>A c.(1834-1836)gGa>gAa p.G612E CD163_ENST00000432237.2_Splice_Site_p.R579_splice|CD163_ENST00000359156.4_Splice_Site_p.R579_splice|CD163_ENST00000541972.1_Splice_Site_p.R567_splice Q86VB7 C163A_HUMAN CD163 molecule 579 SRCR 6. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TTCTGTGTATCCTGGAAGGAG 0.488000 44 138 0 0 1 0 0 ACD 65057 broad.mit.edu 37 16 67692883 67692883 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:67692883G>A ENST00000219251.8 - 7 1173 c.842C>T c.(841-843)cCt>cTt p.P281L ACD_ENST00000393919.4_Missense_Mutation_p.P284L NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 284 Interaction with POT1. intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) TGCTGTGCAAGGGCCCTCCAG 0.617000 65 125 0 0 1 0 0 AC005609.1 0 broad.mit.edu 37 5 140242889 140242889 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:140242889C>T ENST00000502505.1 - 1 335 c.87G>A c.(85-87)caG>caA p.Q29Q PCDHA14_ENST00000562220.1_RNA|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron TCATCGCCATCTGCGTGGTGT 0.642000 19 83 0 0 1 0 0 NEK4 6787 broad.mit.edu 37 3 52775445 52775445 + Missense_Mutation SNP T T A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:52775445T>A ENST00000233027.5 - 13 2277 c.2075A>T c.(2074-2076)gAt>gTt p.D692V NEK4_ENST00000535191.1_Missense_Mutation_p.D603V|NEK4_ENST00000383721.4_Missense_Mutation_p.D646V NM_001193533.1|NM_003157.4 NP_001180462.1|NP_003148.2 P51957 NEK4_HUMAN NIMA-related kinase 4 692 cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) GTAATCCCCATCTGACTTATC 0.318000 30 36 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701769 56701769 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:56701769G>A ENST00000586855.2 - 5 1228 c.915C>T c.(913-915)tcC>tcT p.S305S ZSCAN5B_ENST00000358992.3_Silent_p.S305S A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 305 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CTTGGGAAATGGAGGAGGCAT 0.542000 68 163 0 0 1 0 0 DPPA3P2 400206 broad.mit.edu 37 14 36841100 36841100 + RNA SNP T T A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:36841100T>A ENST00000557188.1 + 0 731 CAGCCATAAATCTTATTCTTG 0.368000 12 112 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8152832 8152832 + Splice_Site SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:8152832C>T ENST00000600128.1 - 53 6911 c.e53-1 FBN3_ENST00000601739.1_Splice_Site|FBN3_ENST00000270509.2_Splice_Site Q75N90 FBN3_HUMAN fibrillin 3 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 TCGTCGATGTCTGGGGAGGCC 0.667000 31 99 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21228550 21228550 + Silent SNP G G A rs75165693 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:21228550G>A ENST00000233242.1 - 26 11317 c.11190C>T c.(11188-11190)ttC>ttT p.F3730F NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3730 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) CAGGAATAATGAATTTATCAG 0.408000 34 206 0 0 1 0 0 MTL5 9633 broad.mit.edu 37 11 68517825 68517825 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:68517825C>T ENST00000443940.2 - 2 390 c.304G>A c.(304-306)Gag>Aag p.E102K MTL5_ENST00000255087.5_Missense_Mutation_p.E102K|MTL5_ENST00000544963.1_Missense_Mutation_p.E102K Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific (tesmin) 102 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) GCGCTGAGCTCTGGGATCCCG 0.751000 7 5 0 0 1 0 0 PTK7 5754 broad.mit.edu 37 6 43127542 43127542 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:43127542C>T ENST00000230419.4 + 19 3111 c.2890C>T c.(2890-2892)Cgc>Tgc p.R964C PTK7_ENST00000352931.2_Missense_Mutation_p.R908C|PTK7_ENST00000345201.2_Missense_Mutation_p.R924C|PTK7_ENST00000481273.1_Missense_Mutation_p.R972C|PTK7_ENST00000349241.2_Missense_Mutation_p.R834C NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 964 Interaction with CTNNB1.|Protein kinase; inactive. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CTACCACTTCCGCCAGGCCTG 0.632000 28 68 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35066012 35066012 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:35066012C>T ENST00000382002.5 - 10 1474 c.1048G>A c.(1048-1050)Ggc>Agc p.G350S PRLR_ENST00000511486.1_Missense_Mutation_p.G249S|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.G249S|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 350 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CTCCCCCGGCCTGAGTCAGTG 0.498000 22 72 0 0 1 0 0 TNIP3 79931 broad.mit.edu 37 4 122068286 122068286 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:122068286C>T ENST00000454328.1 - 9 880 c.653G>A c.(652-654)cGa>cAa p.R218Q TNIP3_ENST00000057513.3_Missense_Mutation_p.R218Q|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000509841.1_Missense_Mutation_p.R295Q|TNIP3_ENST00000507879.1_Missense_Mutation_p.R288Q Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 218 NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 AAGTCTCTCTCGATCCGATCG 0.373000 41 120 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 51254859 51254859 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:51254859G>A ENST00000404971.1 - 2 1892 c.553C>T c.(553-555)Cgt>Tgt p.R185C NRXN1_ENST00000406859.3_Missense_Mutation_p.R185C|NRXN1_ENST00000406316.2_Missense_Mutation_p.R185C|NRXN1_ENST00000401669.2_Missense_Mutation_p.R185C|NRXN1_ENST00000405472.3_Missense_Mutation_p.R185C|NRXN1_ENST00000405581.1_Missense_Mutation_p.R185C|NRXN1_ENST00000402717.3_Missense_Mutation_p.R185C NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 185 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CTCACGTCACGAATCCACCCC 0.706000 7 17 0 0 1 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110030330 110030330 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:110030330C>T ENST00000369870.3 + 5 619 c.604C>T c.(604-606)Ccc>Tcc p.P202S NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 202 breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) CGAGATCATCCCCAGTGAGGG 0.607000 64 155 0 0 1 0 0 HSFY1P1 27437 broad.mit.edu 37 22 17308674 17308674 + RNA SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:17308674C>T ENST00000425038.1 + 0 311 NR_003607.1 CTTCTCTGACCTTTCCCAGTA 0.348000 4 23 0 0 1 0 0 ADH1A 124 broad.mit.edu 37 4 100208729 100208729 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:100208729G>A ENST00000209668.2 - 2 225 c.112C>T c.(112-114)Cgt>Tgt p.R38C RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide 38 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) ACCTTAATACGAACTTCATGG 0.348000 20 68 0 0 1 0 0 RNF215 200312 broad.mit.edu 37 22 30780445 30780445 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:30780445G>A ENST00000382363.3 - 5 701 c.627C>T c.(625-627)tcC>tcT p.S209S NM_001017981.1 NP_001017981.1 Q9Y6U7 RN215_HUMAN ring finger protein 215 209 integral to membrane zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2) 6 TGGCAGACAGGGACTCTCCGC 0.612000 23 62 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41018492 41018492 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:41018492C>T ENST00000399564.4 - 27 3164 c.2714G>A c.(2713-2715)aGa>aAa p.R905K MROH2B_ENST00000506092.2_Missense_Mutation_p.R460K NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GGCTCTTTCTCTTTCCCACTC 0.373000 6 15 0 0 1 0 0 TTLL2 83887 broad.mit.edu 37 6 167753838 167753838 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:167753838C>T ENST00000239587.5 + 3 538 c.450C>T c.(448-450)acC>acT p.T150T NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 150 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) ACCCTGGAACCACCAAGCTTA 0.527000 13 74 0 0 1 0 0 NMD3 51068 broad.mit.edu 37 3 160958945 160958945 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:160958945C>T ENST00000460469.1 + 9 1320 c.865C>T c.(865-867)Cta>Tta p.L289L NMD3_ENST00000351193.2_Silent_p.L289L|NMD3_ENST00000472947.1_Silent_p.L289L Q96D46 NMD3_HUMAN NMD3 ribosome export adaptor 289 protein transport cytoplasm|nucleolus|nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) TCCAAACACCCTACAAGGTAA 0.358000 18 82 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179611630 179611630 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:179611630G>A ENST00000360870.5 - 46 15719 c.15497C>T c.(15496-15498)tCa>tTa p.S5166L TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 7083 Ig-like 32. 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) TGTACCAAATGAATCGGAACG 0.398000 38 150 0 0 1 0 0 B3GNT5 84002 broad.mit.edu 37 3 182987826 182987826 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:182987826G>A ENST00000326505.3 + 2 770 c.240G>A c.(238-240)aaG>aaA p.K80K MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000465010.1_Silent_p.K80K|B3GNT5_ENST00000460419.1_Silent_p.K80K NM_032047.4 NP_114436.1 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 80 central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TTAACCACAAGGAAAAGTGTC 0.438000 37 114 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10398257 10398257 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:10398257C>T ENST00000226207.5 - 37 5551 c.5457G>A c.(5455-5457)ctG>ctA p.L1819L CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1819 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CCCTGGCCTCCAGTTTCTGGA 0.512000 49 117 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955510 18955510 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:18955510G>A ENST00000302797.3 - 1 1046 c.822C>T c.(820-822)ttC>ttT p.F274F NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 274 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AGGAGCCCACGAAGAAGTAAA 0.512000 35 53 0 0 1 0 0 AHI1 54806 broad.mit.edu 37 6 135768299 135768299 + Splice_Site SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:135768299C>T ENST00000367800.4 - 11 1843 c.e11-1 AHI1_ENST00000327035.6_Splice_Site|AHI1_ENST00000457866.2_Splice_Site NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) ATGGCTTTATCTAAATATGCA 0.318000 24 60 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173499181 173499181 + Missense_Mutation SNP T T A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:173499181T>A ENST00000367714.3 - 18 2598 c.2176A>T c.(2176-2178)Ata>Tta p.I726L SLC9C2_ENST00000536496.1_3'UTR|SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 726 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity CTTATCAGTATTGGTACTATT 0.358000 31 59 0 0 1 0 0 LELP1 149018 broad.mit.edu 37 1 153177332 153177332 + Missense_Mutation SNP A A G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:153177332A>G ENST00000368747.1 + 2 259 c.149A>G c.(148-150)gAa>gGa p.E50G NM_001010857.1 NP_001010857.1 Q5T871 LELP1_HUMAN late cornified envelope-like proline-rich 1 50 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) TGCCCATGGGAAAAGTGTCCA 0.557000 74 137 0 0 1 0 0 ATP6V0E2 155066 broad.mit.edu 37 7 149575854 149575854 + Nonsense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:149575854G>A ENST00000456496.2 + 3 1338 c.387G>A c.(385-387)tgG>tgA p.W129* ATP6V0E2_ENST00000425642.2_Nonsense_Mutation_p.W80*|ATP6V0E2_ENST00000479613.1_Intron|ATP6V0E2_ENST00000606024.1_Intron|ATP6V0E2_ENST00000421974.2_Intron|ATP6V0E2_ENST00000495408.1_3'UTR|ATP6V0E2_ENST00000464662.1_Nonsense_Mutation_p.W80* NM_145230.2 NP_660265.2 Q8NHE4 VA0E2_HUMAN ATPase, H+ transporting V0 subunit e2 80 ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.00256) GCTTCCTGTGGGAGTGACCCG 0.662000 31 122 0 0 1 0 0 CLPTM1L 81037 broad.mit.edu 37 5 1335173 1335173 + Splice_Site SNP G G T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:1335173G>T ENST00000320895.5 - 6 1052 c.796_splice c.e6+1 p.F265_splice CLPTM1L_ENST00000320927.6_Splice_Site_p.F265_splice|CLPTM1L_ENST00000507807.1_Splice_Site_p.F132_splice NM_030782.3 NP_110409.2 Q96KA5 CLP1L_HUMAN CLPTM1-like 265 apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) GGCACATACCGAACTGCTGCA 0.687000 15 51 7.93312e-07 7.9836e-07 1 1 0 DDX41 51428 broad.mit.edu 37 5 176942259 176942259 + Splice_Site SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:176942259G>A ENST00000507955.1 - 7 1095 c.571_splice c.e7-1 p.A191_splice DDX41_ENST00000506965.1_5'UTR NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 191 A -> T (in Ref. 2; BAA91585). apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) 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;0.191) TCTCAGGATGGCTATGAAAAC 0.522000 33 96 0 0 1 0 0 CLK1 1195 broad.mit.edu 37 2 201719762 201719762 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:201719762G>A ENST00000434813.2 - 10 1565 c.1231C>T c.(1231-1233)Ctt>Ttt p.L411F CLK1_ENST00000409769.2_Missense_Mutation_p.L192F|CLK1_ENST00000321356.4_Missense_Mutation_p.L369F NM_001162407.1 NP_001155879.1 P49759 CLK1_HUMAN CDC-like kinase 1 369 Protein kinase. cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 TATTCAATAAGAATGCATCCT 0.363000 18 94 0 0 1 0 0 PTCH1 5727 broad.mit.edu 37 9 98242860 98242860 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:98242860G>A ENST00000430669.2 - 6 1144 c.559C>T c.(559-561)Cct>Tct p.P187S PTCH1_ENST00000331920.6_Missense_Mutation_p.P253S|PTCH1_ENST00000429896.2_Missense_Mutation_p.P102S|PTCH1_ENST00000418258.1_Missense_Mutation_p.P102S|PTCH1_ENST00000437951.1_Missense_Mutation_p.P187S|PTCH1_ENST00000421141.1_Missense_Mutation_p.P102S|PTCH1_ENST00000375274.2_Missense_Mutation_p.P252S|PTCH1_ENST00000548379.1_5'UTR Q13635 PTC1_HUMAN patched 1 253 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CACCGCAAAGGAGGTTTACCT 0.453000 44 89 0 0 1 0 0 KCNE1 3753 broad.mit.edu 37 21 35821832 35821832 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr21:35821832G>A ENST00000337385.3 - 3 476 c.101C>T c.(100-102)tCc>tTc p.S34F KCNE1_ENST00000432085.1_Missense_Mutation_p.S34F|KCNE1_ENST00000399289.3_Missense_Mutation_p.S34F|KCNE1_ENST00000416357.2_Missense_Mutation_p.S34F|KCNE1_ENST00000399284.1_Missense_Mutation_p.S34F|KCNE1_ENST00000399286.2_Missense_Mutation_p.S34F NM_001270402.1|NM_001270403.1 NP_001257331.1|NP_001257332.1 P15382 KCNE1_HUMAN potassium voltage-gated channel, Isk-related family, member 1 34 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound lysosome delayed rectifier potassium channel activity|potassium channel regulator activity large_intestine(4)|lung(1)|ovary(2) 7 Indapamide(DB00808) GCTGCGGGGGGACCTGCGGGC 0.607000 35 74 0 0 1 0 0 CACNB4 785 broad.mit.edu 37 2 152695712 152695712 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:152695712G>A ENST00000360283.6 - 13 1642 c.1385C>T c.(1384-1386)tCa>tTa p.S462L CACNB4_ENST00000534999.1_Missense_Mutation_p.S461L|CACNB4_ENST00000397327.2_Missense_Mutation_p.S448L|CACNB4_ENST00000201943.5_Missense_Mutation_p.S433L|CACNB4_ENST00000539935.1_Missense_Mutation_p.S495L|CACNB4_ENST00000427385.1_Missense_Mutation_p.S477L O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 subunit 495 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) GTCCTGGTATGAGTCAGGGTA 0.458000 21 52 0 0 1 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95726852 95726852 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:95726852C>T ENST00000324972.6 + 17 2078 c.1885C>T c.(1885-1887)Cgt>Tgt p.R629C DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.R609C|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.R612C|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.R592C|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.R612C NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 629 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) TGTGGAAATTCGTGCTAACAG 0.488000 8 117 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124323139 124323139 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:124323139G>A ENST00000409039.3 + 28 4710 c.4685G>A c.(4684-4686)aGa>aAa p.R1562K NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1562 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GATTCGAAGAGAAATGCTTTC 0.517000 19 193 0 0 1 0 0 HTR1B 3351 broad.mit.edu 37 6 78172544 78172544 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:78172544C>T ENST00000369947.2 - 1 946 c.577G>A c.(577-579)Gaa>Aaa p.E193K NM_000863.1 NP_000854.1 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled 193 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 25 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) ACCTCCTCTTCGGCCTTAGCC 0.592000 46 89 0 0 1 0 0 RPAP2 79871 broad.mit.edu 37 1 92789933 92789933 + Splice_Site SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:92789933G>A ENST00000370343.3 + 8 1564 c.e8+1 NM_024813.2 NP_079089.2 Q8IXW5 RPAP2_HUMAN RNA polymerase II associated protein 2 integral to membrane|nucleus metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 22 all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222) all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115) CTCAGAAGAGGTATGTCTTAC 0.373000 20 55 0 0 1 0 0 UBE2NL 389898 broad.mit.edu 37 X 142967575 142967575 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chrX:142967575G>A ENST00000370494.1 + 1 403 c.373G>A c.(373-375)Gat>Aat p.D125N NM_001012989.1 NP_001013007.1 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 125 acid-amino acid ligase activity breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(192;6.56e-05) ATTAGCAAATGATGTAGTGGA 0.448000 51 46 0 0 1 0 0 STIM1 6786 broad.mit.edu 37 11 4091302 4091302 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:4091302C>T ENST00000300737.4 + 6 1229 c.660C>T c.(658-660)atC>atT p.I220I STIM1_ENST00000533977.1_Silent_p.I47I|STIM1_ENST00000527651.1_Silent_p.I220I NM_003156.3 NP_003147.2 Q13586 STIM1_HUMAN stromal interaction molecule 1 220 activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) TGGTGTCTATCGTTATTGGTG 0.527000 43 67 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113208209 113208209 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:113208209C>T ENST00000401783.2 - 26 4707 c.4371G>A c.(4369-4371)atG>atA p.M1457I SVEP1_ENST00000302728.8_Missense_Mutation_p.M1457I|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.M1434I NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1457 Pentaxin. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CAGAGGATTTCATCCAGAAGG 0.453000 35 89 0 0 1 0 0 ATP6AP1L 92270 broad.mit.edu 37 5 81613845 81613845 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:81613845G>A ENST00000380167.4 + 10 1726 c.401G>A c.(400-402)cGa>cAa p.R134Q ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.R134Q Q52LC2 VAS1L_HUMAN ATPase, H+ transporting, lysosomal accessory protein 1-like 134 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 12 AAGGGGGGACGATTTACCAAA 0.552000 14 55 0 0 1 0 0 CCT6P1 643253 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 4 23 0.0215528 0.0215528 1 1 0 HS3ST1 9957 broad.mit.edu 37 4 11401099 11401099 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:11401099G>A ENST00000002596.5 - 2 1705 c.531C>T c.(529-531)ttC>ttT p.F177F NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 177 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 CGCGCACCAGGAACTCCTCGA 0.592000 22 108 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065699 9065699 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:9065699C>T ENST00000397910.4 - 3 21950 c.21747G>A c.(21745-21747)agG>agA p.R7249R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7251 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 TGCCTGTCTCCCTCAATTTAG 0.488000 32 140 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 120053654 120053654 + Missense_Mutation SNP G G A rs148902327 by1000genomes TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:120053654G>A ENST00000313400.4 - 2 681 c.581C>T c.(580-582)cCc>cTc p.P194L ASTN2_ENST00000361209.2_Missense_Mutation_p.P194L|ASTN2_ENST00000373996.3_Missense_Mutation_p.P194L|ASTN2_ENST00000361477.3_5'UTR O75129 ASTN2_HUMAN astrotactin 2 194 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 AATCTCCGAGGGCTCCTGGAG 0.607000 19 77 0 0 1 0 0 SP100 6672 broad.mit.edu 37 2 231404083 231404083 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:231404083C>T ENST00000340126.4 + 25 2227 c.2196C>T c.(2194-2196)tcC>tcT p.S732S AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA NM_001080391.1 NP_001073860.1 P23497 SP100_HUMAN SP100 nuclear antigen 480 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) ACATCCCATCCGTGGAAGCTA 0.502000 27 53 0 0 1 0 0 OR52B4 143496 broad.mit.edu 37 11 4388918 4388918 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:4388918G>A ENST00000408920.2 - 1 698 c.608C>T c.(607-609)tCc>tTc p.S203F NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) CATTAGAATGGAAAACCCATA 0.383000 23 46 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10886400 10886400 + Missense_Mutation SNP A A T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:10886400A>T ENST00000314646.5 + 4 571 c.407A>T c.(406-408)gAc>gTc p.D136V DNM2_ENST00000585892.1_Missense_Mutation_p.D136V|DNM2_ENST00000408974.4_Missense_Mutation_p.D136V|DNM2_ENST00000389253.4_Missense_Mutation_p.D136V|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000355667.6_Missense_Mutation_p.D136V|DNM2_ENST00000359692.6_Missense_Mutation_p.D136V P50570 DYN2_HUMAN dynamin 2 136 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) ACCCTCATCGACCTCCCGGGT 0.592000 """F, N, Splice, Mis, O""" ETP ALL 8 408 0 0 1 0 0 LY75 4065 broad.mit.edu 37 2 160714933 160714933 + Missense_Mutation SNP T T C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:160714933T>C ENST00000263636.4 - 16 2350 c.2323A>G c.(2323-2325)Att>Gtt p.I775V LY75_ENST00000554112.1_Missense_Mutation_p.I775V|LY75_ENST00000553424.1_Missense_Mutation_p.I775V|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.I775V|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.I775V NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) CTCAAATAAATAAATTCTCTA 0.358000 16 66 0 0 1 0 0 GPR113 165082 broad.mit.edu 37 2 26534617 26534617 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:26534617C>T ENST00000333478.6 - 8 1964 c.1382G>A c.(1381-1383)cGa>cAa p.R461Q GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Missense_Mutation_p.R263Q|GPR113_ENST00000421160.2_Missense_Mutation_p.R591Q|GPR113_ENST00000311519.1_Missense_Mutation_p.R660Q NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 660 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCCAGTTTTCGCAGCACCAG 0.547000 17 25 0 0 1 0 0 ITGA3 3675 broad.mit.edu 37 17 48151560 48151560 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:48151560C>T ENST00000320031.8 + 9 1628 c.1298C>T c.(1297-1299)tCc>tTc p.S433F ITGA3_ENST00000544892.1_Missense_Mutation_p.S208F|ITGA3_ENST00000007722.7_Missense_Mutation_p.S433F NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 433 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 TTCGGCTATTCCCTCAGTGGG 0.612000 89 125 0 0 1 0 0 RRAD 6236 broad.mit.edu 37 16 66956215 66956215 + Nonsense_Mutation SNP C C A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:66956215C>A ENST00000299759.6 - 5 941 c.691G>T c.(691-693)Gag>Tag p.E231* RRAD_ENST00000420652.1_Nonsense_Mutation_p.E231* P55042 RAD_HUMAN Ras-related associated with diabetes 231 small GTPase mediated signal transduction plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198) GCTGATGTCTCAATGAACTTG 0.592000 31 81 5.8336e-16 5.93364e-16 1 1 0 TYRP1 7306 broad.mit.edu 37 9 12695537 12695537 + Silent SNP A A G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:12695537A>G ENST00000388918.5 + 3 537 c.408A>G c.(406-408)ttA>ttG p.L136L TYRP1_ENST00000381137.2_5'UTR NM_000550.2 NP_000541.1 P17643 TYRP1_HUMAN tyrosinase-related protein 1 136 melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1) 22 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) TTCTGGACTTAAGTAAAGAAG 0.423000 Oculocutaneous Albinism 36 50 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79031486 79031486 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:79031486G>A ENST00000446378.2 + 2 6929 c.6898G>A c.(6898-6900)Gaa>Aaa p.E2300K NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2300 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CGATTCAGAGGAAATGAACAT 0.348000 26 83 0 0 1 0 0 PNLDC1 154197 broad.mit.edu 37 6 160240152 160240152 + Splice_Site SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:160240152G>A ENST00000275275.5 + 17 1570 c.1400_splice c.e17+1 p.D467_splice PNLDC1_ENST00000392167.3_Splice_Site_p.D478_splice NM_001271862.1|NM_173516.1 NP_001258791.1|NP_775787.1 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain containing 1 467 integral to membrane|nucleus nucleic acid binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TAAGTTTAAGGAGTAGGTGCC 0.537000 47 58 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231135334 231135334 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:231135334G>A ENST00000392045.3 + 15 1592 c.1478G>A c.(1477-1479)gGa>gAa p.G493E SP140_ENST00000343805.6_Missense_Mutation_p.G433E|SP140_ENST00000417495.3_Missense_Mutation_p.G379E|SP140_ENST00000350136.5_Missense_Mutation_p.G362E|SP140_ENST00000420434.3_Missense_Mutation_p.G466E|SP140_ENST00000486687.2_Missense_Mutation_p.G417E NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 493 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TCCACTTTGGGAAAACCCAAG 0.289000 15 80 0 0 1 0 0 OR11L1 391189 broad.mit.edu 37 1 248004680 248004680 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:248004680C>T ENST00000355784.2 - 1 574 c.519G>A c.(517-519)caG>caA p.Q173Q NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AATGGTTAATCTGATTGCGCC 0.537000 51 128 0 0 1 0 0 SMYD1 150572 broad.mit.edu 37 2 88367411 88367411 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:88367411G>A ENST00000419482.2 + 1 113 c.28G>A c.(28-30)Gag>Aag p.E10K SMYD1_ENST00000444564.2_Missense_Mutation_p.E10K|SMYD1_ENST00000438570.1_Missense_Mutation_p.E10K NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 10 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 GGAGAACGTGGAGGTCTTCAC 0.522000 44 314 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27089607 27089607 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:27089607C>T ENST00000324856.7 + 8 2934 c.2563C>T c.(2563-2565)Cca>Tca p.P855S ARID1A_ENST00000457599.2_Missense_Mutation_p.P855S|ARID1A_ENST00000374152.2_Missense_Mutation_p.P472S NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 855 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CACACTCCCTCCAGGGAGGAT 0.602000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 20 139 0 0 1 0 0 MANBA 4126 broad.mit.edu 37 4 103556037 103556037 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:103556037G>A ENST00000226578.4 - 16 2422 c.2323C>T c.(2323-2325)Ctt>Ttt p.L775F MANBA_ENST00000505239.1_Missense_Mutation_p.L718F NM_005908.3 NP_005899.3 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal 775 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) TCAGCTGAAAGGTAAAAGGAA 0.537000 21 78 0 0 1 0 0 CIRH1A 84916 broad.mit.edu 37 16 69184445 69184445 + Silent SNP A A G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:69184445A>G ENST00000563094.1 + 7 778 c.744A>G c.(742-744)gaA>gaG p.E248E CIRH1A_ENST00000569615.2_3'UTR|CIRH1A_ENST00000352319.4_Silent_p.E248E|CIRH1A_ENST00000314423.7_Silent_p.E248E Q969X6 CIR1A_HUMAN cirrhosis, autosomal recessive 1A (cirhin) 248 nucleolus protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(108;0.125) CTCAGCAAGAAGACAGTTTCG 0.488000 OREG0023906 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 77 184 0 0 1 0 0 ACE2 59272 broad.mit.edu 37 X 15596435 15596435 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chrX:15596435G>A ENST00000427411.1 - 10 1290 c.1074C>T c.(1072-1074)atC>atT p.I358I ACE2_ENST00000252519.3_Silent_p.I358I NM_021804.2 NP_068576.1 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 358 angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 32 Hepatocellular(33;0.183) Moexipril(DB00691) TGCACATAAGGATCCTGCATG 0.413000 15 10 0 0 1 0 0 DCAF11 80344 broad.mit.edu 37 14 24590672 24590672 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:24590672C>T ENST00000446197.3 + 13 2072 c.1345C>T c.(1345-1347)Cat>Tat p.H449Y DCAF11_ENST00000396941.4_Missense_Mutation_p.H423Y|DCAF11_ENST00000559115.1_Missense_Mutation_p.H449Y|RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.S38L|DCAF11_ENST00000396936.1_Missense_Mutation_p.H349Y NM_025230.4 NP_079506.3 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 449 CUL4 RING ubiquitin ligase complex protein binding CTCCCCCATTCATAGCACTGG 0.597000 29 51 0 0 1 0 0 PRKG2 5593 broad.mit.edu 37 4 82073145 82073145 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:82073145C>T ENST00000395578.1 - 8 1170 c.1054G>A c.(1054-1056)Gga>Aga p.G352R PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.G352R|PRKG2_ENST00000264399.1_Missense_Mutation_p.G352R Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 352 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 AAGTATTCTCCTTTCTGCAGT 0.328000 49 152 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50929253 50929253 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr18:50929253G>A ENST00000442544.2 + 19 3541 c.2925G>A c.(2923-2925)ggG>ggA p.G975G DCC_ENST00000412726.1_Silent_p.G803G|DCC_ENST00000581580.1_Silent_p.G610G NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 975 Fibronectin type-III 6. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AAGCCAATGGGAAAATTACTG 0.532000 70 149 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117724304 117724304 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:117724304C>T ENST00000368508.3 - 6 773 c.575G>A c.(574-576)gGa>gAa p.G192E GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.G201E NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 192 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) CACCATACCTCCATGAGGATG 0.408000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 44 84 0 0 1 0 0 MFSD7 84179 broad.mit.edu 37 4 679663 679663 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:679663G>A ENST00000322224.4 - 4 859 c.546C>T c.(544-546)tcC>tcT p.S182S MFSD7_ENST00000503156.1_Silent_p.S118S|MFSD7_ENST00000347950.5_Intron|MFSD7_ENST00000515118.1_Intron|MFSD7_ENST00000404286.2_Silent_p.S182S Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 7 182 transmembrane transport integral to membrane cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 11 CCAGCACAGGGGACAGCACAT 0.612000 25 73 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105411430 105411430 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:105411430G>A ENST00000333244.5 - 7 10477 c.10358C>T c.(10357-10359)gCg>gTg p.A3453V AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3453 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTCCAGCCGCGCACCATCCAG 0.597000 6 418 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54435225 54435225 + Silent SNP T T A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr15:54435225T>A ENST00000537900.1 + 2 2994 c.2994T>A c.(2992-2994)tcT>tcA p.S998S UNC13C_ENST00000545554.1_Intron|UNC13C_ENST00000260323.11_Silent_p.S998S Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 998 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ATAGCAGTTCTGTGGATGAAA 0.323000 28 98 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61610449 61610449 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:61610449G>A ENST00000398571.2 - 6 852 c.776C>T c.(775-777)cCc>cTc p.P259L NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 259 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) CATGACAGCGGGAATATGTAG 0.274000 19 43 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158914763 158914763 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:158914763C>T ENST00000368140.1 + 7 1535 c.1290C>T c.(1288-1290)acC>acT p.T430T PYHIN1_ENST00000392252.3_Silent_p.T421T|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Silent_p.T430T|PYHIN1_ENST00000368138.3_Silent_p.T421T NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 430 cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) CCAGCACAACCCTACCTGAAA 0.498000 54 102 0 0 1 0 0 ZNF528 84436 broad.mit.edu 37 19 52919816 52919816 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:52919816C>T ENST00000360465.3 + 7 2137 c.1711C>T c.(1711-1713)Cat>Tat p.H571Y ZNF528_ENST00000391788.2_3'UTR NM_032423.2 NP_115799.2 Q3MIS6 ZN528_HUMAN zinc finger protein 528 571 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) TCTTGCAATCCATACTGAAAA 0.413000 23 78 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23802485 23802485 + Missense_Mutation SNP A A C rs113486572 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:23802485A>C ENST00000354639.3 + 11 1754 c.1290A>C c.(1288-1290)gaA>gaC p.E430D STK31_ENST00000428484.1_Missense_Mutation_p.E430D|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.E453D|STK31_ENST00000433467.2_Missense_Mutation_p.E453D NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 453 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TGTCAGTAGAAGATTTTATTC 0.299000 31 99 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31226315 31226315 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr18:31226315G>A ENST00000269197.5 + 4 353 c.353G>A c.(352-354)gGa>gAa p.G118E NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GAAGAAAATGGAGGTAAGTGT 0.388000 20 58 0 0 1 0 0 RABL6 55684 broad.mit.edu 37 9 139734199 139734199 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:139734199C>T ENST00000371675.3 + 13 2352 c.1467C>T c.(1465-1467)ggC>ggT p.G489G RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_Silent_p.G605G|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_Silent_p.G604G RAB, member RAS oncogene family-like 6 AGGATGAGGGCCCTGCCGAGC 0.657000 41 77 0 0 1 0 0 LMOD1 25802 broad.mit.edu 37 1 201869748 201869748 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:201869748C>T ENST00000367288.4 - 2 639 c.393G>A c.(391-393)aaG>aaA p.K131K NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 131 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 AGAAGCTTTTCTTTAAACCAC 0.562000 78 160 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197172675 197172675 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:197172675C>T ENST00000260983.2 - 11 2751 c.2569G>A c.(2569-2571)Gag>Aag p.E857K HECW2_ENST00000409111.1_Missense_Mutation_p.E501K NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 857 Interaction with TP73. 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 TTCAGCTGCTCCATTTGCTGT 0.507000 23 93 0 0 1 0 0 NDUFAF3 25915 broad.mit.edu 37 3 49060174 49060174 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:49060174C>T ENST00000326925.6 + 3 1444 c.310C>T c.(310-312)Ctc>Ttc p.L104F NDUFAF3_ENST00000395458.2_Missense_Mutation_p.L47F|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.L47F|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.L47F NM_199069.1 NP_951032.1 Q9BU61 NDUF3_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 3 104 mitochondrial respiratory chain complex I assembly mitochondrial inner membrane|nucleus protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4) 8 CAGCTTTTCCCTCTTCTGGTT 0.587000 92 136 0 0 1 0 0 ITGB7 3695 broad.mit.edu 37 12 53586521 53586521 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:53586521G>A ENST00000267082.5 - 13 2131 c.1900C>T c.(1900-1902)Cta>Tta p.L634L ITGB7_ENST00000422257.3_Silent_p.L634L|ITGB7_ENST00000338737.4_Intron|ITGB7_ENST00000550743.2_Intron NM_000889.1 NP_000880.1 P26010 ITB7_HUMAN integrin, beta 7 634 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TGGTCGCATAGAGCACCATAG 0.602000 40 81 0 0 1 0 0 XKR3 150165 broad.mit.edu 37 22 17280810 17280810 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:17280810C>T ENST00000331428.5 - 3 542 c.440G>A c.(439-441)aGg>aAg p.R147K NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 147 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TGCAATCTCCCTTTCCAGCAT 0.393000 63 174 0 0 1 0 0 LRRC31 79782 broad.mit.edu 37 3 169574279 169574279 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:169574279G>A ENST00000316428.5 - 5 725 c.668C>T c.(667-669)cCt>cTt p.P223L LRRC31_ENST00000523069.1_Missense_Mutation_p.P223L|LRRC31_ENST00000264676.5_Missense_Mutation_p.P167L|LRRC31_ENST00000397805.2_5'UTR NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 223 p.P223H(1) cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) TTGCAGCATAGGTAGCAGTTG 0.428000 31 69 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98742090 98742090 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr10:98742090C>T ENST00000286067.2 + 1 1050 c.943C>T c.(943-945)Cct>Tct p.P315S NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 315 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) TGCTCACCTTCCTGAAGAGGA 0.567000 46 61 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50451649 50451649 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr18:50451649C>T ENST00000442544.2 + 5 1510 c.894C>T c.(892-894)tcC>tcT p.S298S DCC_ENST00000412726.1_Silent_p.S146S NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 298 Ig-like C2-type 3. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TGCTTATCTCCAATGTGACAG 0.373000 47 125 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70346451 70346451 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:70346451G>A ENST00000305107.6 - 6 1534 c.1488C>T c.(1486-1488)ttC>ttT p.F496F UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Silent_p.F360F|UGT2B4_ENST00000512583.1_3'UTR NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 496 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 AGGCCAGCAGGAACCCAGTCA 0.468000 91 198 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70935679 70935679 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:70935679G>A ENST00000357250.6 - 37 2695 c.2537C>T c.(2536-2538)cCa>cTa p.P846L COL9A1_ENST00000370499.4_Missense_Mutation_p.P603L|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000320755.7_Missense_Mutation_p.P603L|COL9A1_ENST00000489611.1_5'UTR NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 846 Triple-helical region (COL1). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 ACCTCTTCCTGGAGGGCCACG 0.438000 16 116 0 0 1 0 0 PBXIP1 57326 broad.mit.edu 37 1 154919033 154919033 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:154919033C>T ENST00000368463.3 - 10 1188 c.1117G>A c.(1117-1119)Gag>Aag p.E373K PBXIP1_ENST00000539880.1_Missense_Mutation_p.E200K|PBXIP1_ENST00000368465.1_Missense_Mutation_p.E344K|PBXIP1_ENST00000542459.1_Missense_Mutation_p.E218K NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 373 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGCTCCTGCTCCCTGGGGCCT 0.642000 37 142 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 340284 340284 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:340284C>T ENST00000432829.2 + 14 1754 c.1438C>T c.(1438-1440)Cca>Tca p.P480S DOCK8_ENST00000453981.1_Missense_Mutation_p.P548S|DOCK8_ENST00000469391.1_Missense_Mutation_p.P480S NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 548 DHR-1. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TTTGGAATTTCCAACACGAGA 0.498000 25 56 0 0 1 0 0 PSMB4 5692 broad.mit.edu 37 1 151372152 151372152 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:151372152C>T ENST00000290541.6 + 1 143 c.89C>T c.(88-90)tCc>tTc p.S30F NM_002796.2 NP_002787.2 P28070 PSB4_HUMAN proteasome (prosome, macropain) subunit, beta type, 4 30 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1) 14 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ACTCCCGATTCCTTCATGGAT 0.607000 68 232 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43250912 43250912 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:43250912G>A ENST00000259750.4 + 14 2517 c.2434G>A c.(2434-2436)Gat>Aat p.D812N NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 812 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) GCTGGCAGACGATCAGAAGGA 0.667000 5 3 0 0 1 0 0 KIF3B 9371 broad.mit.edu 37 20 30898119 30898119 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr20:30898119C>T ENST00000375712.3 + 2 706 c.539C>T c.(538-540)tCt>tTt p.S180F NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 180 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) AAAGACCTGTCTTCCTTTGTC 0.493000 51 73 0 0 1 0 0 COG7 91949 broad.mit.edu 37 16 23424780 23424780 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:23424780C>T ENST00000307149.5 - 10 1583 c.1398G>A c.(1396-1398)caG>caA p.Q466Q NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 466 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) TAATGGAGTTCTGAAAAGCCG 0.423000 24 134 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25299426 25299426 + RNA SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr15:25299426C>T ENST00000549804.2 + 0 98 SNORD116-2_ENST00000384274.1_RNA|SNHG14_ENST00000547292.1_RNA AAACTCATACCGTCATTCTCA 0.493000 83 223 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24488044 24488044 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:24488044G>A ENST00000264463.4 - 12 2602 c.2095C>T c.(2095-2097)Cgg>Tgg p.R699W CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 699 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GGAGTCCTCCGAGGAATAAAT 0.502000 HNSCC(23;0.051) 17 63 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14868973 14868973 + Translation_Start_Site SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:14868973C>T ENST00000380881.4 - 3 818 c.3G>A c.(1-3)atG>atA p.M1I FREM1_ENST00000422223.2_Start_Codon_SNP_p.M1I|FREM1_ENST00000380880.3_Start_Codon_SNP_p.M1I Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TCAGAGAGTTCATGCTGACAG 0.602000 4 14 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10299769 10299769 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:10299769C>T ENST00000403437.2 - 33 4625 c.4531G>A c.(4531-4533)Gag>Aag p.E1511K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1511 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 TCAGAAATCTCCTCTGTGGTT 0.438000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 10 36 0 0 1 0 0 CLIP2 7461 broad.mit.edu 37 7 73790392 73790392 + Missense_Mutation SNP A A C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:73790392A>C ENST00000223398.6 + 10 1988 c.1661A>C c.(1660-1662)aAg>aCg p.K554T CLIP2_ENST00000361545.5_Missense_Mutation_p.K519T|CLIP2_ENST00000395060.1_Missense_Mutation_p.K554T NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 554 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 TCGGCCAGCAAGGAACACCAG 0.667000 16 36 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25477438 25477438 + RNA SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr15:25477438C>T ENST00000453082.2 + 0 1660 NR_003343.1 CGCTGAAGCTCAAGCCTTTCC 0.617000 28 97 0 0 1 0 0 NMUR1 10316 broad.mit.edu 37 2 232393552 232393552 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:232393552G>A ENST00000305141.4 - 2 313 c.180C>T c.(178-180)ttC>ttT p.F60F NM_006056.4 NP_006047.3 Q9HB89 NMUR1_HUMAN neuromedin U receptor 1 60 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1) 24 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) AGATGGGCATGAACAGCTCTG 0.612000 10 79 0 0 1 0 0 MOCS2 4338 broad.mit.edu 37 5 52404428 52404428 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:52404428G>A ENST00000361377.4 - 2 105 c.64C>T c.(64-66)Cgt>Tgt p.R22C MOCS2_ENST00000508922.1_Missense_Mutation_p.R22C|MOCS2_ENST00000396954.3_5'UTR|MOCS2_ENST00000510818.2_Missense_Mutation_p.R22C|MOCS2_ENST00000450852.3_Missense_Mutation_p.R22C|MOCS2_ENST00000584946.1_Missense_Mutation_p.R22C|MOCS2_ENST00000582677.1_Missense_Mutation_p.R22C O96033 MOC2A_HUMAN molybdenum cofactor synthesis 2 22 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex nucleotide binding endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(810;3.08e-05)|Breast(144;0.0848) GTCTCTGAACGAACTCCTGTT 0.363000 10 46 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102307351 102307351 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:102307351C>T ENST00000369138.1 + 10 1997 c.1507C>T c.(1507-1509)Cgt>Tgt p.R503C GRIK2_ENST00000413795.1_Missense_Mutation_p.R503C|GRIK2_ENST00000369134.4_Missense_Mutation_p.R454C|GRIK2_ENST00000421544.1_Missense_Mutation_p.R503C|GRIK2_ENST00000318991.6_Missense_Mutation_p.R503C|GRIK2_ENST00000369137.3_Missense_Mutation_p.R503C NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 503 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TGGAATGGTTCGTGAACTAAT 0.358000 24 66 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107601010 107601010 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:107601010C>T ENST00000393561.1 - 16 2450 c.2266G>A c.(2266-2268)Gaa>Aaa p.E756K LAMB1_ENST00000393560.1_Missense_Mutation_p.E732K|LAMB1_ENST00000222399.6_Missense_Mutation_p.E732K P07942 LAMB1_HUMAN laminin, beta 1 732 Laminin IV type B. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGAAAGGTTTCCCAGGCACTG 0.463000 12 125 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75844494 75844494 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:75844494G>A ENST00000322507.8 - 32 5781 c.5472C>T c.(5470-5472)tcC>tcT p.S1824S COL12A1_ENST00000483888.2_Silent_p.S1824S|COL12A1_ENST00000416123.2_Silent_p.S1824S|COL12A1_ENST00000345356.6_Silent_p.S660S NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1824 Fibronectin type-III 13. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GATACAGAGAGGATACGGTGA 0.463000 31 65 0 0 1 0 0 FAM117B 150864 broad.mit.edu 37 2 203620288 203620288 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:203620288C>T ENST00000303116.6 + 5 998 c.256C>T c.(256-258)Cct>Tct p.P86S FAM117B_ENST00000392238.2_Missense_Mutation_p.P330S NM_173511.3 NP_775782.2 Q6P1L5 F117B_HUMAN family with sequence similarity 117, member B 330 Gly-rich. breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 TGCACTTATTCCTGTAATTCC 0.408000 33 180 0 0 1 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48596442 48596442 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:48596442G>A ENST00000323776.5 + 6 1051 c.889G>A c.(889-891)Gat>Aat p.D297N MYCBPAP_ENST00000436259.2_Missense_Mutation_p.D260N NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 260 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) AACCCGGCGTGATAGGAAAGT 0.627000 41 64 0 0 1 0 0 AXIN1 8312 broad.mit.edu 37 16 338149 338149 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:338149G>A ENST00000262320.3 - 11 2933 c.2562C>T c.(2560-2562)atC>atT p.I854I AXIN1_ENST00000354866.3_Silent_p.I818I NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 854 DIX. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) CTTTGCCGATGATCTTCTCCT 0.602000 79 179 0 0 1 0 0 C19orf18 147685 broad.mit.edu 37 19 58477955 58477955 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:58477955G>A ENST00000314391.3 - 4 415 c.314C>T c.(313-315)tCg>tTg p.S105L NM_152474.4 NP_689687.1 Q8NEA5 CS018_HUMAN chromosome 19 open reading frame 18 105 integral to membrane p.S105L(1) large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 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;0.017) GGCTACGCTCGAAATTAAAAT 0.348000 14 43 0 0 1 0 0 GIMAP1 170575 broad.mit.edu 37 7 150416142 150416142 + Missense_Mutation SNP G G C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:150416142G>C ENST00000307194.5 + 2 147 c.7G>C c.(7-9)Gga>Cga p.G3R NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAGCATGGGAGGAAGGAAGAT 0.413000 14 163 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2675610 2675610 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:2675610C>T ENST00000399655.1 + 12 1796 c.1531C>T c.(1531-1533)Cgg>Tgg p.R511W CACNA1C_ENST00000399644.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R511W|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R511W|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R536W|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R511W|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R511W|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R511W|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R511W 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 511 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) CCGGTGGAATCGGTTCTGCAG 0.562000 7 10 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76872039 76872039 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:76872039C>T ENST00000409709.3 + 12 1493 c.1221C>T c.(1219-1221)ttC>ttT p.F407F MYO7A_ENST00000409619.2_Silent_p.F396F|MYO7A_ENST00000409893.1_Silent_p.F407F|MYO7A_ENST00000458637.2_Silent_p.F407F NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 407 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 GGCGGCTGTTCGTGTGGATTG 0.602000 6 11 0 0 1 0 0 FBXO18 84893 broad.mit.edu 37 10 5951200 5951200 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr10:5951200C>T ENST00000379999.5 + 6 1220 c.1116C>T c.(1114-1116)ctC>ctT p.L372L FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Silent_p.L321L|FBXO18_ENST00000379994.1_Silent_p.L58L NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 321 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 ACCCCCTCCTCCCCGAGGCTG 0.612000 42 55 0 0 1 0 0 LPO 4025 broad.mit.edu 37 17 56342325 56342325 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:56342325G>A ENST00000262290.4 + 10 1825 c.1509G>A c.(1507-1509)atG>atA p.M503I LPO_ENST00000421678.2_Missense_Mutation_p.M420I|LPO_ENST00000543544.1_Missense_Mutation_p.M444I|LPO_ENST00000582328.1_Missense_Mutation_p.M420I NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 503 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 CTTGGAGGATGGTCAAAGATG 0.532000 13 61 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2027417 2027417 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:2027417C>T ENST00000382722.5 - 1 585 c.223G>A c.(223-225)Gaa>Aaa p.E75K CACNA2D4_ENST00000585732.1_Missense_Mutation_p.E75K|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E75K|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E75K|RP5-1096D14.3_ENST00000544163.1_RNA NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 75 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GCTTACGTTTCCAGAGGAATC 0.632000 5 21 0 0 1 0 0 SPR 6697 broad.mit.edu 37 2 73118518 73118518 + Missense_Mutation SNP C C A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:73118518C>A ENST00000234454.5 + 3 711 c.638C>A c.(637-639)tCc>tAc p.S213Y SPR_ENST00000498749.1_3'UTR NM_003124.4 NP_003115.1 P35270 SPRE_HUMAN sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) 213 nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process cytoplasm aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity lung(4)|ovary(2) 6 CGGGAGACCTCCGTGGACCCA 0.562000 24 93 3.65163e-15 3.71027e-15 1 1 0 SUCLG2 8801 broad.mit.edu 37 3 67568738 67568738 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:67568738C>T ENST00000307227.5 - 6 620 c.593G>A c.(592-594)gGa>gAa p.G198E SUCLG2_ENST00000492795.1_Missense_Mutation_p.G198E|SUCLG2_ENST00000493112.1_Missense_Mutation_p.G198E NM_003848.3 NP_003839.2 Q96I99 SUCB2_HUMAN succinate-CoA ligase, GDP-forming, beta subunit 198 ATP-grasp. succinyl-CoA metabolic process|tricarboxylic acid cycle mitochondrial matrix ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 10 Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121) BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153) Succinic acid(DB00139) GTCCTTTATTCCTTCAAAAAT 0.393000 11 124 0 0 1 0 0 BCL2L12 83596 broad.mit.edu 37 19 50169131 50169131 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:50169131C>T ENST00000246785.3 + 1 309 c.51C>T c.(49-51)ttC>ttT p.F17F BCL2L12_ENST00000246784.3_Silent_p.F17F|IRF3_ENST00000377139.3_5'UTR|BCL2L12_ENST00000441864.2_Silent_p.F17F NM_001040668.1|NM_138639.1 NP_001035758.1|NP_619580.1 Q9HB09 B2L12_HUMAN BCL2-like 12 (proline rich) 17 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) TTTTGGGTTTCCGGCCAGAGG 0.572000 19 68 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140257298 140257298 + Silent SNP T T C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:140257298T>C ENST00000398631.2 + 1 2241 c.2241T>C c.(2239-2241)agT>agC p.S747S PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_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) CCGTGGGGAGTTGGTCTTACT 0.677000 10 49 0 0 1 0 0 BRINP2 57795 broad.mit.edu 37 1 177249650 177249650 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:177249650C>T ENST00000361539.4 + 8 1650 c.1338C>T c.(1336-1338)ccC>ccT p.P446P FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 446 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 GCACCTGCCCCTATGACCAAT 0.602000 9 78 0 0 1 0 0 FEZF1 389549 broad.mit.edu 37 7 121943798 121943798 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:121943798C>T ENST00000442488.2 - 1 761 c.694G>A c.(694-696)Gaa>Aaa p.E232K FEZF1_ENST00000427185.2_Missense_Mutation_p.E182K|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.E232K NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 232 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 TGGGCGCTTTCTTTCATGTAA 0.507000 101 161 0 0 1 0 0 AP2B1 163 broad.mit.edu 37 17 33998878 33998878 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:33998878G>A ENST00000262325.7 + 15 2648 c.2095G>A c.(2095-2097)Ggg>Agg p.G699R AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.G713R|AP2B1_ENST00000312678.8_Missense_Mutation_p.G713R|AP2B1_ENST00000589344.1_Missense_Mutation_p.G713R|AP2B1_ENST00000592545.1_Missense_Mutation_p.G675R|AP2B1_ENST00000538556.1_Missense_Mutation_p.G642R NM_001282.2 NP_001273.1 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 subunit 699 Pro-rich (stalk region). axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) ACTCTCCACAGGGATAGGCAT 0.478000 63 119 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 72889418 72889418 + Silent SNP A A T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:72889418A>T ENST00000264839.7 + 5 612 c.612A>T c.(610-612)gtA>gtT p.V204V RIMS1_ENST00000348717.5_Silent_p.V204V|RIMS1_ENST00000521978.1_Silent_p.V204V|RIMS1_ENST00000520567.1_Silent_p.V204V|RIMS1_ENST00000518273.1_Silent_p.V204V|RIMS1_ENST00000517960.1_Silent_p.V204V|RIMS1_ENST00000522291.1_Silent_p.V204V|RIMS1_ENST00000491071.2_Silent_p.V204V Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 204 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) GCTCTGAGGTACCAAGAGAAA 0.557000 38 99 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 187003629 187003629 + Missense_Mutation SNP T T A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:187003629T>A ENST00000337774.5 - 2 610 c.221A>T c.(220-222)gAa>gTa p.E74V MASP1_ENST00000169293.6_Missense_Mutation_p.E74V|MASP1_ENST00000392472.2_Intron|MASP1_ENST00000296280.6_Missense_Mutation_p.E74V|MASP1_ENST00000392470.2_Missense_Mutation_p.E48V|MASP1_ENST00000495249.1_Intron NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 74 CUB 1.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2. 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) ATAGTCATATTCACAAAGGTA 0.463000 16 114 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42335930 42335930 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:42335930C>T ENST00000262418.6 - 10 1093 c.938G>A c.(937-939)gGc>gAc p.G313D AC003043.1_ENST00000597382.1_Intron NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 313 bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) GTCCAGGAAGCCCTCTAGGGA 0.647000 27 54 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122001021 122001021 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:122001021G>A ENST00000498619.1 + 6 2138 c.1700G>A c.(1699-1701)gGg>gAg p.G567E CASR_ENST00000490131.1_Missense_Mutation_p.G557E|CASR_ENST00000296154.5_Missense_Mutation_p.G557E NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 557 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) ATCATTGAGGGGGAGCCCACC 0.577000 69 187 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 136901482 136901482 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:136901482G>A ENST00000359015.4 - 25 3834 c.3474C>T c.(3472-3474)atC>atT p.I1158I MAP3K5_ENST00000355845.4_Silent_p.I405I|MAP3K5_ENST00000463140.1_5'UTR NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 1158 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) CCTTCCGAATGATACTGTCTA 0.393000 18 54 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195488399 195488399 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:195488399G>A ENST00000463781.3 - 15 15029 c.14570C>T c.(14569-14571)cCc>cTc p.P4857L MUC4_ENST00000475231.1_Missense_Mutation_p.P4805L|MUC4_ENST00000346145.4_Missense_Mutation_p.P621L|MUC4_ENST00000349607.4_Missense_Mutation_p.P570L NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1614 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GCTCCCTGGGGGAATGGTGGA 0.607000 60 149 0 0 1 0 0 HMGCS2 3158 broad.mit.edu 37 1 120301771 120301771 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:120301771G>A ENST00000369406.3 - 4 869 c.820C>T c.(820-822)Cgt>Tgt p.R274C HMGCS2_ENST00000476640.1_Intron|HMGCS2_ENST00000544913.2_Missense_Mutation_p.R232C NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 274 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) ATTTTTTTACGGTATGATGTG 0.468000 54 144 0 0 1 0 0 RHAG 6005 broad.mit.edu 37 6 49578814 49578814 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:49578814G>A ENST00000371175.4 - 7 1016 c.990C>T c.(988-990)gtC>gtT p.V330V RHAG_ENST00000229810.7_Intron NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh-associated glycoprotein 330 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) GGAGGTTATGGACCCCACATG 0.418000 25 142 0 0 1 0 0 TCEA2 6919 broad.mit.edu 37 20 62701677 62701677 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr20:62701677C>T ENST00000361317.2 + 8 943 c.501C>T c.(499-501)tcC>tcT p.S167S TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Silent_p.S194S NM_198723.1 NP_942016.1 Q15560 TCEA2_HUMAN transcription elongation factor A (SII), 2 194 TFIIS central. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent transcription elongation factor complex DNA binding|protein binding|translation elongation factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7) 12 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) GTCGTATCTCCAACCTGAAGG 0.542000 37 148 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215809747 215809747 + Missense_Mutation SNP A A G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:215809747A>G ENST00000272895.7 - 49 7540 c.7321T>C c.(7321-7323)Tcc>Ccc p.S2441P AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.S2123P NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2441 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AGGATGACGGAACATTTGTTC 0.433000 11 25 0 0 1 0 0 SGMS1 259230 broad.mit.edu 37 10 52071085 52071085 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr10:52071085C>T ENST00000361781.2 - 9 1791 c.832G>A c.(832-834)Ggg>Agg p.G278R SGMS1_ENST00000429490.1_Missense_Mutation_p.G109R NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 284 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 AGATAGTCCCCACACATGTTG 0.453000 29 45 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13824400 13824400 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:13824400G>A ENST00000265104.4 - 39 6591 c.6487C>T c.(6487-6489)Cgg>Tgg p.R2163W NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2163 AAA 1 (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) CCCAAGGTCCGAAGAACTGAC 0.423000 Kartagener syndrome 13 56 0 0 1 0 0 FAM73A 374986 broad.mit.edu 37 1 78325006 78325006 + Missense_Mutation SNP A A T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:78325006A>T ENST00000370791.3 + 10 1155 c.1123A>T c.(1123-1125)Atg>Ttg p.M375L FAM73A_ENST00000443751.2_Missense_Mutation_p.M337L NM_001270384.1|NM_198549.3 NP_001257313.1|NP_940951.1 Q8NAN2 FA73A_HUMAN family with sequence similarity 73, member A 375 integral to membrane breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) TAGAACTGAAATGTTGGAGTG 0.378000 33 101 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156618049 156618049 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:156618049G>A ENST00000296518.7 + 3 239 c.30G>A c.(28-30)aaG>aaA p.K10K GUCY1A3_ENST00000513574.1_Silent_p.K10K|GUCY1A3_ENST00000515602.1_Intron|GUCY1A3_ENST00000511108.1_Silent_p.K10K|GUCY1A3_ENST00000511507.1_Silent_p.K10K|GUCY1A3_ENST00000393832.3_Intron|GUCY1A3_ENST00000455639.2_Silent_p.K10K|GUCY1A3_ENST00000506455.1_Silent_p.K10K Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 10 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) AGGATCTCAAGATCACAGGAG 0.502000 35 46 0 0 1 0 0 DPPA3 359787 broad.mit.edu 37 12 7867947 7867947 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:7867947G>A ENST00000345088.2 + 2 368 c.251G>A c.(250-252)gGa>gAa p.G84E NM_199286.2 NP_954980.1 Q6W0C5 DPPA3_HUMAN developmental pluripotency associated 3 84 cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2) 8 Kidney(36;0.0887) AGCAGGAGAGGAGTAAGAACA 0.493000 18 50 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13719166 13719166 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:13719166G>A ENST00000265104.4 - 72 12428 c.12324C>T c.(12322-12324)ttC>ttT p.F4108F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4108 AAA 6 (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) GCTCATCCATGAAATCAAGTC 0.443000 Kartagener syndrome 18 52 0 0 1 0 0 ZNF112 7665 broad.mit.edu 37 19 44832101 44832101 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:44832101G>A ENST00000354340.4 - 4 2260 c.2209C>T c.(2209-2211)Cac>Tac p.H737Y ZNF112_ENST00000337401.4_Missense_Mutation_p.H743Y|ZNF112_ENST00000536500.1_Missense_Mutation_p.H760Y NM_013380.3 NP_037512.3 zinc finger protein 112 ACTCTAGTGTGGACTCTCTGA 0.473000 61 245 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168105658 168105658 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:168105658G>A ENST00000409195.1 + 9 7845 c.7756G>A c.(7756-7758)Gaa>Aaa p.E2586K XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2586K|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2364K NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2411 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 GGTGGAAAAGGAAATGCCATT 0.383000 57 78 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54876311 54876311 + Missense_Mutation SNP A A T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:54876311A>T ENST00000333896.5 + 24 5532 c.5147A>T c.(5146-5148)gAc>gTc p.D1716V SPTBN1_ENST00000356805.4_Missense_Mutation_p.D1729V NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1729 Interaction with ANK2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) CTGGGACAGGACTATGAGCAT 0.552000 29 51 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204985639 204985639 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:204985639C>T ENST00000367172.4 + 32 4344 c.4016C>T c.(4015-4017)cCt>cTt p.P1339L NFASC_ENST00000404907.1_Missense_Mutation_p.P1166L|NFASC_ENST00000360049.4_Missense_Mutation_p.P1161L|NFASC_ENST00000367171.4_Missense_Mutation_p.P1324L|NFASC_ENST00000401399.1_Missense_Mutation_p.P1232L|NFASC_ENST00000513543.1_Missense_Mutation_p.P1161L|NFASC_ENST00000338515.6_Missense_Mutation_p.P1249L|NFASC_ENST00000539706.1_Missense_Mutation_p.P1166L|NFASC_ENST00000339876.6_Missense_Mutation_p.P1232L|NFASC_ENST00000338586.6_Missense_Mutation_p.P1216L|NFASC_ENST00000367169.4_Missense_Mutation_p.P1063L|NFASC_ENST00000404076.1_Missense_Mutation_p.P1149L|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367170.4_Missense_Mutation_p.P1260L O94856 NFASC_HUMAN neurofascin 1339 axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GCCACGTCACCTGTCAATGCT 0.557000 25 77 0 0 1 0 0 TRBV29-1 28558 broad.mit.edu 37 7 142448143 142448143 + RNA SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:142448143C>T ENST00000422143.2 + 0 91 TGCTCCTTCTCCTGGGACTAG 0.473000 5 16 0 0 1 0 0 GEMIN6 79833 broad.mit.edu 37 2 39008901 39008901 + Missense_Mutation SNP C C T rs141104490 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:39008901C>T ENST00000281950.2 + 3 487 c.371C>T c.(370-372)cCa>cTa p.P124L GEMIN6_ENST00000409011.1_3'UTR|GEMIN6_ENST00000409566.1_3'UTR NM_024775.9 NP_079051.9 Q8WXD5 GEMI6_HUMAN gem (nuclear organelle) associated protein 6 124 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly Cajal body|cytosol|spliceosomal complex protein binding kidney(1)|large_intestine(3)|pancreas(1) 5 all_hematologic(82;0.21) GGAGACGCTCCAAGGACTCTC 0.488000 19 103 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20657727 20657727 + RNA SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr15:20657727G>A ENST00000428453.1 - 0 2231 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 GCATCACCAGGAGGAAGTGGG 0.612000 10 78 0 0 1 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12919980 12919980 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:12919980C>T ENST00000240189.2 + 3 807 c.720C>T c.(718-720)tcC>tcT p.S240S NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 240 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) TCGTTTTCTCCAGGTGCCATC 0.453000 53 212 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197183520 197183520 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:197183520C>T ENST00000260983.2 - 9 2276 c.2094G>A c.(2092-2094)caG>caA p.Q698Q HECW2_ENST00000409111.1_Silent_p.Q342Q NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 698 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 ACACGGATTCCTGCGACCCTT 0.617000 15 66 0 0 1 0 0 TRBV20-1 28567 broad.mit.edu 37 7 142334729 142334729 + RNA SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:142334729C>T ENST00000390394.3 + 0 229 GTTTTGGTATCGTCAGTTCCC 0.502000 OREG0018395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 131 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9091606 9091606 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:9091606G>A ENST00000397910.4 - 1 412 c.209C>T c.(208-210)tCg>tTg p.S70L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 70 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 TCCCACAACCGAAGATGTAGG 0.522000 19 86 0 0 1 0 0 HUS1B 135458 broad.mit.edu 37 6 656720 656720 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:656720G>A ENST00000380907.2 - 1 243 c.225C>T c.(223-225)ctC>ctT p.L75L EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron NM_148959.3 NP_683762.2 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint homolog b (S. pombe) 75 endometrium(3)|large_intestine(1)|lung(7) 11 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) GGATCTCATCGAGATCTTCCG 0.697000 5 30 0 0 1 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417986 150417986 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:150417986G>A ENST00000307194.5 + 3 1034 c.894G>A c.(892-894)gaG>gaA p.E298E NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGTGGTCGGAGGCCGTTGCGG 0.627000 29 25 0 0 1 0 0 GGT7 2686 broad.mit.edu 37 20 33447399 33447399 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr20:33447399G>A ENST00000336431.5 - 7 905 c.861C>T c.(859-861)cgC>cgT p.R287R NM_178026.2 NP_821158.2 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 287 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 TCTCCCGGAAGCGCTCGGACA 0.692000 6 33 0 0 1 0 0 SERPINA11 256394 broad.mit.edu 37 14 94912922 94912922 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:94912922G>A ENST00000334708.3 - 3 727 c.663C>T c.(661-663)ttC>ttT p.F221F RP11-349I1.2_ENST00000536735.1_RNA NM_001080451.1 NP_001073920.1 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 221 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) GGTAGCGACTGAAAGGGTGCT 0.478000 71 93 0 0 1 0 0 NARS 4677 broad.mit.edu 37 18 55288939 55288939 + Splice_Site SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr18:55288939C>T ENST00000256854.5 - 1 466 c.e1+1 NARS_ENST00000423481.2_Splice_Site NM_004539.3 NP_004530.1 O43776 SYNC_HUMAN asparaginyl-tRNA synthetase asparaginyl-tRNA aminoacylation cytosol|soluble fraction asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1) 20 Colorectal(73;0.227) L-Asparagine(DB00174) GTCTCACCCACCTAGCACCAT 0.617000 21 79 0 0 1 0 0 CELA2B 51032 broad.mit.edu 37 1 15813918 15813918 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:15813918G>A ENST00000375910.3 + 7 803 c.778G>A c.(778-780)Gac>Aac p.D260N NM_015849.2 NP_056933.2 P08218 CEL2B_HUMAN chymotrypsin-like elastase family, member 2B 260 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 CAACTACAACGACTGGATCAA 0.612000 58 165 0 0 1 0 0 TMEM178A 130733 broad.mit.edu 37 2 39944346 39944346 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:39944346G>A ENST00000281961.2 + 4 905 c.849G>A c.(847-849)cgG>cgA p.R283R TMEM178A_ENST00000482239.1_3'UTR NM_152390.2 NP_689603.2 transmembrane protein 178A TTATTAGCCGGACCAAGATTG 0.547000 25 103 0 0 1 0 0 SCD5 79966 broad.mit.edu 37 4 83557880 83557880 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:83557880C>T ENST00000319540.4 - 4 985 c.666G>A c.(664-666)ttG>ttA p.L222L NM_001037582.2 NP_001032671.2 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 222 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) GAATAGAGGCCAAGAAGTAGG 0.537000 39 71 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12620673 12620673 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:12620673C>T ENST00000425538.1 + 4 388 c.188C>T c.(187-189)tCc>tTc p.S63F MYOCD_ENST00000343344.4_Missense_Mutation_p.S63F|RP11-746E8.1_ENST00000578952.1_lincRNA NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 63 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GCTAAAAATTCCCTGAAGCGC 0.378000 7 35 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23815899 23815899 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:23815899C>T ENST00000264867.2 - 8 1326 c.1207G>A c.(1207-1209)Gag>Aag p.E403K PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 403 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) TCTTGGAGCTCCTGTGATATA 0.443000 43 83 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44685136 44685136 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr20:44685136G>A ENST00000454036.1 + 23 3188 c.3112G>A c.(3112-3114)Gca>Aca p.A1038T SLC12A5_ENST00000243964.3_Missense_Mutation_p.A1015T NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 1038 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CAAGTCGGTGGCAGAGAAGAA 0.637000 18 87 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179452278 179452278 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:179452278C>T ENST00000589042.1 - 306 63982 c.63758G>A c.(63757-63759)gGa>gAa p.G21253E TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G18685E|TTN_ENST00000342175.6_Missense_Mutation_p.G12380E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G12188E|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G12313E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G19612E|TTN-AS1_ENST00000590932.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19612 Fibronectin type-III 54. 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) AGCCTTTTCTCCTGCTGGGTT 0.423000 7 25 0 0 1 0 0 TRMT1 55621 broad.mit.edu 37 19 13216316 13216316 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:13216316G>A ENST00000592062.1 - 16 2258 c.1688C>T c.(1687-1689)cCt>cTt p.P563L TRMT1_ENST00000437766.1_Missense_Mutation_p.P563L|TRMT1_ENST00000357720.4_Missense_Mutation_p.P563L|TRMT1_ENST00000221504.8_Missense_Mutation_p.P534L Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae) 563 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) CCGGGCACGAGGCCGGGGACC 0.662000 41 156 0 0 1 0 0 CCDC69 26112 broad.mit.edu 37 5 150578631 150578631 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:150578631C>T ENST00000355417.2 - 4 420 c.246G>A c.(244-246)agG>agA p.R82R CCDC69_ENST00000521308.1_5'UTR NM_015621.2 NP_056436.2 A6NI79 CCD69_HUMAN coiled-coil domain containing 69 82 haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1) 9 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCTCTAGCTCCCTTTCCTTCT 0.562000 32 130 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27089606 27089606 + Silent SNP T T G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:27089606T>G ENST00000324856.7 + 8 2933 c.2562T>G c.(2560-2562)ccT>ccG p.P854P ARID1A_ENST00000457599.2_Silent_p.P854P|ARID1A_ENST00000374152.2_Silent_p.P471P NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 854 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCACACTCCCTCCAGGGAGGA 0.602000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 20 142 0 0 1 0 0 MKRN1 23608 broad.mit.edu 37 7 140156591 140156591 + Missense_Mutation SNP T T C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:140156591T>C ENST00000255977.2 - 5 1071 c.847A>G c.(847-849)Atc>Gtc p.I283V MKRN1_ENST00000437223.2_Missense_Mutation_p.I17V|MKRN1_ENST00000480552.1_Silent_p.G66G|MKRN1_ENST00000443720.2_Missense_Mutation_p.I283V|MKRN1_ENST00000474576.1_Missense_Mutation_p.I219V NM_013446.3 NP_038474.2 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 283 ligase activity|nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) TCCATGCAGATCCCACACACC 0.547000 7 100 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179439478 179439478 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:179439478C>T ENST00000589042.1 - 326 71605 c.71381G>A c.(71380-71382)gGa>gAa p.G23794E TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G21226E|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G14921E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14729E|TTN_ENST00000359218.5_Missense_Mutation_p.G14854E|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G22153E|TTN-AS1_ENST00000590932.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22153 Fibronectin type-III 73. 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) ATACTCTAATCCAGTAGTAAG 0.443000 42 94 0 0 1 0 0 KLHL24 54800 broad.mit.edu 37 3 183368980 183368980 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:183368980C>T ENST00000454652.1 + 4 1222 c.836C>T c.(835-837)cCt>cTt p.P279L KLHL24_ENST00000476808.1_Missense_Mutation_p.P279L|KLHL24_ENST00000242810.6_Missense_Mutation_p.P279L Q6TFL4 KLH24_HUMAN kelch-like family member 24 279 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) CAGAATTCTCCTGAGTGTTAT 0.463000 8 55 0 0 1 0 0 KDM7A 80853 broad.mit.edu 37 7 139796475 139796475 + Missense_Mutation SNP T T C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:139796475T>C ENST00000397560.2 - 17 2351 c.2254A>G c.(2254-2256)Agg>Ggg p.R752G JHDM1D_ENST00000006967.5_Missense_Mutation_p.R752G NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 752 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) TGTATTTGCCTTTGTAAACAC 0.488000 95 90 0 0 1 0 0 VAMP7 6845 broad.mit.edu 37 X 155171561 155171561 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chrX:155171561C>T ENST00000262640.6 + 7 624 c.541C>T c.(541-543)Cat>Tat p.H181Y VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000286448.6_Silent_p.I203I|VAMP7_ENST00000460621.1_Silent_p.I162I NM_001185183.1 NP_001172112.1 P51809 VAMP7_HUMAN vesicle-associated membrane protein 7 0 v-SNARE coiled-coil homology. calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane protein binding p.H181Y(1)|p.I203I(1) large_intestine(1)|lung(8) 9 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) TCATCTATATCATTGTTTCAC 0.348000 31 83 0 0 1 0 0 REEP2 51308 broad.mit.edu 37 5 137781055 137781055 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:137781055G>A ENST00000378339.2 + 6 748 c.556G>A c.(556-558)Gag>Aag p.E186K REEP2_ENST00000254901.5_Missense_Mutation_p.E184K|REEP2_ENST00000506158.1_Missense_Mutation_p.E146K NM_001271803.1 NP_001258732.1 Q9BRK0 REEP2_HUMAN receptor accessory protein 2 184 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GGACACCATCGAGGACTTAGG 0.667000 12 53 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5155026 5155026 + Silent SNP G G A rs147455567 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:5155026G>A ENST00000252321.3 + 1 1942 c.1713G>A c.(1711-1713)gaG>gaA p.E571E NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 571 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GGACCCTGGAGAATGCAGACA 0.642000 19 31 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123014946 123014946 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:123014946G>A ENST00000462833.1 - 17 4260 c.3048C>T c.(3046-3048)ttC>ttT p.F1016F ADCY5_ENST00000491190.1_Silent_p.F674F|ADCY5_ENST00000309879.5_Silent_p.F666F NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 1016 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) GTTTCCAGAGGAAGTCGAGGC 0.642000 11 100 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56321157 56321157 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:56321157G>A ENST00000443188.1 - 5 1529 c.819C>T c.(817-819)ttC>ttT p.F273F NLRP11_ENST00000589824.2_Silent_p.F273F|NLRP11_ENST00000592953.1_Silent_p.F174F|NLRP11_ENST00000360133.3_Silent_p.F273F|NLRP11_ENST00000589093.1_Silent_p.F273F NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 273 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) AGGAGATGAGGAACCAGCAGC 0.478000 48 75 0 0 1 0 0 TST 7263 broad.mit.edu 37 22 37414441 37414441 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:37414441C>T ENST00000403892.3 - 1 1067 c.333G>A c.(331-333)cgG>cgA p.R111R TST_ENST00000249042.3_Silent_p.R111R NM_001270483.1 NP_001257412.1 Q16762 THTR_HUMAN thiosulfate sulfurtransferase (rhodanese) 111 Rhodanese 1. cyanate catabolic process|rRNA transport mitochondrial matrix|plasma membrane 5S rRNA binding|thiosulfate sulfurtransferase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1) 7 TCCACCAGACCCGGGGAGCAT 0.617000 36 63 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129903501 129903501 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr10:129903501G>A ENST00000368654.3 - 13 6978 c.6603C>T c.(6601-6603)ttC>ttT p.F2201F MKI67_ENST00000368653.3_Silent_p.F1841F NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2201 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TTGGTGTCTGGAAGAGCTCTT 0.507000 112 180 0 0 1 0 0 SLC52A2 79581 broad.mit.edu 37 8 145584375 145584375 + Splice_Site SNP T T G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:145584375T>G ENST00000532887.1 + 4 1708 c.e4+2 SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Splice_Site|SLC52A2_ENST00000527078.1_Splice_Site|SLC52A2_ENST00000329994.2_Splice_Site|SLC52A2_ENST00000402965.1_Splice_Site|SLC52A2_ENST00000540505.1_Splice_Site Q9HAB3 RFT3_HUMAN solute carrier family 52 (riboflavin transporter), member 2 integral to plasma membrane receptor activity|riboflavin transporter activity GTCCTCGTGGTGAGCACAGGG 0.692000 23 129 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75699774 75699774 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:75699774C>T ENST00000370855.5 - 12 863 c.750G>A c.(748-750)acG>acA p.T250T SLC44A5_ENST00000535611.1_Silent_p.T120T|SLC44A5_ENST00000370859.3_Silent_p.T250T NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 250 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 CCATGGCAATCGTCAGGCCAC 0.378000 48 80 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228153880 228153880 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:228153880C>T ENST00000396578.3 + 35 3058 c.2896C>T c.(2896-2898)Cca>Tca p.P966S AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 966 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CGCAGGAAATCCAGGTGAGAA 0.522000 19 27 0 0 1 0 0 SEMA3G 56920 broad.mit.edu 37 3 52476303 52476303 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:52476303G>A ENST00000231721.2 - 4 356 c.357C>T c.(355-357)ttC>ttT p.F119F NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 119 Sema. multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) GCACCCGCACGAAGTTGGCGC 0.667000 19 42 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63477162 63477162 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr18:63477162G>A ENST00000536984.2 + 3 1127 c.433G>A c.(433-435)Gat>Aat p.D145N CDH7_ENST00000323011.3_Missense_Mutation_p.D145N|CDH7_ENST00000397968.2_Missense_Mutation_p.D145N Q9ULB5 CADH7_HUMAN cadherin 7, type 2 145 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) CAAAATTCAGGATATCAACGA 0.507000 58 148 0 0 1 0 0 GLRB 2743 broad.mit.edu 37 4 158065067 158065067 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:158065067C>T ENST00000264428.4 + 8 1130 c.860C>T c.(859-861)tCc>tTc p.S287F GLRB_ENST00000541722.1_Missense_Mutation_p.S287F|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.S287F NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 287 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TCCTGGCTTTCCTTCTGGATC 0.507000 49 51 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10886401 10886401 + Missense_Mutation SNP C C A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:10886401C>A ENST00000314646.5 + 4 572 c.408C>A c.(406-408)gaC>gaA p.D136E DNM2_ENST00000585892.1_Missense_Mutation_p.D136E|DNM2_ENST00000408974.4_Missense_Mutation_p.D136E|DNM2_ENST00000389253.4_Missense_Mutation_p.D136E|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000355667.6_Missense_Mutation_p.D136E|DNM2_ENST00000359692.6_Missense_Mutation_p.D136E P50570 DYN2_HUMAN dynamin 2 136 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) CCCTCATCGACCTCCCGGGTA 0.592000 """F, N, Splice, Mis, O""" ETP ALL 8 411 5.18039e-06 5.20783e-06 1 1 0 ABCC12 94160 broad.mit.edu 37 16 48119612 48119612 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:48119612C>T ENST00000311303.3 - 27 4065 c.3720G>A c.(3718-3720)atG>atA p.M1240I ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000532355.1_5'UTR NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 1240 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) CTGGGAGTTTCATTATCTACA 0.418000 39 108 0 0 1 0 0 PPFIA4 8497 broad.mit.edu 37 1 203015082 203015082 + Translation_Start_Site SNP T T G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:203015082T>G ENST00000295706.4 + 0 1413 PPFIA4_ENST00000367240.2_Missense_Mutation_p.N324K|PPFIA4_ENST00000414050.2_Missense_Mutation_p.N31K|PPFIA4_ENST00000447715.2_Missense_Mutation_p.N324K O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 AGCTGGAGAATGAGCTGGCCA 0.572000 51 211 0 0 1 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643019 1643019 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:1643019C>T ENST00000399682.1 - 1 349 c.305G>A c.(304-306)gGc>gAc p.G102D NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 102 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCACAGGAGCCACAGCCCCC 0.682000 36 220 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 19015541 19015541 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:19015541G>A ENST00000406451.3 + 25 3276 c.3126G>A c.(3124-3126)gtG>gtA p.V1042V HDAC9_ENST00000441542.2_Silent_p.V1045V|HDAC9_ENST00000401921.1_Silent_p.V1001V NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 0 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) CCCTAACAGTGGATGTGGAAC 0.537000 15 35 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81161541 81161541 + RNA SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:81161541G>A ENST00000525539.1 - 0 6173 PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000534142.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CAGCATCCAGGGAATATGGTG 0.562000 5 41 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47921588 47921588 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:47921588C>T ENST00000289672.2 - 20 3411 c.3361G>A c.(3361-3363)Ggc>Agc p.G1121S NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1121 REJ. 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 TCGGCTCTGCCTGCAGACAGG 0.567000 22 105 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29044289 29044289 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr18:29044289C>T ENST00000257189.4 + 9 1298 c.1215C>T c.(1213-1215)atC>atT p.I405I NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 405 Cadherin 4. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGGATTATATCCTGGGAACAT 0.353000 32 94 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119592060 119592060 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:119592060C>T ENST00000267260.4 + 12 1792 c.1404C>T c.(1402-1404)ccC>ccT p.P468P NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 468 Arg-rich.|Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 AGCGGGATCCCAAATACAGTG 0.647000 8 17 0 0 1 0 0 TMEM108 66000 broad.mit.edu 37 3 133099670 133099670 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:133099670C>T ENST00000515826.1 + 3 1238 c.1115C>T c.(1114-1116)tCc>tTc p.S372F TMEM108_ENST00000393130.3_Missense_Mutation_p.S372F|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Missense_Mutation_p.S372F Q6UXF1 TM108_HUMAN transmembrane protein 108 372 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TCAGCCCCTTCCCAGGGGATT 0.612000 47 94 0 0 1 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44805121 44805121 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:44805121C>T ENST00000309315.4 + 16 2308 c.2185C>T c.(2185-2187)Ccc>Tcc p.P729S ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P671S|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P697S|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P703S|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P729S NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 729 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CGGCGCTGCCCCCTTTGCCCC 0.697000 8 30 0 0 1 0 0 DOK7 285489 broad.mit.edu 37 4 3494982 3494982 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:3494982G>A ENST00000340083.5 + 7 1334 c.1269G>A c.(1267-1269)caG>caA p.Q423Q DOK7_ENST00000389653.2_Silent_p.Q423Q|DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000512714.1_3'UTR NM_173660.4 NP_775931.3 Q18PE1 DOK7_HUMAN docking protein 7 423 positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCCCCTCACAGGGCAGCCCCG 0.706000 15 29 0 0 1 0 0 NGEF 25791 broad.mit.edu 37 2 233756081 233756081 + Missense_Mutation SNP T T C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:233756081T>C ENST00000264051.3 - 8 1537 c.1259A>G c.(1258-1260)aAg>aGg p.K420R NGEF_ENST00000373552.4_Missense_Mutation_p.K328R|NGEF_ENST00000539537.1_Missense_Mutation_p.K143R NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 420 DH. apoptosis|cell differentiation|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 cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GACCAACAGCTTGAGGCGTGT 0.617000 43 80 0 0 1 0 0 SEC14L4 284904 broad.mit.edu 37 22 30888078 30888078 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:30888078C>T ENST00000392772.2 - 9 844 c.567G>A c.(565-567)ggG>ggA p.G189G SEC14L4_ENST00000381982.3_Silent_p.G243G|SEC14L4_ENST00000255858.7_Silent_p.G243G|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000540456.1_Silent_p.G228G Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 243 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) CAGTCATGGTCCCCCCAAACT 0.587000 15 51 0 0 1 0 0 MED24 9862 broad.mit.edu 37 17 38182899 38182899 + Splice_Site SNP C C A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:38182899C>A ENST00000394126.1 - 17 2303 c.e17+1 MED24_ENST00000356271.3_Splice_Site|MED24_ENST00000394127.2_Splice_Site|MED24_ENST00000501516.3_Splice_Site|MED24_ENST00000394128.2_Splice_Site O75448 MED24_HUMAN mediator complex subunit 24 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) GGCGGGGCTACCTGGATGGAC 0.547000 OREG0024386 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 13 1.06961e-07 1.07756e-07 1 1 0 TRIM55 84675 broad.mit.edu 37 8 67039554 67039554 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:67039554G>A ENST00000315962.4 + 1 424 c.51G>A c.(49-51)atG>atA p.M17I TRIM55_ENST00000353317.5_Missense_Mutation_p.M17I|TRIM55_ENST00000276573.7_Missense_Mutation_p.M17I|TRIM55_ENST00000350034.4_Missense_Mutation_p.M17I NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 17 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) AGCAGACCATGGATAACTTAG 0.493000 37 60 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55961825 55961825 + Silent SNP G G A rs41452948 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:55961825G>A ENST00000263923.4 - 20 3031 c.2736C>T c.(2734-2736)ctC>ctT p.L912L NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 912 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CAATCACCATGAGTGGCCCTG 0.428000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 30 74 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18622332 18622332 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:18622332G>A ENST00000380548.4 + 5 905 c.566G>A c.(565-567)cGa>cAa p.R189Q ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.R189Q|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.R189Q|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.R189Q|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R189Q NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 189 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) CGGCTGGTCCGAGGGCAGTAT 0.537000 43 38 0 0 1 0 0 OR7G3 390883 broad.mit.edu 37 19 9237580 9237580 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:9237580C>T ENST00000305444.2 - 1 46 c.47G>A c.(46-48)gGa>gAa p.G16E NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 CCCTGACAATCCCAAGAGAAA 0.473000 14 59 0 0 1 0 0 SLC6A5 9152 broad.mit.edu 37 11 20636294 20636294 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:20636294C>T ENST00000525748.1 + 6 1328 c.1055C>T c.(1054-1056)cCc>cTc p.P352L NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 352 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) ACCGCTTATCCCAACGTGACA 0.398000 60 81 0 0 1 0 0 FPR2 2358 broad.mit.edu 37 19 52271931 52271931 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:52271931C>T ENST00000598776.1 + 2 792 c.20C>T c.(19-21)aCt>aTt p.T7I FPR2_ENST00000340023.6_Missense_Mutation_p.T7I|FPR2_ENST00000598953.1_Missense_Mutation_p.T7I NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 7 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 AACTTCTCCACTCCTCTGAAT 0.483000 22 64 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21712081 21712081 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:21712081C>T ENST00000261195.2 - 10 1506 c.1252G>A c.(1252-1254)Gat>Aat p.D418N NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 418 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 TCTAAAATATCGTTCAGGTCA 0.328000 12 44 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20644564 20644564 + RNA SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr15:20644564C>T ENST00000428453.1 - 0 3187 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 GGAAGGGAGACGGCCACCCAC 0.622000 3 12 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34209185 34209185 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:34209185G>A ENST00000373381.4 - 14 2045 c.1869C>T c.(1867-1869)acC>acT p.T623T NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 583 CUB 4. 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) CAGACGGGCTGGTGAAGTTGA 0.587000 10 81 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160471585 160471585 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:160471585C>T ENST00000356956.1 + 19 2743 c.2595C>T c.(2593-2595)ctC>ctT p.L865L NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 865 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GCGGCAGCCTCCTTCTGGAAT 0.572000 23 77 0 0 1 0 0 KLK11 11012 broad.mit.edu 37 19 51527526 51527526 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:51527526C>T ENST00000594768.1 - 4 519 c.334G>A c.(334-336)Gag>Aag p.E112K KLK11_ENST00000453757.3_Missense_Mutation_p.E80K|KLK11_ENST00000319720.7_Missense_Mutation_p.E80K|KLK11_ENST00000391804.3_Missense_Mutation_p.E105K|KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000600362.1_Intron NM_144947.1 NP_659196.1 Q9UBX7 KLK11_HUMAN kallikrein-related peptidase 11 112 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878) CAGCCCTCCTCCTTCTGGAGG 0.597000 55 96 0 0 1 0 0 PIANP 196500 broad.mit.edu 37 12 6806468 6806468 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:6806468C>T ENST00000534837.1 - 3 737 c.508G>A c.(508-510)Ggg>Agg p.G170R PIANP_ENST00000540656.1_Missense_Mutation_p.G170R|PIANP_ENST00000320591.5_Missense_Mutation_p.G170R NM_001244014.1 NP_001230943.1 PILR alpha associated neural protein CCACGGCCCCCGAACAGGAAT 0.607000 7 49 0 0 1 0 0 PRDM15 63977 broad.mit.edu 37 21 43277345 43277345 + Silent SNP G G A rs112850683 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr21:43277345G>A ENST00000422911.1 - 4 437 c.336C>T c.(334-336)ttC>ttT p.F112F PRDM15_ENST00000447207.2_Silent_p.F75F|PRDM15_ENST00000538201.1_Silent_p.F75F|PRDM15_ENST00000269844.3_Silent_p.F441F|PRDM15_ENST00000398548.1_Silent_p.F112F P57071 PRD15_HUMAN PR domain containing 15 441 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F441F(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 CAAAGGGACCGAACTGTGTCC 0.552000 31 103 0 0 1 0 0 FZD8 8325 broad.mit.edu 37 10 35928840 35928840 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr10:35928840G>A ENST00000374694.1 - 1 1522 c.1518C>T c.(1516-1518)tcC>tcT p.S506S NM_031866.2 NP_114072.1 Q9H461 FZD8_HUMAN frizzled family receptor 8 506 axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 TGCGGAAGAGGGACACGAAGC 0.627000 16 33 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53304755 53304755 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:53304755C>T ENST00000438150.2 - 2 1077 c.184G>A c.(184-186)Gaa>Aaa p.E62K ZNF28_ENST00000414252.2_Missense_Mutation_p.E62K|ZNF28_ENST00000360272.4_Missense_Mutation_p.E62K|ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000457749.2_Missense_Mutation_p.E115K|ZNF28_ENST00000339844.6_3'UTR P17035 ZNF28_HUMAN zinc finger protein 28 115 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TCTTTGATTTCTGTCATGGGT 0.398000 78 364 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653023 159653023 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:159653023G>A ENST00000297267.9 + 11 1679 c.1479G>A c.(1477-1479)gtG>gtA p.V493V FNDC1_ENST00000340366.6_Silent_p.V430V NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 493 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) ACCCCTCTGTGCCTGCTTCTC 0.547000 15 31 0 0 1 0 0 ZP1 22917 broad.mit.edu 37 11 60635194 60635194 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:60635194C>T ENST00000278853.5 + 1 160 c.160C>T c.(160-162)Ccc>Tcc p.P54S NM_207341.2 NP_997224.2 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 (sperm receptor) 54 single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 GCTGGTGTTCCCCAGGCCAGG 0.682000 5 48 0 0 1 0 0 CFAP221 200373 broad.mit.edu 37 2 120395917 120395917 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:120395917C>T ENST00000602047.1 + 21 2311 c.1199C>T c.(1198-1200)cCc>cTc p.P400L PCDP1_ENST00000413369.3_Missense_Mutation_p.P686L Q4G0U5 PCDP1_HUMAN 686 cilium calmodulin binding Colorectal(110;0.196) TGCTCTCACCCCAAGTACAAA 0.483000 31 158 0 0 1 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378400 31378400 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:31378400G>A ENST00000297142.3 - 2 805 c.483C>T c.(481-483)ttC>ttT p.F161F NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 161 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.F161F(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 AGTTTTGGACGAATGTGAGCA 0.483000 36 104 0 0 1 0 0 XYLT2 64132 broad.mit.edu 37 17 48437523 48437523 + Silent SNP T T A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:48437523T>A ENST00000017003.2 + 11 2518 c.2469T>A c.(2467-2469)gcT>gcA p.A823A XYLT2_ENST00000507602.1_Intron NM_022167.2 NP_071450.2 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 823 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) GGTCCGTGGCTGGACTGTGTG 0.677000 9 83 0 0 1 0 0 KIAA0408 9729 broad.mit.edu 37 6 127771005 127771005 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:127771005G>A ENST00000483725.3 - 4 876 c.540C>T c.(538-540)agC>agT p.S180S SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 180 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) CCTCTTGAAAGCTGCATAATT 0.333000 29 108 0 0 1 0 0 CDHR3 222256 broad.mit.edu 37 7 105662855 105662855 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:105662855C>T ENST00000542731.1 + 14 2145 c.2037C>T c.(2035-2037)gtC>gtT p.V679V CDHR3_ENST00000317716.9_Silent_p.V679V|CDHR3_ENST00000478080.1_Silent_p.V591V|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000343407.5_Intron Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 679 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.V679V(2) breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 GTATTAAAGTCATTCCCCACC 0.483000 44 325 0 0 1 0 0 ADCK5 203054 broad.mit.edu 37 8 145617309 145617309 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:145617309C>T ENST00000308860.6 + 11 1158 c.1114C>T c.(1114-1116)Ccg>Tcg p.P372S NM_174922.3 NP_777582.3 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 372 Protein kinase. integral to membrane protein serine/threonine kinase activity endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) GCGGAAAGGCCCGGACGGGAA 0.657000 14 46 0 0 1 0 0 GPR101 83550 broad.mit.edu 37 X 136113488 136113488 + Missense_Mutation SNP A A G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chrX:136113488A>G ENST00000298110.1 - 1 345 c.346T>C c.(346-348)Ttc>Ctc p.F116L NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 116 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) ACGCTGGCGAAGGCGAACAGG 0.622000 6 13 0 0 1 0 0 NSMF 26012 broad.mit.edu 37 9 140344688 140344688 + Missense_Mutation SNP T T C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:140344688T>C ENST00000371475.3 - 13 1487 c.1256A>G c.(1255-1257)tAt>tGt p.Y419C NSMF_ENST00000371474.3_Missense_Mutation_p.Y394C|NSMF_ENST00000371473.3_Missense_Mutation_p.Y389C|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000339554.3_Missense_Mutation_p.Y216C|NSMF_ENST00000541195.1_Missense_Mutation_p.Y216C|NSMF_ENST00000265663.7_Missense_Mutation_p.Y417C|NSMF_ENST00000392812.4_Missense_Mutation_p.Y396C|NSMF_ENST00000371482.1_Missense_Mutation_p.Y83C|NSMF_ENST00000437259.1_Missense_Mutation_p.Y396C|NSMF_ENST00000371472.2_Missense_Mutation_p.Y417C NM_001130969.1 NP_001124441.1 NMDA receptor synaptonuclear signaling and neuronal migration factor CTTGAGGAGATAGAGGTGTCC 0.602000 59 153 0 0 1 0 0 SYNPO 11346 broad.mit.edu 37 5 150029608 150029608 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:150029608G>A ENST00000394243.1 + 3 2877 c.2503G>A c.(2503-2505)Gcc>Acc p.A835T SYNPO_ENST00000519664.1_Missense_Mutation_p.A591T|SYNPO_ENST00000522122.1_Missense_Mutation_p.A835T|SYNPO_ENST00000307662.4_Missense_Mutation_p.A591T NM_001166208.1 NP_001159680.1 Q8N3V7 SYNPO_HUMAN synaptopodin 835 Pro-rich. positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2) 18 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCCTCGCCCGCCAAGCCCAG 0.667000 4 178 0 0 1 0 0 ZMPSTE24 10269 broad.mit.edu 37 1 40735762 40735762 + Missense_Mutation SNP T T A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:40735762T>A ENST00000372759.3 + 5 755 c.590T>A c.(589-591)tTt>tAt p.F197Y NM_005857.4 NP_005848.2 O75844 FACE1_HUMAN zinc metallopeptidase STE24 197 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 16 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) GACTATTTTTTTATTTATGCC 0.328000 46 317 0 0 1 0 0 OR5H1 26341 broad.mit.edu 37 3 97852232 97852232 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:97852232G>A ENST00000354565.2 + 1 691 c.691G>A c.(691-693)Gat>Aat p.D231N RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 AAAGAAATCTGATAAAGGTGT 0.378000 37 104 0 0 1 0 0 MEF2C 4208 broad.mit.edu 37 5 88056823 88056823 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:88056823G>A ENST00000340208.5 - 6 843 c.438C>T c.(436-438)atC>atT p.I146I MEF2C_ENST00000424173.2_Silent_p.I126I|MEF2C_ENST00000437473.2_Intron|MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000506554.1_Intron|MEF2C_ENST00000514015.1_Intron|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000510942.1_Intron|MEF2C_ENST00000503554.1_Intron|MEF2C_ENST00000514028.1_Intron|MEF2C_ENST00000504921.2_Intron NM_001193347.1 NP_001180276.1 Q06413 MEF2C_HUMAN myocyte enhancer factor 2C 128 Ser-rich. apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic 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 nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 40 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) TATGACTCTTGATCATATTAT 0.408000 HNSCC(66;0.2) 11 48 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43048392 43048392 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr20:43048392G>A ENST00000316099.3 + 7 857 c.768G>A c.(766-768)ccG>ccA p.P256P HNF4A_ENST00000415691.1_Silent_p.P256P|HNF4A_ENST00000457232.1_Silent_p.P234P|HNF4A_ENST00000443598.2_Silent_p.P256P NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 256 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGCACTGCCCGGAGCTGGCGG 0.582000 56 136 0 0 1 0 0 TARS2 80222 broad.mit.edu 37 1 150459936 150459936 + Missense_Mutation SNP T T G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:150459936T>G ENST00000369064.3 + 1 44 c.10T>G c.(10-12)Tat>Gat p.Y4D TARS2_ENST00000606933.1_Missense_Mutation_p.Y4D|TARS2_ENST00000369054.2_Missense_Mutation_p.Y4D|TARS2_ENST00000438568.2_Missense_Mutation_p.Y4D NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 4 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|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;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CATGGCCCTGTATCAGAGGTG 0.547000 32 112 0 0 1 0 0 DGAT2L6 347516 broad.mit.edu 37 X 69424192 69424192 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chrX:69424192G>A ENST00000333026.3 + 6 785 c.685G>A c.(685-687)Gaa>Aaa p.E229K NM_198512.1 NP_940914.1 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 229 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1) 12 TGGTGAGAACGAAGTTTTCAA 0.468000 17 10 0 0 1 0 0 PBXIP1 57326 broad.mit.edu 37 1 154919034 154919034 + Silent SNP C C T rs150382643 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:154919034C>T ENST00000368463.3 - 10 1187 c.1116G>A c.(1114-1116)agG>agA p.R372R PBXIP1_ENST00000539880.1_Silent_p.R199R|PBXIP1_ENST00000368465.1_Silent_p.R343R|PBXIP1_ENST00000542459.1_Silent_p.R217R NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 372 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCTCCTGCTCCCTGGGGCCTT 0.637000 38 144 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 118293309 118293309 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:118293309C>T ENST00000425217.1 - 3 363 c.309G>A c.(307-309)gaG>gaA p.E103E KSR2_ENST00000339824.5_Silent_p.E132E NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 132 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTCCGTATTTCTCCACAGTCT 0.612000 28 109 0 0 1 0 0 GABRA5 2558 broad.mit.edu 37 15 27128704 27128704 + Splice_Site SNP G G C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr15:27128704G>C ENST00000335625.5 + 6 1385 c.497_splice c.e6+1 p.R166_splice GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000355395.5_Splice_Site_p.R166_splice|GABRA5_ENST00000400081.3_Splice_Site_p.R166_splice|GABRB3_ENST00000541819.2_Intron NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 166 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TACACCATGCGGTGAgcgccg 0.697000 6 17 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562543 140562543 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:140562543G>A ENST00000361016.2 + 1 1564 c.409G>A c.(409-411)Gaa>Aaa p.E137K NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 137 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACTGAAAAGGAAATGATTCT 0.373000 12 55 0 0 1 0 0 INTS2 57508 broad.mit.edu 37 17 59962332 59962332 + Silent SNP A A G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:59962332A>G ENST00000444766.3 - 16 2118 c.2043T>C c.(2041-2043)tcT>tcC p.S681S INTS2_ENST00000251334.6_Silent_p.S673S NM_020748.2 NP_065799.1 Q9H0H0 INT2_HUMAN integrator complex subunit 2 681 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 CCATTAAAGAAGAAGAATATG 0.348000 6 22 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108385014 108385014 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:108385014C>T ENST00000265843.4 - 6 1330 c.1220G>A c.(1219-1221)aGg>aAg p.R407K EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.R331K|EXPH5_ENST00000443411.1_Missense_Mutation_p.R219K|EXPH5_ENST00000525344.1_Missense_Mutation_p.R400K NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 407 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CTGAAAACCCCTGGGATACAC 0.448000 77 149 0 0 1 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243493840 243493840 + Splice_Site SNP A A T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:243493840A>T ENST00000366541.3 + 10 1186 c.e10-1 SDCCAG8_ENST00000355875.4_Splice_Site|SDCCAG8_ENST00000343783.6_Splice_Site NM_006642.3 NP_006633.1 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) CTATCCTGGCAGGCTTTAATC 0.393000 27 47 0 0 1 0 0 BCL9L 283149 broad.mit.edu 37 11 118773520 118773520 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:118773520G>A ENST00000334801.3 - 6 1896 c.932C>T c.(931-933)cCc>cTc p.P311L BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 311 Necessary for interaction with CTNNB1 (By similarity).|Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) AGGGGCCGGGGGTGGCGGCGG 0.731000 11 9 0 0 1 0 0 NOX3 50508 broad.mit.edu 37 6 155732481 155732481 + Nonsense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:155732481C>T ENST00000159060.2 - 11 1424 c.1322G>A c.(1321-1323)tGg>tAg p.W441* NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 441 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CCGGCAAATCCAGTAGAAATA 0.408000 19 47 0 0 1 0 0 KIFC1 3833 broad.mit.edu 37 6 33371118 33371118 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:33371118C>T ENST00000428849.2 + 4 728 c.278C>T c.(277-279)cCc>cTc p.P93L KIFC1_ENST00000486695.1_3'UTR NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 93 blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 AAGACAGGACCCCGGTGTTCC 0.498000 53 147 0 0 1 0 0 FLII 2314 broad.mit.edu 37 17 18154273 18154273 + Missense_Mutation SNP T T C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:18154273T>C ENST00000327031.4 - 14 1880 c.1655A>G c.(1654-1656)gAg>gGg p.E552G FLII_ENST00000379450.4_Missense_Mutation_p.E466G|FLII_ENST00000579294.1_Missense_Mutation_p.E541G|FLII_ENST00000578558.1_Missense_Mutation_p.E551G|FLII_ENST00000545457.2_Missense_Mutation_p.E497G NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 552 Interaction with ACTL6A. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) GAGTGTGGCCTCCCCGCCAAT 0.587000 10 60 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7654045 7654045 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:7654045C>T ENST00000359156.4 - 3 349 c.147G>A c.(145-147)aaG>aaA p.K49K CD163_ENST00000432237.2_Silent_p.K49K|CD163_ENST00000396620.3_Silent_p.K49K|CD163_ENST00000541972.1_Silent_p.K37K NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 49 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GCCTCAGCTCCTTGTCTGTTC 0.438000 40 103 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6209093 6209093 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:6209093C>T ENST00000262450.3 - 9 1303 c.1204G>A c.(1204-1206)Gaa>Aaa p.E402K CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 402 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) tcctcctcttcatcgtcgtcg 0.706000 7 34 0 0 1 0 0 SLC26A8 116369 broad.mit.edu 37 6 35980105 35980105 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:35980105G>A ENST00000490799.1 - 3 586 c.233C>T c.(232-234)cCc>cTc p.P78L SLC26A8_ENST00000394602.2_Missense_Mutation_p.P78L|SLC26A8_ENST00000355574.2_Missense_Mutation_p.P78L NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 78 cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 TTCTAGGAAGGGAAAGATTGT 0.463000 59 119 0 0 1 0 0 SULT2B1 6820 broad.mit.edu 37 19 49090499 49090499 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:49090499G>A ENST00000323090.4 + 2 558 c.183G>A c.(181-183)atG>atA p.M61I SULT2B1_ENST00000201586.2_Missense_Mutation_p.M76I NM_004605.2 NP_004596.2 O00204 ST2B1_HUMAN sulfotransferase family, cytosolic, 2B, member 1 76 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 11 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178) CGACCTGGATGATCGAGATCA 0.522000 25 82 0 0 1 0 0 ENO3 2027 broad.mit.edu 37 17 4859344 4859344 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:4859344C>T ENST00000323997.6 + 9 1105 c.973C>T c.(973-975)Ccc>Tcc p.P325S ENO3_ENST00000519584.1_Missense_Mutation_p.P282S|ENO3_ENST00000518175.1_Missense_Mutation_p.P325S NM_001976.4|NM_053013.3 NP_001967.3|NP_443739.3 P13929 ENOB_HUMAN enolase 3 (beta, muscle) 325 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1) 15 AGTCACCAACCCCAAGAGGAT 0.572000 50 101 0 0 1 0 0 TFAP2D 83741 broad.mit.edu 37 6 50682897 50682897 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:50682897C>T ENST00000008391.3 + 2 336 c.108C>T c.(106-108)tcC>tcT p.S36S NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 36 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) TAGCCAATTCCACTGTCGCCT 0.547000 49 127 0 0 1 0 0 RNF215 200312 broad.mit.edu 37 22 30780446 30780446 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:30780446G>A ENST00000382363.3 - 5 700 c.626C>T c.(625-627)tCc>tTc p.S209F NM_001017981.1 NP_001017981.1 Q9Y6U7 RN215_HUMAN ring finger protein 215 209 integral to membrane zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2) 6 GGCAGACAGGGACTCTCCGCT 0.617000 23 62 0 0 1 0 0 SCNM1 79005 broad.mit.edu 37 1 151140650 151140650 + Silent SNP T T A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:151140650T>A ENST00000368905.4 + 6 540 c.429T>A c.(427-429)ctT>ctA p.L143L NM_001204856.1|NM_024041.3 NP_001191785.1|NP_076946.1 Q9BWG6 SCNM1_HUMAN sodium channel modifier 1 143 mRNA processing|RNA splicing nucleus metal ion binding|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTGTCTCCCTTTCCCCTATGC 0.542000 81 719 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453137 140453137 + Missense_Mutation SNP C C T rs121913227 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:140453137C>T ENST00000288602.6 - 15 1858 c.1798G>A c.(1798-1800)Gtg>Atg p.V600M NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) CGAGATTTCACTGTAGCTAGA 0.363000 V600M(IGR1_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 61 93 0 0 1 0 0 ZP2 7783 broad.mit.edu 37 16 21214509 21214509 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:21214509G>A ENST00000574002.1 - 11 1518 c.1036C>T c.(1036-1038)Cgg>Tgg p.R346W ZP2_ENST00000219593.4_Missense_Mutation_p.R346W|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.R346W Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 346 binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) GTCTCTGGCCGAAGGAGAAAG 0.408000 36 78 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21227269 21227269 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:21227269G>A ENST00000233242.1 - 28 12086 c.11959C>T c.(11959-11961)Cat>Tat p.H3987Y NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3987 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) TAGCGCAGATGGAGATCGGTG 0.512000 41 90 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130877993 130877993 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:130877993G>A ENST00000357462.5 - 1 189 c.96C>T c.(94-96)ttC>ttT p.F32F POTEF_ENST00000360967.5_Silent_p.F32F|POTEF_ENST00000409914.2_Silent_p.F32F|POTEF_ENST00000361163.4_Silent_p.F32F A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 32 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TGCAGCAGGGGAAGCAACGGC 0.572000 143 259 0 0 1 0 0 ECE1 1889 broad.mit.edu 37 1 21599381 21599381 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:21599381C>T ENST00000415912.2 - 4 381 c.256G>A c.(256-258)Gaa>Aaa p.E86K ECE1_ENST00000436918.2_Missense_Mutation_p.E102K|ECE1_ENST00000264205.6_Missense_Mutation_p.E99K|ECE1_ENST00000374893.6_Missense_Mutation_p.E102K|ECE1_ENST00000357071.4_Missense_Mutation_p.E90K NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 102 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) ACACAAGCTTCGCTCAGGCAC 0.602000 33 95 0 0 1 0 0 SCAF4 57466 broad.mit.edu 37 21 33065634 33065634 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr21:33065634G>A ENST00000286835.7 - 12 1868 c.1486C>T c.(1486-1488)Cct>Tct p.P496S SCAF4_ENST00000434667.3_Missense_Mutation_p.P481S|SCAF4_ENST00000399804.1_Missense_Mutation_p.P496S NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 496 nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 TTCACTTGAGGGAGGCCTTTT 0.433000 37 81 0 0 1 0 0 CPT1C 126129 broad.mit.edu 37 19 50209359 50209359 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:50209359C>T ENST00000392518.4 + 11 1530 c.1158C>T c.(1156-1158)ccC>ccT p.P386P CPT1C_ENST00000405931.2_Silent_p.P375P|CPT1C_ENST00000323446.5_Silent_p.P386P|CPT1C_ENST00000354199.5_Silent_p.P386P|CPT1C_ENST00000598293.1_Silent_p.P386P NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 386 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) CAGCTGCTCCCAGGTAAGGGT 0.647000 16 37 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46243818 46243818 + Splice_Site SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:46243818G>A ENST00000334344.6 + 15 2084 c.e15-1 ARID2_ENST00000444670.1_Splice_Site|ARID2_ENST00000479608.1_Splice_Site|ARID2_ENST00000422737.1_Splice_Site NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CATATTTTCAGGAATCCCTCA 0.333000 """N, S, F""" hepatocellular carcinoma 24 71 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72412623 72412623 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:72412623C>T ENST00000395270.1 + 14 2337 c.1296C>T c.(1294-1296)tcC>tcT p.S432S POM121_ENST00000358357.3_Silent_p.S432S|POM121_ENST00000434423.2_Silent_p.S697S|POM121_ENST00000446813.1_Silent_p.S432S|POM121_ENST00000257622.4_Silent_p.S432S NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 697 Pore side (Potential).|Ser-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CTGCCCCGTCCCCCGCCCCCA 0.602000 37 134 0 0 1 0 0 DHX38 9785 broad.mit.edu 37 16 72142735 72142735 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:72142735C>T ENST00000268482.3 + 24 3801 c.3292C>T c.(3292-3294)Ccc>Tcc p.P1098S DHX38_ENST00000536867.1_Missense_Mutation_p.P410S NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 1098 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) CACAGGGATGCCCTGCCACTT 0.542000 26 56 0 0 1 0 0 MRPL35 51318 broad.mit.edu 37 2 86434315 86434315 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:86434315C>T ENST00000337109.4 + 3 277 c.243C>T c.(241-243)ccC>ccT p.P81P MRPL35_ENST00000605125.1_Intron|MRPL35_ENST00000409180.1_Silent_p.P81P|MRPL35_ENST00000254644.8_Silent_p.P81P NM_016622.3 NP_057706.2 Q9NZE8 RM35_HUMAN mitochondrial ribosomal protein L35 81 P -> L (in dbSNP:rs3192352). translation mitochondrial ribosome structural constituent of ribosome cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2) 14 GAATGGCCCCCGTGCTTCCAA 0.368000 10 25 0 0 1 0 0 TBX4 9496 broad.mit.edu 37 17 59560294 59560294 + Missense_Mutation SNP G G A rs61739275 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:59560294G>A ENST00000393853.4 + 9 1221 c.1058G>A c.(1057-1059)cGa>cAa p.R353Q TBX4_ENST00000240335.1_Missense_Mutation_p.R352Q|TBX4_ENST00000589449.1_3'UTR P57082 TBX4_HUMAN T-box 4 352 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CCTTGCAAGCGATCCTATCTG 0.572000 10 43 0 0 1 0 0 NADK2 133686 broad.mit.edu 37 5 36226646 36226646 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:36226646G>A ENST00000381937.4 - 3 408 c.409C>T c.(409-411)Cgt>Tgt p.R137C NADK2_ENST00000506945.1_5'UTR|NADK2_ENST00000397338.1_5'UTR|NADK2_ENST00000282512.3_5'UTR|NADK2_ENST00000514504.1_Missense_Mutation_p.R137C NM_001085411.1 NP_001078880.1 NAD kinase 2, mitochondrial TTTACTAGACGAACCTCAATT 0.378000 14 55 0 0 1 0 0 OR4S2 219431 broad.mit.edu 37 11 55419106 55419106 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:55419106G>A ENST00000312422.2 + 1 727 c.727G>A c.(727-729)Gcc>Acc p.A243T NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) CTCCCACATTGCCATGGTCGT 0.473000 64 108 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155451261 155451261 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:155451261C>T ENST00000461783.3 + 6 2177 c.904C>T c.(904-906)Ctg>Ttg p.L302L TIAM2_ENST00000529824.2_Silent_p.L302L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Silent_p.L302L|TIAM2_ENST00000360366.4_Silent_p.L302L|TIAM2_ENST00000456144.1_Silent_p.L302L Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 302 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CCTCCGGGAACTGTACAAAGA 0.587000 22 74 0 0 1 0 0 ZNF470 388566 broad.mit.edu 37 19 57086093 57086093 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:57086093C>T ENST00000330619.8 + 5 960 c.274C>T c.(274-276)Ctg>Ttg p.L92L ZNF470_ENST00000391709.3_Silent_p.L92L|ZNF470_ENST00000601902.1_Silent_p.L92L NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 92 KRAB. 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) GAACAGAGGCCTGTGCCCAGG 0.453000 7 43 0 0 1 0 0 OR10Q1 219960 broad.mit.edu 37 11 57995562 57995562 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:57995562G>A ENST00000316770.2 - 1 828 c.786C>T c.(784-786)ctC>ctT p.L262L NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) GCAGGTACACGAGGCTGCAGC 0.607000 33 45 0 0 1 0 0 CES1P1 51716 broad.mit.edu 37 16 55798733 55798733 + RNA SNP G G C rs78337607 by1000genomes TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:55798733G>C ENST00000571348.1 + 0 220 NR_003276.2 TTGCCAAGCCGCCTCTTGGAC 0.547000 8 14 0 0 1 0 0 RUFY4 285180 broad.mit.edu 37 2 218954016 218954016 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:218954016C>T ENST00000374155.3 + 11 2014 c.1604C>T c.(1603-1605)tCc>tTc p.S535F RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Missense_Mutation_p.S515F Q6ZNE9 RUFY4_HUMAN RUN and FYVE domain containing 4 515 metal ion binding endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Renal(207;0.0915) Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CATCTCTCTTCCATGGCTCCC 0.537000 12 47 0 0 1 0 0 LRRC8A 56262 broad.mit.edu 37 9 131670550 131670550 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:131670550G>A ENST00000259324.5 + 3 1630 c.1107G>A c.(1105-1107)aaG>aaA p.K369K LRRC8A_ENST00000372600.4_Silent_p.K369K|LRRC8A_ENST00000372599.3_Silent_p.K369K NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 369 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 CCGACGTCAAGAACGACTTCG 0.557000 58 71 0 0 1 0 0 FAM134A 79137 broad.mit.edu 37 2 220044923 220044923 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:220044923C>T ENST00000430297.2 + 4 647 c.511C>T c.(511-513)Cac>Tac p.H171Y NM_024293.4 NP_077269.3 Q8NC44 F134A_HUMAN family with sequence similarity 134, member A 171 endoplasmic reticulum|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 19 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTTCCAGATTCACCTGCAGGA 0.587000 53 125 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325506 150325506 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:150325506G>A ENST00000328902.5 - 3 396 c.180C>T c.(178-180)atC>atT p.I60I GIMAP6_ENST00000493969.1_Intron NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 60 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCCTGCCGAGGATGCTGTTTC 0.552000 168 603 0 0 1 0 0 SBK1 388228 broad.mit.edu 37 16 28331516 28331516 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:28331516C>T ENST00000341901.4 + 4 1338 c.549C>T c.(547-549)ttC>ttT p.F183F NM_001024401.2 NP_001019572.1 Q52WX2 SBK1_HUMAN SH3 domain binding kinase 1 183 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 TGCTGCTGTTCGACCGCGAGT 0.692000 8 27 0 0 1 0 0 AK8 158067 broad.mit.edu 37 9 135702290 135702290 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:135702290G>A ENST00000298545.3 - 8 1229 c.708C>T c.(706-708)atC>atT p.I236I AK8_ENST00000477396.1_5'UTR NM_152572.2 NP_689785.1 Q96MA6 KAD8_HUMAN adenylate kinase 8 236 cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2) 23 TGACTTTGAGGATTTTGGGGT 0.562000 84 197 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108788535 108788535 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:108788535G>A ENST00000232603.5 - 9 841 c.759C>T c.(757-759)ttC>ttT p.F253F MORC1_ENST00000483760.1_Silent_p.F253F NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 253 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TGGCTTGAATGAATATTCTCA 0.358000 26 82 0 0 1 0 0 ZNF613 79898 broad.mit.edu 37 19 52448724 52448724 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:52448724C>T ENST00000293471.6 + 6 2267 c.1588C>T c.(1588-1590)Cat>Tat p.H530Y ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.H494Y NM_001031721.3 NP_001026891.2 Q6PF04 ZN613_HUMAN zinc finger protein 613 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) CCTTGTTTATCATAAGGGAAT 0.433000 25 53 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31294682 31294682 + Missense_Mutation SNP A A C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr15:31294682A>C ENST00000542188.1 - 27 4585 c.4272T>G c.(4270-4272)gaT>gaG p.D1424E TRPM1_ENST00000397795.2_Missense_Mutation_p.D1385E|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.D1407E NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1385 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CATGTATCACATCTGTTTTAT 0.363000 4 225 0 0 1 0 0 RBM34 23029 broad.mit.edu 37 1 235324299 235324299 + Missense_Mutation SNP T T A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:235324299T>A ENST00000408888.3 - 2 367 c.137A>T c.(136-138)gAa>gTa p.E46V RBM34_ENST00000366606.3_Missense_Mutation_p.E41V P42696 RBM34_HUMAN RNA binding motif protein 34 46 nucleolus nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) GGAATGGTGTTCGCCGCGAAA 0.582000 34 69 0 0 1 0 0 ZNF43 7594 broad.mit.edu 37 19 21991433 21991433 + Missense_Mutation SNP A A G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:21991433A>G ENST00000594012.1 - 7 1902 c.1388T>C c.(1387-1389)cTt>cCt p.L463P ZNF43_ENST00000598381.1_Missense_Mutation_p.L463P|ZNF43_ENST00000595461.1_Missense_Mutation_p.L463P|ZNF43_ENST00000354959.4_Missense_Mutation_p.L469P NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 469 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) ATGTGTAGTAAGGTTTGAGAA 0.383000 10 78 0 0 1 0 0 BNIP3P1 319138 broad.mit.edu 37 14 28734000 28734000 + RNA SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:28734000G>A ENST00000550043.1 + 0 405 CAGAGCTTCTGAAACAGATAC 0.473000 41 62 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34065794 34065794 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr15:34065794G>A ENST00000389232.4 + 64 9185 c.9115G>A c.(9115-9117)Gga>Aga p.G3039R RYR3_ENST00000415757.3_Missense_Mutation_p.G3039R NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3039 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) CCTTGGGACGGGAAAGAACAT 0.383000 9 9 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325035 150325035 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:150325035C>T ENST00000328902.5 - 3 867 c.651G>A c.(649-651)gaG>gaA p.E217E GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 217 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTTCAACTTTCTCCATGAGCT 0.517000 199 260 0 0 1 0 0 IL17RA 23765 broad.mit.edu 37 22 17589202 17589202 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:17589202C>T ENST00000319363.6 + 13 1226 c.1093C>T c.(1093-1095)Ctg>Ttg p.L365L NM_014339.5 NP_055154.3 Q96F46 I17RA_HUMAN interleukin 17 receptor A 365 fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) CTTAGATGGCCTGCCTGCGGC 0.627000 11 64 0 0 1 0 0 CCDC57 284001 broad.mit.edu 37 17 80153149 80153149 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:80153149C>T ENST00000389641.4 - 4 644 c.608G>A c.(607-609)cGg>cAg p.R203Q CCDC57_ENST00000392347.1_Missense_Mutation_p.R203Q|CCDC57_ENST00000392343.3_Missense_Mutation_p.R203Q Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 203 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) CTTAAGCTCCCGGGACAAGGC 0.532000 4 12 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19655436 19655436 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:19655436G>A ENST00000586018.1 + 8 2202 c.2100G>A c.(2098-2100)gaG>gaA p.E700E CILP2_ENST00000291495.4_Silent_p.E694E Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 694 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 GGGAGGAGGAGAGCGGCTTCC 0.721000 5 13 0 0 1 0 0 SHQ1 55164 broad.mit.edu 37 3 72890269 72890269 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:72890269G>A ENST00000325599.8 - 4 552 c.413C>T c.(412-414)tCa>tTa p.S138L SHQ1_ENST00000463369.1_Missense_Mutation_p.S110L NM_018130.2 NP_060600.2 Q6PI26 SHQ1_HUMAN SHQ1, H/ACA ribonucleoprotein assembly factor 138 ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) AGCACTTTCTGATACCTCTTC 0.413000 59 91 0 0 1 0 0 TNFAIP2 7127 broad.mit.edu 37 14 103601678 103601678 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:103601678C>T ENST00000560869.1 + 12 2585 c.1946C>T c.(1945-1947)tCc>tTc p.S649F TNFAIP2_ENST00000538222.1_Missense_Mutation_p.S132F|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.S649F|TNFAIP2_ENST00000451723.2_Missense_Mutation_p.S318F Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 649 angiogenesis|cell differentiation extracellular space NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 11 Melanoma(154;0.155) Epithelial(46;0.191) CCCCTATTTTCCCTTATAAAG 0.597000 102 132 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6919597 6919597 + Missense_Mutation SNP G G A rs143078439 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:6919597G>A ENST00000312053.4 + 13 1496 c.1459G>A c.(1459-1461)Gaa>Aaa p.E487K EMR1_ENST00000381407.5_Missense_Mutation_p.E346K|EMR1_ENST00000450315.3_Missense_Mutation_p.E310K|EMR1_ENST00000381404.4_Missense_Mutation_p.E435K|EMR1_ENST00000250572.8_Missense_Mutation_p.E487K NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 487 Ser/Thr-rich. 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) TGTGGGCATGGAATCGGTTTT 0.448000 28 96 0 0 1 0 0 ZNF649 65251 broad.mit.edu 37 19 52399744 52399744 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:52399744G>A ENST00000354957.3 - 4 503 c.219C>T c.(217-219)atC>atT p.I73I ZNF649_ENST00000600738.1_Silent_p.I73I|CTC-429C10.2_ENST00000600329.1_RNA NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 73 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) CTGGACTGTGGATTTCATCTT 0.498000 24 110 0 0 1 0 0 PIANP 196500 broad.mit.edu 37 12 6806467 6806467 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:6806467C>T ENST00000534837.1 - 3 738 c.509G>A c.(508-510)gGg>gAg p.G170E PIANP_ENST00000540656.1_Missense_Mutation_p.G170E|PIANP_ENST00000320591.5_Missense_Mutation_p.G170E NM_001244014.1 NP_001230943.1 PILR alpha associated neural protein CCCACGGCCCCCGAACAGGAA 0.607000 7 49 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50544627 50544627 + Splice_Site SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr15:50544627C>T ENST00000267845.3 - 9 1443 c.1041_splice c.e9+1 p.M347_splice HDC_ENST00000543581.1_Splice_Site_p.M347_splice NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 347 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) GGCCACTCACCATGAAGTCGG 0.597000 39 98 0 0 1 0 0 GORAB 92344 broad.mit.edu 37 1 170521301 170521301 + Silent SNP T T C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:170521301T>C ENST00000367763.3 + 5 903 c.883T>C c.(883-885)Ttg>Ctg p.L295L NM_152281.2 NP_689494.2 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting 295 Necessary for interaction with RCHY1. Golgi apparatus|nucleus endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 17 GTTGGAGGAGTTGATGCAACA 0.448000 13 71 0 0 1 0 0 NMUR1 10316 broad.mit.edu 37 2 232389930 232389930 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:232389930C>T ENST00000305141.4 - 3 1238 c.1105G>A c.(1105-1107)Gag>Aag p.E369K NM_006056.4 NP_006047.3 Q9HB89 NMUR1_HUMAN neuromedin U receptor 1 369 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1) 24 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) CACAGGGCCTCCTGGAAGGTC 0.652000 35 79 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82508724 82508724 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:82508724C>T ENST00000423517.2 - 10 13920 c.13583G>A c.(13582-13584)gGa>gAa p.G4528E PCLO_ENST00000333891.8_Missense_Mutation_p.G4528E|PCLO_ENST00000426442.2_5'UTR NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4440 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 TCCAATTTCTCCACTATGTCC 0.373000 21 24 0 0 1 0 0 SEMA6C 10500 broad.mit.edu 37 1 151105749 151105749 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:151105749G>A ENST00000341697.3 - 19 3695 c.2004C>T c.(2002-2004)tcC>tcT p.S668S Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 668 integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CCCCGTCCTTGGAGGGCGGCG 0.761000 5 31 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 6 105 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33644824 33644824 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:33644824G>A ENST00000242067.6 + 23 3171 c.2650G>A c.(2650-2652)Gga>Aga p.G884R BBS9_ENST00000350941.3_Missense_Mutation_p.G844R|BBS9_ENST00000355070.2_Missense_Mutation_p.G879R|BBS9_ENST00000354265.4_Missense_Mutation_p.G849R|BBS9_ENST00000396127.2_Missense_Mutation_p.G849R NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 884 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding p.G884R(1) BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) ACCCCTCCAAGGAGTCTCGGA 0.438000 Bardet-Biedl syndrome 46 115 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56386575 56386575 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:56386575G>A ENST00000355701.3 - 22 4928 c.4058C>T c.(4057-4059)tCt>tTt p.S1353F BZRAP1_ENST00000343736.4_Missense_Mutation_p.S1353F|BZRAP1_ENST00000268893.6_Missense_Mutation_p.S1293F NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1353 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GTCTCGGGAAGAACAGCCTGC 0.617000 31 95 0 0 1 0 0 SCN7A 6332 broad.mit.edu 37 2 167298082 167298082 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:167298082C>T ENST00000409855.1 - 14 2107 c.1981G>A c.(1981-1983)Gac>Aac p.D661N NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 661 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 CAGTCTTTGTCTATGTGGCAG 0.443000 33 53 0 0 1 0 0 FOXJ3 22887 broad.mit.edu 37 1 42671524 42671524 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:42671524G>A ENST00000372572.1 - 8 850 c.539C>T c.(538-540)cCa>cTa p.P180L FOXJ3_ENST00000545068.1_Missense_Mutation_p.P180L|FOXJ3_ENST00000372573.1_Missense_Mutation_p.P180L|FOXJ3_ENST00000361776.1_Intron|FOXJ3_ENST00000361346.1_Missense_Mutation_p.P180L NM_001198851.1 NP_001185780.1 Q9UPW0 FOXJ3_HUMAN forkhead box J3 180 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TATGCTATATGGAGTTGAGGC 0.348000 29 48 0 0 1 0 0 KIAA0247 9766 broad.mit.edu 37 14 70171406 70171406 + Silent SNP C C T rs150724393 by1000genomes TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:70171406C>T ENST00000342745.4 + 4 718 c.405C>T c.(403-405)ctC>ctT p.L135L NM_014734.3 NP_055549.1 Q92537 K0247_HUMAN KIAA0247 135 integral to membrane endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1) 10 all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196) TTCTCCTCCTCGTGGTGCTGT 0.527000 39 42 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120769243 120769243 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:120769243C>T ENST00000527524.2 + 12 1454 c.1167C>T c.(1165-1167)atC>atT p.I389I GRIK4_ENST00000438375.2_Silent_p.I389I Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 389 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) CTCCTCAGATCGGCCAGTGGC 0.602000 10 17 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109734536 109734536 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:109734536C>T ENST00000277225.5 + 8 6967 c.6678C>T c.(6676-6678)tcC>tcT p.S2226S ZNF462_ENST00000441147.2_Silent_p.S1132S|ZNF462_ENST00000542028.1_Silent_p.S183S|ZNF462_ENST00000457913.1_Silent_p.S2286S Q96JM2 ZN462_HUMAN zinc finger protein 462 2226 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 AAGACTGCTCCTTTTACACAG 0.512000 35 88 0 0 1 0 0 GPR78 27201 broad.mit.edu 37 4 8584333 8584333 + Silent SNP G G A rs140868152 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:8584333G>A ENST00000382487.4 + 2 1161 c.744G>A c.(742-744)gcG>gcA p.A248A GPR78_ENST00000509216.1_3'UTR NM_080819.4 NP_543009.2 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 248 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 TTGCTATTGCGACCTTCCTCA 0.622000 44 130 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9048527 9048527 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:9048527G>A ENST00000397910.4 - 5 33307 c.33104C>T c.(33103-33105)tCa>tTa p.S11035L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11037 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 TACCTCAGGTGAAACAGTTGG 0.483000 29 106 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141766505 141766505 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:141766505C>T ENST00000475668.2 + 41 4957 c.4903C>T c.(4903-4905)Cgg>Tgg p.R1635W MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1635 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) CACTGTTGTGCGGCCTCTGCT 0.483000 5 389 0 0 1 0 0 PRKG2 5593 broad.mit.edu 37 4 82013572 82013572 + Missense_Mutation SNP C C G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:82013572C>G ENST00000395578.1 - 18 2277 c.2161G>C c.(2161-2163)Gca>Cca p.A721P PRKG2_ENST00000545647.1_Missense_Mutation_p.A301P|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.A692P|PRKG2_ENST00000264399.1_Missense_Mutation_p.A721P Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 721 AGC-kinase C-terminal. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 AGGCTCCGTGCTTTCAGTCCC 0.383000 37 89 0 0 1 0 0 C15orf39 56905 broad.mit.edu 37 15 75499397 75499397 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr15:75499397C>T ENST00000360639.2 + 2 1328 c.1008C>T c.(1006-1008)ccC>ccT p.P336P C15orf39_ENST00000567617.1_Silent_p.P336P|C15orf39_ENST00000394987.4_Silent_p.P336P Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 336 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 CTTACATTCCCCCACTGGGGC 0.687000 57 124 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701771 56701771 + Missense_Mutation SNP A A T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:56701771A>T ENST00000586855.2 - 5 1226 c.913T>A c.(913-915)Tcc>Acc p.S305T ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.S305T A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 305 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TGGGAAATGGAGGAGGCATCT 0.532000 71 163 0 0 1 0 0 TPK1 27010 broad.mit.edu 37 7 144228212 144228212 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:144228212G>A ENST00000549981.1 - 11 1036 c.313C>T c.(313-315)Cca>Tca p.P105S TPK1_ENST00000378099.3_Intron|TPK1_ENST00000360057.3_Intron|TPK1_ENST00000538212.2_Intron|TPK1_ENST00000547966.1_Intron Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 0 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) attagtcttgggacgggatta 0.403000 4 8 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101200091 101200091 + Missense_Mutation SNP C C A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:101200091C>A ENST00000294728.2 + 8 1927 c.1826C>A c.(1825-1827)cCt>cAt p.P609H VCAM1_ENST00000370119.4_Missense_Mutation_p.P547H|VCAM1_ENST00000370115.1_Missense_Mutation_p.P410H|VCAM1_ENST00000347652.2_Missense_Mutation_p.P517H NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 609 Ig-like C2-type 7. 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) ACAGCTTTTCCTTCTGAGAGT 0.358000 32 58 2.47316e-13 2.51019e-13 1 1 0 VWF 7450 broad.mit.edu 37 12 6091156 6091156 + Splice_Site SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:6091156G>A ENST00000261405.5 - 42 7337 c.7081_splice c.e42-1 p.A2361_splice NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2361 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) CCTTCCTGCAGGCTGAGGGTA 0.582000 24 42 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058366 152058366 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:152058366C>T ENST00000368806.1 - 3 1856 c.1792G>A c.(1792-1794)Gga>Aga p.G598R NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 598 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CCAGGTGTTCCCTGCCTCTGG 0.552000 85 193 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9084569 9084569 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:9084569G>A ENST00000397910.4 - 1 7449 c.7246C>T c.(7246-7248)Ccc>Tcc p.P2416S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2416 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 GTAGATGTGGGAACCTGGGGT 0.493000 11 38 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24537739 24537739 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:24537739G>A ENST00000264463.4 - 3 783 c.276C>T c.(274-276)atC>atT p.I92I NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 92 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CTCCAGATAAGATATATTTGA 0.368000 HNSCC(23;0.051) 8 71 0 0 1 0 0 CD38 952 broad.mit.edu 37 4 15841660 15841660 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:15841660G>A ENST00000226279.2 + 6 808 c.671G>A c.(670-672)aGt>aAt p.S224N NM_001775.2 NP_001766.2 P28907 CD38_HUMAN CD38 molecule 224 B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1) 14 ACTTTTGGGAGTGTGGAAGTC 0.453000 66 207 0 0 1 0 0 SLC36A2 153201 broad.mit.edu 37 5 150723809 150723809 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:150723809G>A ENST00000335244.4 - 2 313 c.184C>T c.(184-186)Cac>Tac p.H62Y SLC36A2_ENST00000521967.1_Missense_Mutation_p.H62Y NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 62 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCACCAGGTGAATCAAGGCC 0.562000 11 34 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46900687 46900687 + Missense_Mutation SNP G G C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr21:46900687G>C ENST00000359759.4 + 12 2792 c.2771G>C c.(2770-2772)gGg>gCg p.G924A COL18A1_ENST00000400337.2_Missense_Mutation_p.G509A|COL18A1_ENST00000355480.5_Missense_Mutation_p.G689A P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 924 Triple-helical region 3 (COL3). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GGCCGCTTTGGGGTGAACAGC 0.711000 5 59 0 0 1 0 0 RASAL3 64926 broad.mit.edu 37 19 15564297 15564297 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:15564297C>T ENST00000343625.6 - 15 2371 c.2291G>A c.(2290-2292)gGg>gAg p.G764E NM_022904.1 NP_075055.1 Q86YV0 RASL3_HUMAN RAS protein activator like 3 764 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 GGGCTTCTCCCCTGCGGAGAG 0.662000 3 9 0 0 1 0 0 OR51A4 401666 broad.mit.edu 37 11 4968024 4968024 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:4968024C>T ENST00000380373.2 - 1 332 c.307G>A c.(307-309)Gaa>Aaa p.E103K MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGAAGAATTCCTGGGCAAAG 0.443000 62 242 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37442569 37442569 + Missense_Mutation SNP A A C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr10:37442569A>C ENST00000374660.1 + 13 1708 c.1609A>C c.(1609-1611)Aaa>Caa p.K537Q ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K537Q|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K537Q Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 593 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AGAAATAGATAAAATAAATGG 0.318000 38 113 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32351572 32351572 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr13:32351572C>T ENST00000298386.2 + 8 772 c.701C>T c.(700-702)tCc>tTc p.S234F RXFP2_ENST00000380314.1_Missense_Mutation_p.S234F NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 234 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) GGATTAAATTCCTTGTTTTTC 0.313000 11 18 0 0 1 0 0 ZNF404 342908 broad.mit.edu 37 19 44377640 44377640 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:44377640G>A ENST00000587539.1 - 3 725 c.726C>T c.(724-726)ccC>ccT p.P242P ZNF404_ENST00000324394.6_Silent_p.P240P NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 242 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) TACATTCAAAGGGTTTCAAGC 0.373000 52 85 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152621832 152621832 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:152621832G>A ENST00000367255.5 - 93 18227 c.17626C>T c.(17626-17628)Cca>Tca p.P5876S SYNE1_ENST00000265368.4_Missense_Mutation_p.P5876S|SYNE1_ENST00000341594.5_Missense_Mutation_p.P5488S|SYNE1_ENST00000356820.4_Missense_Mutation_p.P400S|SYNE1_ENST00000448038.1_Missense_Mutation_p.P5805S|SYNE1_ENST00000423061.1_Missense_Mutation_p.P5805S NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5876 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CAGGCAGGTGGAGAGGAAATC 0.527000 HNSCC(10;0.0054) 24 56 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1267247 1267247 + Missense_Mutation SNP G G T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:1267247G>T ENST00000447027.1 + 31 9204 c.9146G>T c.(9145-9147)aGg>aTg p.R3049M MUC5B_ENST00000529681.1_Missense_Mutation_p.R3046M|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3046 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TCCAGTCCAAGGACTGCAACC 0.612000 37 153 2.37825e-27 2.42945e-27 1 1 0 CTSG 1511 broad.mit.edu 37 14 25043576 25043576 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:25043576C>T ENST00000216336.2 - 4 505 c.469G>A c.(469-471)Gat>Aat p.D157N NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 157 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) CGGAGTGTATCTGTTCCCCTC 0.637000 62 84 0 0 1 0 0 ZNF273 10793 broad.mit.edu 37 7 64389396 64389396 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:64389396C>T ENST00000476120.1 + 4 1761 c.1690C>T c.(1690-1692)Cat>Tat p.H564Y ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.H499Y NM_021148.2 NP_066971.2 Q14593 ZN273_HUMAN zinc finger protein 273 564 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(55;0.0295)|all_lung(88;0.0691) TAAAAGAAATCATATGGGTGA 0.348000 33 91 0 0 1 0 0 STXBP1 6812 broad.mit.edu 37 9 130434349 130434349 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:130434349C>T ENST00000373302.3 + 12 1122 c.983C>T c.(982-984)tCc>tTc p.S328F STXBP1_ENST00000373299.1_Missense_Mutation_p.S328F|STXBP1_ENST00000481942.1_3'UTR NM_003165.3 NP_003156.1 P61764 STXB1_HUMAN syntaxin binding protein 1 328 axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex identical protein binding|syntaxin-1 binding|syntaxin-2 binding breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2) 23 CGGGACCTGTCCCAGATGCTG 0.493000 27 59 0 0 1 0 0 PUS10 150962 broad.mit.edu 37 2 61189966 61189966 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:61189966G>A ENST00000316752.6 - 9 1044 c.783C>T c.(781-783)ttC>ttT p.F261F PUS10_ENST00000407787.1_Silent_p.F261F NM_144709.2 NP_653310.2 Q3MIT2 PUS10_HUMAN pseudouridylate synthase 10 261 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2) 22 LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113) CTTACTTAAGGAAATCCTCTT 0.313000 4 25 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3978583 3978583 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:3978583G>A ENST00000381638.2 - 22 3499 c.3375C>T c.(3373-3375)ttC>ttT p.F1125F NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1125 calcium ion binding|zinc ion binding p.F1125F(1) central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 ACCTGTCATCGAATTCCACTT 0.418000 OREG0024096 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 101 0 0 1 0 0 PAX8 7849 broad.mit.edu 37 2 113993097 113993097 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:113993097G>A ENST00000429538.3 - 9 1155 c.961C>T c.(961-963)Cct>Tct p.P321S PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000348715.5_Intron|PAX8_ENST00000263334.5_Intron|PAX8_ENST00000397647.3_Intron NM_003466.3 NP_003457.1 Q06710 PAX8_HUMAN paired box 8 321 Ser-rich. branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity PAX8/PPARG(117) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1) 20 AAAGAGGAAGGGGTGGAGCTA 0.592000 T PPARG follicular thyroid Thyroid dysgenesis 8 38 0 0 1 0 0 TYRP1 7306 broad.mit.edu 37 9 12695653 12695653 + Missense_Mutation SNP A A T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:12695653A>T ENST00000388918.5 + 3 653 c.524A>T c.(523-525)aAc>aTc p.N175I TYRP1_ENST00000381137.2_5'UTR NM_000550.2 NP_000541.1 P17643 TYRP1_HUMAN tyrosinase-related protein 1 175 melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1) 22 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) CCAGATGGCAACACGCCACAA 0.443000 Oculocutaneous Albinism 48 69 0 0 1 0 0 ZNF211 10520 broad.mit.edu 37 19 58153404 58153404 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:58153404C>T ENST00000544273.1 + 5 1913 c.1586C>T c.(1585-1587)tCc>tTc p.S529F ZNF211_ENST00000240731.4_Missense_Mutation_p.S530F|ZNF211_ENST00000299871.5_Missense_Mutation_p.S582F|ZNF211_ENST00000391703.3_Missense_Mutation_p.S456F|ZNF211_ENST00000254182.7_Missense_Mutation_p.S508F|ZNF211_ENST00000347302.3_Missense_Mutation_p.S517F|ZNF211_ENST00000541801.1_Missense_Mutation_p.S508F|ZNF211_ENST00000420680.1_Missense_Mutation_p.S521F Q13398 ZN211_HUMAN zinc finger protein 211 517 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGTGGGAAATCCTTTAGCCAA 0.433000 44 161 0 0 1 0 0 CRYGD 1421 broad.mit.edu 37 2 208986558 208986558 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:208986558G>A ENST00000264376.4 - 3 391 c.364C>T c.(364-366)Cac>Tac p.H122Y NM_006891.3 NP_008822.2 P07320 CRGD_HUMAN crystallin, gamma D 122 Beta/gamma crystallin 'Greek key' 3. cellular response to reactive oxygen species|visual perception soluble fraction protein binding|structural constituent of eye lens breast(1)|endometrium(1)|lung(3) 5 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) TTGAGGGAGTGGATTTCATTG 0.557000 27 171 0 0 1 0 0 LPAR4 2846 broad.mit.edu 37 X 78010424 78010424 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chrX:78010424C>T ENST00000435339.2 + 2 463 c.58C>T c.(58-60)Ccc>Tcc p.P20S LPAR4_ENST00000373301.2_Missense_Mutation_p.P20S|RP11-475D8.1_ENST00000514744.1_RNA NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 20 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 AAGCCTCAGACCCAGGTTGGG 0.438000 60 49 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135610433 135610433 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:135610433G>A ENST00000513104.1 - 4 1338 c.1056C>T c.(1054-1056)ttC>ttT p.F352F TRPC7_ENST00000355180.3_Silent_p.F291F|TRPC7_ENST00000426057.2_Intron NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 352 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGACAGCCAGGAATTTCACAG 0.468000 8 29 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156643249 156643249 + Nonsense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:156643249G>A ENST00000368223.3 - 3 1111 c.979C>T c.(979-981)Cag>Tag p.Q327* NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 327 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTCTTACCCTGAAAGCTGAGG 0.557000 57 106 0 0 1 0 0 FAM3B 54097 broad.mit.edu 37 21 42720628 42720628 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr21:42720628C>T ENST00000398652.3 + 8 778 c.712C>T c.(712-714)Cct>Tct p.P238S FAM3B_ENST00000398647.3_Missense_Mutation_p.P151S|FAM3B_ENST00000357985.2_Missense_Mutation_p.P199S|FAM3B_ENST00000398646.3_Missense_Mutation_p.P222S|FAM3B_ENST00000479810.2_3'UTR P58499 FAM3B_HUMAN family with sequence similarity 3, member B 199 apoptosis|insulin secretion extracellular space cytokine activity central_nervous_system(2)|endometrium(1)|lung(2) 5 Prostate(19;1.57e-07)|all_epithelial(19;0.0404) CTTGGAACTCCCTTCCGAAAT 0.433000 27 67 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126373088 126373088 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:126373088G>A ENST00000394329.3 + 9 10930 c.10917G>A c.(10915-10917)caG>caA p.Q3639Q FAT4_ENST00000335110.5_Silent_p.Q1937Q NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3639 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 TGAAGCCACAGGATCCAGATG 0.458000 48 115 0 0 1 0 0 CA6 765 broad.mit.edu 37 1 9018991 9018991 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:9018991C>T ENST00000377443.2 + 4 435 c.431C>T c.(430-432)tCt>tTt p.S144F CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377436.3_Missense_Mutation_p.S144F|CA6_ENST00000377442.2_Missense_Mutation_p.S84F NM_001215.3 NP_001206.2 P23280 CAH6_HUMAN carbonic anhydrase VI 144 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding p.S144F(1) 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) CACTACAATTCTAAATACAAG 0.438000 128 264 0 0 1 0 0 LUM 4060 broad.mit.edu 37 12 91502687 91502687 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:91502687C>T ENST00000266718.4 - 2 524 c.70G>A c.(70-72)Gat>Aat p.D24N LUM_ENST00000548071.1_Intron NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 24 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 AGGGGAAAATCATAATCATAG 0.413000 18 61 0 0 1 0 0 PSMB4 5692 broad.mit.edu 37 1 151372153 151372153 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:151372153C>T ENST00000290541.6 + 1 144 c.90C>T c.(88-90)tcC>tcT p.S30S NM_002796.2 NP_002787.2 P28070 PSB4_HUMAN proteasome (prosome, macropain) subunit, beta type, 4 30 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1) 14 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CTCCCGATTCCTTCATGGATC 0.612000 70 232 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107052681 107052681 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:107052681C>T ENST00000409886.3 - 12 1743 c.1656G>A c.(1654-1656)ttG>ttA p.L552L RGPD3_ENST00000304514.7_Silent_p.L552L NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 552 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CTAGAAGTCTCAATTTTGCTG 0.363000 44 137 0 0 1 0 0 MEIS1 4211 broad.mit.edu 37 2 66670075 66670075 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:66670075C>T ENST00000488550.1 + 6 824 c.525C>T c.(523-525)agC>agT p.S175S MEIS1_ENST00000560281.2_Silent_p.S175S|MEIS1_ENST00000398506.2_Silent_p.S173S|MEIS1_ENST00000444274.2_Silent_p.S143S|MEIS1_ENST00000272369.9_Silent_p.S175S|MEIS1_ENST00000495021.2_Silent_p.S110S|MEIS1_ENST00000407092.2_Silent_p.S175S O00470 MEIS1_HUMAN Meis homeobox 1 175 sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 24 GGTATATTAGCTGTTTGAAAG 0.353000 72 222 0 0 1 0 0 PHF21B 112885 broad.mit.edu 37 22 45312478 45312478 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:45312478G>A ENST00000313237.5 - 4 396 c.246C>T c.(244-246)ctC>ctT p.L82L PHF21B_ENST00000396103.3_Silent_p.L82L|PHF21B_ENST00000404079.2_Silent_p.L70L|PHF21B_ENST00000447824.3_Silent_p.L70L|PHF21B_ENST00000403565.1_5'UTR NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 82 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) GGGCAACGGGGAGGCTGTCTG 0.657000 52 90 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50534838 50534838 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr15:50534838C>T ENST00000267845.3 - 12 2010 c.1608G>A c.(1606-1608)agG>agA p.R536R HDC_ENST00000543581.1_Silent_p.R503R NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 536 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) GGCCATTTTCCCTTTTCATGG 0.557000 33 98 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72197010 72197010 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:72197010C>T ENST00000555818.1 + 18 5264 c.4916C>T c.(4915-4917)tCg>tTg p.S1639L SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1618L|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1618L|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S1093L NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1639 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GGAATGAAATCGCTGCATGGT 0.567000 61 78 0 0 1 0 0 ADCK4 79934 broad.mit.edu 37 19 41206328 41206328 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:41206328G>A ENST00000324464.3 - 11 1223 c.922C>T c.(922-924)Cgg>Tgg p.R308W ADCK4_ENST00000243583.6_Missense_Mutation_p.R267W|ADCK4_ENST00000450541.1_Missense_Mutation_p.R267W NM_024876.3 NP_079152.3 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 308 Protein kinase. integral to membrane protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1) 17 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) GCTGGGACCCGGAAGAAGGGG 0.632000 16 40 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121745792 121745792 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:121745792C>T ENST00000452319.1 + 14 2362 c.2302C>T c.(2302-2304)Ctg>Ttg p.L768L GLI2_ENST00000314490.11_Silent_p.L440L|GLI2_ENST00000361492.4_Silent_p.L768L P10070 GLI2_HUMAN GLI family zinc finger 2 768 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) AGGCTCCATCCTGGAAAACTT 0.687000 18 51 0 0 1 0 0 CCDC64B 146439 broad.mit.edu 37 16 3079316 3079316 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:3079316C>T ENST00000573514.1 - 5 2641 c.451G>A c.(451-453)Gag>Aag p.E151K CCDC64B_ENST00000389347.4_Missense_Mutation_p.E358K|CCDC64B_ENST00000572449.1_Missense_Mutation_p.E358K A1A5D9 BICR2_HUMAN coiled-coil domain containing 64B 358 breast(1)|endometrium(2)|large_intestine(1) 4 ACCTCCTTCTCCTCCAGTATC 0.607000 5 25 0 0 1 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269289 150269289 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:150269289G>A ENST00000255945.2 + 3 306 c.131G>A c.(130-132)aGt>aAt p.S44N GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.S58N NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 44 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCAGGAAAAAGTGCAACAGGA 0.463000 18 130 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103090133 103090133 + Translation_Start_Site SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:103090133G>A ENST00000295269.4 + 0 372 NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 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 GACCCAGGTGGATGCAGTCAC 0.493000 12 28 0 0 1 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735637 55735637 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:55735637C>T ENST00000312345.2 - 1 353 c.303G>A c.(301-303)acG>acA p.T101T NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) GGAGACACTCCGTGCCTCCAA 0.428000 5 92 0 0 1 0 0 CENPO 79172 broad.mit.edu 37 2 25037352 25037352 + Silent SNP T T C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:25037352T>C ENST00000380834.2 + 4 749 c.324T>C c.(322-324)taT>taC p.Y108Y CENPO_ENST00000260662.1_Silent_p.Y108Y|CENPO_ENST00000473706.1_Silent_p.Y102Y Q9BU64 CENPO_HUMAN centromere protein O 108 cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) TGCAGGCATATCATTTTACAG 0.373000 4 164 0 0 1 0 0 C14orf166B 145497 broad.mit.edu 37 14 77294658 77294658 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:77294658G>A ENST00000393774.3 + 2 237 c.113G>A c.(112-114)cGa>cAa p.R38Q C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Missense_Mutation_p.R21Q NM_194287.2 NP_919263.2 Q0VAA2 CN16B_HUMAN chromosome 14 open reading frame 166B 38 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) GAGCCAGTACGACAGAGCAGC 0.498000 20 33 0 0 1 0 0 SLC26A5 375611 broad.mit.edu 37 7 103038419 103038419 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:103038419C>T ENST00000306312.3 - 9 1192 c.931G>A c.(931-933)Gaa>Aaa p.E311K SLC26A5_ENST00000339444.6_Missense_Mutation_p.E311K|SLC26A5_ENST00000393723.1_Missense_Mutation_p.E311K|SLC26A5_ENST00000393729.1_Missense_Mutation_p.E274K|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393735.2_Missense_Mutation_p.E311K|SLC26A5_ENST00000393730.1_Missense_Mutation_p.E311K|SLC26A5_ENST00000432958.2_Missense_Mutation_p.E311K|SLC26A5_ENST00000356767.4_Missense_Mutation_p.E311K|SLC26A5_ENST00000393727.1_Missense_Mutation_p.E311K NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 311 regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity p.E311Q(1) endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 TTGTATGATTCTTTCAAGTTA 0.373000 29 130 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8661969 8661969 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:8661969G>A ENST00000270328.4 - 7 1208 c.942C>T c.(940-942)ttC>ttT p.F314F ADAMTS10_ENST00000597188.1_Silent_p.F314F Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 314 Peptidase M12B. 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 GCCACTTACAGAAGCTGTCCA 0.587000 21 104 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30955860 30955860 + Silent SNP T T A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:30955860T>A ENST00000376296.3 + 3 1831 c.1590T>A c.(1588-1590)ccT>ccA p.P530P MUC21_ENST00000486149.2_Silent_p.P76P NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 530 Cytoplasmic tail. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 GTCCAGGCCCTGGAGGGAATC 0.547000 30 81 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802974 185802974 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:185802974C>T ENST00000302277.6 + 4 3445 c.2851C>T c.(2851-2853)Cct>Tct p.P951S NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 951 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 AAAGCAAATTCCTTTTCAGGT 0.388000 26 90 0 0 1 0 0 DEPTOR 64798 broad.mit.edu 37 8 120886146 120886146 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:120886146C>T ENST00000286234.5 + 1 190 c.60C>T c.(58-60)ggC>ggT p.G20G DEPTOR_ENST00000523492.1_Silent_p.G20G|KB-1471A8.1_ENST00000500705.3_lincRNA NM_022783.2 NP_073620.2 Q8TB45 DPTOR_HUMAN DEP domain containing MTOR-interacting protein 20 intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 18 GCGGGAGTGGCGGGGCGCAGC 0.657000 4 92 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152193161 152193161 + Missense_Mutation SNP C C A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:152193161C>A ENST00000368801.2 - 3 1019 c.944G>T c.(943-945)gGt>gTt p.G315V FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 315 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) GTGCCCCGAACCGGACCCATG 0.602000 83 255 1.11057e-38 1.13693e-38 1 1 0 TENM3 55714 broad.mit.edu 37 4 183713475 183713475 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:183713475G>A ENST00000511685.1 + 26 5773 c.5650G>A c.(5650-5652)Gat>Aat p.D1884N TENM3_ENST00000406950.2_Missense_Mutation_p.D1884N teneurin transmembrane protein 3 CTTCGAATACGATATGTGGGA 0.502000 39 41 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32187988 32187988 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:32187988G>A ENST00000375023.3 - 7 1371 c.1233C>T c.(1231-1233)ccC>ccT p.P411P NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 411 EGF-like 10. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 AGCCTGTGAGGGGGTTGGTGC 0.627000 39 94 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66502032 66502032 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:66502032C>T ENST00000383703.3 - 3 919 c.316G>A c.(316-318)Gcg>Acg p.A106T LRIG1_ENST00000273261.3_Missense_Mutation_p.A106T Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 106 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GATGGTACCGCTGTCAACTCA 0.443000 67 77 0 0 1 0 0 SOX7 83595 broad.mit.edu 37 8 10583362 10583362 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:10583362G>A ENST00000304501.1 - 2 1131 c.1053C>T c.(1051-1053)ctC>ctT p.L351L SOX7_ENST00000554914.1_Silent_p.L403L|SOX7_ENST00000553390.1_Silent_p.L403L NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 351 Sox C-terminal. endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) CATGCCCACTGAGGGCCATGG 0.602000 27 41 0 0 1 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202403897 202403897 + Splice_Site SNP G G A rs145788822 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:202403897G>A ENST00000406302.3 + 9 1407 c.e9+1 PPP1R12B_ENST00000480184.1_Splice_Site|PPP1R12B_ENST00000356764.2_Intron|PPP1R12B_ENST00000336894.4_Splice_Site NM_001197131.1|NM_002481.3 NP_001184060.1|NP_002472.2 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) TGCTAGGAGGGTGAGTACTTT 0.393000 14 63 0 0 1 0 0 GLYAT 10249 broad.mit.edu 37 11 58477327 58477327 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:58477327C>T ENST00000344743.3 - 6 944 c.803G>A c.(802-804)aGc>aAc p.S268N GLYAT_ENST00000529732.1_Missense_Mutation_p.S268N NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 268 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) AGCTTCATTGCTGTAGTCTAC 0.473000 21 67 0 0 1 0 0 KIAA1958 158405 broad.mit.edu 37 9 115421707 115421707 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:115421707C>T ENST00000337530.6 + 4 1805 c.1509C>T c.(1507-1509)ttC>ttT p.F503F KIAA1958_ENST00000536272.1_Silent_p.F531F NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 503 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 GCAGCACCTTCAGCTCCTCCA 0.582000 30 43 0 0 1 0 0 BBOX1 8424 broad.mit.edu 37 11 27114756 27114756 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:27114756G>A ENST00000263182.3 + 5 744 c.376G>A c.(376-378)Gat>Aat p.D126N BBOX1_ENST00000525090.1_Missense_Mutation_p.D126N|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.D126N|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.D126N|BBOX1_ENST00000527505.1_Intron NM_003986.2 NP_003977.1 O75936 BODG_HUMAN butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 126 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) ACCCACTTTGGATTTTGAAGA 0.408000 22 33 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66469107 66469107 + RNA SNP C C A rs146923748 by1000genomes TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:66469107C>A ENST00000424345.1 + 0 2674 TAAGCATGGACATATTGAAGA 0.358000 3 12 0.014758 0.0147892 1 1 0 SSPO 23145 broad.mit.edu 37 7 149520532 149520532 + RNA SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:149520532G>A ENST00000378016.2 + 0 13350 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) AGCTCTGCCAGGACCTGCCAC 0.652000 18 126 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10300146 10300146 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:10300146C>T ENST00000403437.2 - 31 4430 c.4336G>A c.(4336-4338)Gat>Aat p.D1446N CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1446 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 TGCTTCTTATCAAGGGCTGCA 0.448000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 41 94 0 0 1 0 0 CACNB2 783 broad.mit.edu 37 10 18827157 18827157 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr10:18827157G>A ENST00000396576.2 + 12 1687 c.1186G>A c.(1186-1188)Gag>Aag p.E396K CACNB2_ENST00000352115.6_Missense_Mutation_p.E427K|CACNB2_ENST00000377328.1_Missense_Mutation_p.E201K|CACNB2_ENST00000282343.8_Missense_Mutation_p.E423K|CACNB2_ENST00000377329.4_Missense_Mutation_p.E397K|CACNB2_ENST00000324631.7_Missense_Mutation_p.E451K|CACNB2_ENST00000377331.2_Missense_Mutation_p.E399K|CACNB2_ENST00000377315.4_Missense_Mutation_p.E403K|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377319.3_Missense_Mutation_p.E358K NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 451 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) GGATGCCTGTGAGCACCTTGC 0.557000 72 101 0 0 1 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 158980379 158980379 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:158980379C>T ENST00000485419.1 + 4 367 c.198C>T c.(196-198)ccC>ccT p.P66P IQCJ_ENST00000397832.2_Silent_p.P66P|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.P39P|IQCJ_ENST00000482126.1_Silent_p.P39P|IQCJ_ENST00000481796.1_3'UTR|IQCJ_ENST00000451172.1_Silent_p.P66P|IQCJ-SCHIP1_ENST00000467442.1_3'UTR NM_001197113.1 NP_001184042.1 Q9P0W5 SCHI1_HUMAN 0 Ser-rich. cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 GGCAGGAGCCCCTGGGGAAGA 0.537000 36 123 0 0 1 0 0 LHX4 89884 broad.mit.edu 37 1 180217425 180217425 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:180217425C>T ENST00000263726.2 + 2 326 c.82C>T c.(82-84)Ccc>Tcc p.P28S NM_033343.3 NP_203129.1 Q969G2 LHX4_HUMAN LIM homeobox 4 28 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1) 16 CACAGAGATTCCCCAGTGCGC 0.602000 12 30 0 0 1 0 0 PADI4 23569 broad.mit.edu 37 1 17690103 17690103 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:17690103G>A ENST00000375448.4 + 16 1871 c.1845G>A c.(1843-1845)aaG>aaA p.K615K NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 615 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) TGGAGGAGAAGGTGTGTTCCC 0.617000 27 42 0 0 1 0 0 GCKR 2646 broad.mit.edu 37 2 27730158 27730158 + Missense_Mutation SNP A A G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:27730158A>G ENST00000264717.2 + 13 1186 c.1123A>G c.(1123-1125)Aag>Gag p.K375E GCKR_ENST00000424318.2_Missense_Mutation_p.K185E NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 375 SIS 2. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) GTTTAACCAGAAGGCTGAGCT 0.502000 42 352 0 0 1 0 0 RASSF9 9182 broad.mit.edu 37 12 86198758 86198758 + Missense_Mutation SNP T T G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:86198758T>G ENST00000361228.3 - 2 1398 c.1030A>C c.(1030-1032)Aaa>Caa p.K344Q NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 344 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCACTGTATTTAATCTCTTTC 0.378000 40 295 0 0 1 0 0 HEATR6 63897 broad.mit.edu 37 17 58123502 58123502 + Missense_Mutation SNP A A G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:58123502A>G ENST00000184956.6 - 19 2874 c.2858T>C c.(2857-2859)aTt>aCt p.I953T HEATR6_ENST00000585976.1_Missense_Mutation_p.I841T NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 953 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) AGACTCCTCAATGATTTCTGC 0.388000 46 85 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70066717 70066717 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:70066717C>T ENST00000330891.5 - 8 1122 c.896G>A c.(895-897)gGa>gAa p.G299E BEST3_ENST00000553096.1_Missense_Mutation_p.G193E|BEST3_ENST00000488961.1_Missense_Mutation_p.G86E|BEST3_ENST00000331471.4_Missense_Mutation_p.G299E|BEST3_ENST00000476098.1_Missense_Mutation_p.G86E NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 299 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) ATCATCTTCTCCAAAAGGGTT 0.328000 20 41 0 0 1 0 0 UBE4B 10277 broad.mit.edu 37 1 10228307 10228307 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:10228307C>T ENST00000377157.3 + 23 3638 c.2577C>T c.(2575-2577)gtC>gtT p.V859V UBE4B_ENST00000343090.6_Silent_p.V1104V|UBE4B_ENST00000253251.8_Silent_p.V975V NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 1104 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) CGAAGCAGGTCCAGAAGCCCT 0.542000 26 41 0 0 1 0 0 WWC1 23286 broad.mit.edu 37 5 167841479 167841479 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:167841479C>T ENST00000265293.4 + 9 1570 c.1068C>T c.(1066-1068)ttC>ttT p.F356F WWC1_ENST00000521089.1_Silent_p.F356F NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 356 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) AGATGCGCTTCATCAGCCCCC 0.637000 3 7 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10715808 10715808 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:10715808G>A ENST00000377022.3 - 9 1880 c.1563C>T c.(1561-1563)tcC>tcT p.S521S CASZ1_ENST00000344008.5_Silent_p.S521S NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 521 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CGTGCTGCAGGGAGTTGTCGC 0.602000 30 65 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75055654 75055654 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:75055654C>T ENST00000326665.5 - 12 2055 c.1837G>A c.(1837-1839)Gaa>Aaa p.E613K RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.E416K NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 613 Glu-rich. 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 CTGGCACTTTCATCTGTGCTG 0.448000 36 83 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139189598 139189598 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:139189598C>T ENST00000395297.1 - 11 1265 c.1095G>A c.(1093-1095)caG>caA p.Q365Q NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 365 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) ACAGATTCTCCTGAAATGTCA 0.418000 HNSCC(54;0.14) 14 43 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23527429 23527429 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:23527429G>A ENST00000296682.3 + 11 2414 c.2232G>A c.(2230-2232)ggG>ggA p.G744G NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 744 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CACACACAGGGGAGAAGCCCT 0.577000 HNSCC(3;0.000094) 38 150 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121641968 121641968 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:121641968G>A ENST00000489711.1 + 10 1337 c.949G>A c.(949-951)Gat>Aat p.D317N SLC15A2_ENST00000295605.2_Missense_Mutation_p.D286N NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 317 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) GGCTCTTTTGGATCAGCAGGT 0.453000 53 146 0 0 1 0 0 SERPINB4 6318 broad.mit.edu 37 18 61310445 61310445 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr18:61310445G>A ENST00000341074.5 - 3 287 c.172C>T c.(172-174)Cac>Tac p.H58Y SERPINB4_ENST00000356424.6_Missense_Mutation_p.H58Y NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 TGATCAAAGTGAAGAACCTGG 0.438000 27 58 0 0 1 0 0 IKZF3 22806 broad.mit.edu 37 17 37949117 37949117 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:37949117C>T ENST00000346872.3 - 4 294 c.233G>A c.(232-234)gGa>gAa p.G78E IKZF3_ENST00000377945.3_Missense_Mutation_p.G78E|IKZF3_ENST00000467757.1_Missense_Mutation_p.G78E|IKZF3_ENST00000439167.2_Missense_Mutation_p.G44E|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000377958.2_Intron|IKZF3_ENST00000351680.3_Missense_Mutation_p.G78E|IKZF3_ENST00000350532.3_Missense_Mutation_p.G78E|IKZF3_ENST00000346243.3_Missense_Mutation_p.G78E|IKZF3_ENST00000535189.1_Missense_Mutation_p.G44E|IKZF3_ENST00000439016.2_Missense_Mutation_p.G78E NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 78 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TTCTGCATTTCCCATGGGTTC 0.353000 36 86 0 0 1 0 0 UCK2 7371 broad.mit.edu 37 1 165860484 165860484 + Missense_Mutation SNP T T A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:165860484T>A ENST00000367879.4 + 3 584 c.281T>A c.(280-282)aTt>aAt p.I94N UCK2_ENST00000372212.4_Missense_Mutation_p.I94N NM_012474.4 NP_036606.2 Q9BZX2 UCK2_HUMAN uridine-cytidine kinase 2 94 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) AATGAACTCATTCTCAAAACA 0.388000 20 36 0 0 1 0 0 NOG 9241 broad.mit.edu 37 17 54671944 54671944 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:54671944C>T ENST00000332822.4 + 1 885 c.360C>T c.(358-360)atC>atT p.I120I NM_005450.4 NP_005441.1 Q13253 NOGG_HUMAN noggin 120 BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing extracellular space cytokine binding|protein homodimerization activity ovary(1) 1 Breast(9;5.24e-08) CGAGCGAGATCAAAGGGCTAG 0.687000 10 24 0 0 1 0 0 MARCH10 162333 broad.mit.edu 37 17 60837289 60837289 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:60837289G>A ENST00000544856.2 - 5 667 c.289C>T c.(289-291)Cca>Tca p.P97S MARCH10_ENST00000583600.1_Missense_Mutation_p.P97S|MARCH10_ENST00000456609.2_Missense_Mutation_p.P97S|MARCH10_ENST00000311269.5_Missense_Mutation_p.P97S Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 97 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 TCAATTGCTGGAAGTTTGGAG 0.428000 36 125 0 0 1 0 0 RTN4 57142 broad.mit.edu 37 2 55200318 55200318 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:55200318G>A ENST00000337526.6 - 9 3796 c.3553C>T c.(3553-3555)Cct>Tct p.P1185S RTN4_ENST00000486085.1_5'UTR|RTN4_ENST00000317610.7_Missense_Mutation_p.P366S|RTN4_ENST00000404909.1_Missense_Mutation_p.P979S|RTN4_ENST00000405240.1_Missense_Mutation_p.P979S|RTN4_ENST00000402434.2_Missense_Mutation_p.P338S|RTN4_ENST00000394609.2_Missense_Mutation_p.P192S|RTN4_ENST00000394611.2_Missense_Mutation_p.P979S|RTN4_ENST00000357732.4_Missense_Mutation_p.P385S|RTN4_ENST00000357376.3_Missense_Mutation_p.P979S|RTN4_ENST00000354474.6_Missense_Mutation_p.P953S NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 1185 Reticulon. apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 TTCAATCCAGGGATTTTTGCT 0.363000 14 45 0 0 1 0 0 HEYL 26508 broad.mit.edu 37 1 40092578 40092578 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:40092578C>T ENST00000372852.3 - 5 907 c.588G>A c.(586-588)ctG>ctA p.L196L HEYL_ENST00000535435.1_Silent_p.L168L NM_014571.3 NP_055386.1 Q9NQ87 HEYL_HUMAN hes-related family bHLH transcription factor with YRPW motif-like 196 Pro-rich. multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GCACTCTTCCCAGGATGGCGA 0.662000 6 42 0 0 1 0 0 CD2 914 broad.mit.edu 37 1 117311124 117311124 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:117311124G>A ENST00000369478.3 + 5 883 c.775G>A c.(775-777)Gaa>Aaa p.E259K NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 259 blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) AGTAGCTACTGAAGAAAGGGG 0.502000 35 52 0 0 1 0 0 OR6C70 390327 broad.mit.edu 37 12 55863920 55863920 + Translation_Start_Site SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:55863920C>T ENST00000327335.4 - 1 2 c.3G>A c.(1-3)atG>atA p.M1I RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 TATGATTCTTCATTTCTCTGT 0.343000 10 50 0 0 1 0 0 LIPG 9388 broad.mit.edu 37 18 47110128 47110128 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr18:47110128G>A ENST00000261292.4 + 8 1638 c.1360G>A c.(1360-1362)Ggg>Agg p.G454R LIPG_ENST00000427224.2_Missense_Mutation_p.G380R NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 454 PLAT. cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 GGTGAAGTCTGGGGAAACCCA 0.562000 7 42 0 0 1 0 0 PIK3R4 30849 broad.mit.edu 37 3 130464009 130464009 + Missense_Mutation SNP A A C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:130464009A>C ENST00000356763.3 - 2 611 c.54T>G c.(52-54)agT>agG p.S18R NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 18 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 CTGAAAAATAACTCTCTACAG 0.438000 26 48 0 0 1 0 0 MGRN1 23295 broad.mit.edu 37 16 4731686 4731686 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:4731686C>T ENST00000399577.5 + 13 1360 c.1267C>T c.(1267-1269)Ctg>Ttg p.L423L MGRN1_ENST00000262370.7_Silent_p.L423L|MGRN1_ENST00000586183.1_Silent_p.L401L|MGRN1_ENST00000415496.1_Silent_p.L402L|MGRN1_ENST00000588994.1_Silent_p.L401L NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 423 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 CTCGGACGGCCTGTCCCAGGC 0.667000 44 86 0 0 1 0 0 COL6A5 256076 broad.mit.edu 37 3 130095080 130095080 + Splice_Site SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:130095080G>A ENST00000265379.6 + 3 562 c.67_splice c.e3-1 p.G23_splice COL6A5_ENST00000432398.2_Splice_Site_p.G23_splice A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 23 Nonhelical region. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 ATTTTGATAGGGCCAGGCCCT 0.388000 18 70 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653480 159653480 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:159653480G>A ENST00000297267.9 + 11 2136 c.1936G>A c.(1936-1938)Gac>Aac p.D646N FNDC1_ENST00000340366.6_Missense_Mutation_p.D583N NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 646 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) CGACTTGGTGGACTCAGACGA 0.697000 18 71 0 0 1 0 0 TMEM136 219902 broad.mit.edu 37 11 120201160 120201160 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:120201160C>T ENST00000375095.2 + 3 915 c.674C>T c.(673-675)gCt>gTt p.A225V TMEM136_ENST00000314475.2_Missense_Mutation_p.A247V|TMEM136_ENST00000531346.1_3'UTR|TMEM136_ENST00000529187.1_Missense_Mutation_p.A128V NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1 NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1 Q6ZRR5 TM136_HUMAN transmembrane protein 136 225 integral to membrane endometrium(1)|lung(2)|ovary(1) 4 Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.07e-06) AAGTACCATGCTTGGAGAAGC 0.488000 34 38 0 0 1 0 0 ENTPD8 377841 broad.mit.edu 37 9 140331063 140331063 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:140331063G>A ENST00000371506.2 - 6 879 c.696C>T c.(694-696)ctC>ctT p.L232L ENTPD8_ENST00000344119.2_Silent_p.L232L|ENTPD8_ENST00000472938.1_Silent_p.L232L NM_001033113.1 NP_001028285.1 Q5MY95 ENTP8_HUMAN ectonucleoside triphosphate diphosphohydrolase 8 232 integral to membrane|plasma membrane ATP binding biliary_tract(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) CGGAGCCGTAGAGGCGAAAAT 0.632000 7 22 0 0 1 0 0 SHPK 23729 broad.mit.edu 37 17 3513866 3513866 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:3513866C>T ENST00000225519.3 - 7 1527 c.1425G>A c.(1423-1425)caG>caA p.Q475Q NM_013276.2 NP_037408.2 Q9UHJ6 SHPK_HUMAN sedoheptulokinase 475 carbohydrate metabolic process cytoplasm ATP binding|sedoheptulokinase activity breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 COAD - Colon adenocarcinoma(5;0.0828) AAGATTCCTTCTGGTTGAGGT 0.527000 70 135 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121707244 121707244 + Silent SNP G G A rs140505657 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:121707244G>A ENST00000273691.3 - 7 1584 c.1479C>T c.(1477-1479)agC>agT p.S493S ILDR1_ENST00000462014.1_Silent_p.S505S|ILDR1_ENST00000393631.1_Silent_p.S448S|ILDR1_ENST00000344209.5_Silent_p.S537S NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 537 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) CACTATGAGAGCTGTCTTTCT 0.433000 25 76 0 0 1 0 0 ALX1 8092 broad.mit.edu 37 12 85680646 85680646 + Nonsense_Mutation SNP C C T rs150997122 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:85680646C>T ENST00000316824.3 + 3 702 c.547C>T c.(547-549)Cga>Tga p.R183* NM_006982.2 NP_008913.2 Q15699 ALX1_HUMAN ALX homeobox 1 183 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1) 26 GBM - Glioblastoma multiforme(134;0.134) GTTTCAAAATCGAAGGGCCAA 0.333000 14 44 0 0 1 0 0 HIPK2 28996 broad.mit.edu 37 7 139416130 139416130 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:139416130G>A ENST00000406875.3 - 2 798 c.704C>T c.(703-705)tCc>tTc p.S235F HIPK2_ENST00000428878.2_Missense_Mutation_p.S235F|HIPK2_ENST00000342645.6_Missense_Mutation_p.S235F NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 235 Interaction with DAXX.|Protein kinase. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) TCGGGCATAGGATGGGTGGTT 0.547000 62 87 0 0 1 0 0 PATL1 219988 broad.mit.edu 37 11 59422996 59422996 + Splice_Site SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:59422996C>T ENST00000300146.9 - 8 1115 c.1031_splice c.e8+1 p.R344_splice NM_152716.2 NP_689929.2 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 1 (yeast) 344 Region N; interaction with decapping machinery. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 TTTTGTATACCTTAGGTTTTG 0.473000 5 4 0 0 1 0 0 CTSL3P 392360 broad.mit.edu 37 9 90388511 90388511 + RNA SNP C C G rs138191329 byFrequency TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:90388511C>G ENST00000354530.2 + 0 377 NR_027917.1 p.P126L(2) AGTATGTTGCCGACAATGGAG 0.458000 40 127 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131225641 131225641 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:131225641G>A ENST00000337057.3 - 6 1074 c.893C>T c.(892-894)cCt>cTt p.P298L EPB41L2_ENST00000445890.2_Missense_Mutation_p.P298L|EPB41L2_ENST00000527411.1_Missense_Mutation_p.P298L|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000529208.1_Missense_Mutation_p.P298L|EPB41L2_ENST00000392427.3_Missense_Mutation_p.P298L|EPB41L2_ENST00000525193.1_Missense_Mutation_p.P298L|EPB41L2_ENST00000368128.2_Missense_Mutation_p.P298L|EPB41L2_ENST00000528282.1_Missense_Mutation_p.P298L|EPB41L2_ENST00000525271.1_Missense_Mutation_p.P298L|EPB41L2_ENST00000530481.1_Missense_Mutation_p.P298L|EPB41L2_ENST00000527659.1_Missense_Mutation_p.P298L NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 298 FERM. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) AGGATCAGGAGGATAAAACTT 0.333000 20 51 0 0 1 0 0 FOXA2 3170 broad.mit.edu 37 20 22562904 22562904 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr20:22562904C>T ENST00000419308.2 - 2 1160 c.958G>A c.(958-960)Gga>Aga p.G320R FOXA2_ENST00000377115.4_Missense_Mutation_p.G320R|FOXA2_ENST00000319993.4_Missense_Mutation_p.G326R NM_021784.4 NP_068556.2 Q9Y261 FOXA2_HUMAN forkhead box A2 320 cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1) 22 Lung NSC(19;0.188) TTCAGCTCTCCCAGGCCCCCT 0.786000 3 8 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10883162 10883162 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:10883162C>T ENST00000314646.5 + 3 407 c.243C>T c.(241-243)gcC>gcT p.A81A DNM2_ENST00000585892.1_Silent_p.A81A|DNM2_ENST00000408974.4_Silent_p.A81A|DNM2_ENST00000389253.4_Silent_p.A81A|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000355667.6_Silent_p.A81A|DNM2_ENST00000359692.6_Silent_p.A81A P50570 DYN2_HUMAN dynamin 2 81 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) TAGAACATGCCGAGTTTTTGC 0.483000 """F, N, Splice, Mis, O""" ETP ALL 29 116 0 0 1 0 0 DKK1 22943 broad.mit.edu 37 10 54074331 54074331 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr10:54074331C>T ENST00000373970.3 + 1 276 c.137C>T c.(136-138)cCc>cTc p.P46L NM_012242.2 NP_036374.1 O94907 DKK1_HUMAN dickkopf WNT signaling pathway inhibitor 1 46 negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 16 AAGAACCTGCCCCCACCGCTG 0.647000 OREG0020191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 74 0 0 1 0 0 SPPL2C 162540 broad.mit.edu 37 17 43922304 43922304 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:43922304G>A ENST00000329196.5 + 1 49 c.32G>A c.(31-33)gGc>gAc p.G11D MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 11 integral to membrane aspartic-type endopeptidase activity CTCCCCGTGGGCTTCCTCCTC 0.637000 53 78 0 0 1 0 0 PNMT 5409 broad.mit.edu 37 17 37826546 37826546 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:37826546G>A ENST00000269582.2 + 3 1071 c.753G>A c.(751-753)cgG>cgA p.R251R PNMT_ENST00000394246.1_Silent_p.R153R NM_002686.3 NP_002677.1 P11086 PNMT_HUMAN phenylethanolamine N-methyltransferase 251 catecholamine biosynthetic process|hormone biosynthetic process cytosol phenylethanolamine N-methyltransferase activity NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) ACAAGGTCCGGGACCTCCGCA 0.627000 14 22 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207760774 207760774 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:207760774G>A ENST00000367049.4 + 34 5574 c.5574G>A c.(5572-5574)acG>acA p.T1858T CR1_ENST00000400960.2_Silent_p.T1408T|CR1_ENST00000367051.1_Silent_p.T1408T|CR1_ENST00000367053.1_Silent_p.T1408T|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Silent_p.T1408T|RP11-78B10.2_ENST00000596003.1_RNA NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1408 Sushi 29. 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 CCAGTCCTACGATCCCAATTA 0.438000 7 86 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117121854 117121854 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:117121854C>T ENST00000310357.3 - 4 1462 c.1441G>A c.(1441-1443)Gag>Aag p.E481K GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Missense_Mutation_p.E306K NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 481 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CCATTGATCTCCTTCCAGAGC 0.388000 24 115 0 0 1 0 0 CRYBB1 1414 broad.mit.edu 37 22 26997986 26997986 + Splice_Site SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:26997986C>T ENST00000215939.2 - 5 563 c.e5-1 NM_001887.3 NP_001878.1 P53674 CRBB1_HUMAN crystallin, beta B1 visual perception structural constituent of eye lens breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4) 31 CCTGGGCATCCTGGGGAAAGA 0.562000 21 69 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20976407 20976407 + Silent SNP T T A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:20976407T>A ENST00000261383.3 - 53 8798 c.8799A>T c.(8797-8799)gtA>gtT p.V2933V DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2933 Stalk (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) GGAGCCGATCTACCACCAGCT 0.532000 140 328 0 0 1 0 0 TBX4 9496 broad.mit.edu 37 17 59556032 59556032 + Silent SNP C C T rs147048921 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:59556032C>T ENST00000393853.4 + 6 757 c.594C>T c.(592-594)atC>atT p.I198I TBX4_ENST00000240335.1_Silent_p.I198I|TBX4_ENST00000589449.1_3'UTR P57082 TBX4_HUMAN T-box 4 198 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GGCTCCACATCGTTAAGGCTG 0.547000 81 168 0 0 1 0 0 MTMR9 66036 broad.mit.edu 37 8 11174302 11174302 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:11174302C>T ENST00000221086.3 + 8 1707 c.1234C>T c.(1234-1236)Ccc>Tcc p.P412S MTMR9_ENST00000526292.1_Missense_Mutation_p.P327S|AF131216.6_ENST00000498997.2_RNA NM_015458.3 NP_056273.2 Q96QG7 MTMR9_HUMAN myotubularin related protein 9 412 Myotubularin phosphatase. cytoplasm phosphatase activity|protein binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 16 STAD - Stomach adenocarcinoma(15;0.215) COAD - Colon adenocarcinoma(149;0.0678) TCGTCAGTTTCCCTGTTCTTT 0.458000 30 32 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 31918653 31918653 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:31918653G>A ENST00000396184.3 - 5 585 c.381C>T c.(379-381)ttC>ttT p.F127F PDE1C_ENST00000396182.2_Silent_p.F127F|PDE1C_ENST00000396193.1_Silent_p.F187F|PDE1C_ENST00000321453.7_Silent_p.F127F|PDE1C_ENST00000396191.1_Silent_p.F127F NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 127 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) CGATGCTCTTGAACCGGGGCT 0.532000 38 116 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151166543 151166543 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:151166543G>A ENST00000282466.3 - 4 1225 c.1226C>T c.(1225-1227)cCt>cTt p.P409L NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 409 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) TTCAGGCTTAGGAGCCACCTG 0.428000 35 71 0 0 1 0 0 TMEM222 84065 broad.mit.edu 37 1 27661930 27661930 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:27661930C>T ENST00000374076.4 + 6 638 c.600C>T c.(598-600)acC>acT p.T200T NM_032125.2 NP_115501.2 Q9H0R3 TM222_HUMAN transmembrane protein 222 200 integral to membrane protein binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 7 TCATCCTCACCGTCAGCCTGG 0.597000 41 130 0 0 1 0 0 SENP6 26054 broad.mit.edu 37 6 76419319 76419319 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:76419319C>T ENST00000370014.3 + 20 3412 c.2793C>T c.(2791-2793)gtC>gtT p.V931V SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Silent_p.V924V|SENP6_ENST00000447266.2_Silent_p.V931V NM_001100409.1 NP_001093879.1 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 931 Protease. 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) ATGAACTCGTCGACTTCTCAG 0.343000 18 59 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40937303 40937303 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:40937303C>T ENST00000246914.5 + 6 1300 c.1279C>T c.(1279-1281)Ctg>Ttg p.L427L NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 427 Protein kinase. intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CCAGGACCTCCTGGCCCACGC 0.692000 3 22 0 0 1 0 0 ST7 7982 broad.mit.edu 37 7 116859152 116859152 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:116859152C>T ENST00000265437.5 + 14 1634 c.1420C>T c.(1420-1422)Cct>Tct p.P474S ST7_ENST00000393447.4_Missense_Mutation_p.P431S|ST7_ENST00000393446.2_Intron|ST7_ENST00000393449.1_Missense_Mutation_p.P469S|ST7_ENST00000393451.3_Missense_Mutation_p.P451S|ST7_ENST00000432298.1_Missense_Mutation_p.P428S|ST7_ENST00000393443.1_Missense_Mutation_p.P396S|ST7_ENST00000393444.3_Missense_Mutation_p.P408S|ST7_ENST00000422922.1_Missense_Mutation_p.P405S|ST7_ENST00000323984.3_Missense_Mutation_p.P474S NM_021908.2 NP_068708.1 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 474 integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1) 21 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) TCGGATGATCCCTTATCCCTT 0.428000 20 280 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124414273 124414273 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:124414273C>T ENST00000409039.3 + 71 12250 c.12225C>T c.(12223-12225)atC>atT p.I4075I CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_3'UTR NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4075 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ACCCAAGGATCCCGTGGGGCA 0.552000 13 16 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 823199 823199 + Missense_Mutation SNP T T C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:823199T>C ENST00000293892.3 - 10 2068 c.2069A>G c.(2068-2070)aAc>aGc p.N690S MSLNL_ENST00000442466.1_Missense_Mutation_p.N339S Q96KJ4 MSLNL_HUMAN mesothelin-like 339 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 GGTGTCCAGGTTGGTTCTGAG 0.637000 33 84 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103149105 103149105 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:103149105G>A ENST00000295269.4 + 12 2812 c.2355G>A c.(2353-2355)agG>agA p.R785R NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 785 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 GACACGGCAGGGACCATCACA 0.498000 16 31 0 0 1 0 0 CCDC127 133957 broad.mit.edu 37 5 205679 205679 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:205679G>A ENST00000296824.3 - 3 648 c.516C>T c.(514-516)atC>atT p.I172I NM_145265.2 NP_660308.1 Q96BQ5 CC127_HUMAN coiled-coil domain containing 127 172 breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 all cancers(22;0.0236)|Lung(60;0.113) GACTGCAGTAGATATTCTGTC 0.517000 16 79 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12120187 12120187 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:12120187C>T ENST00000379388.2 + 4 491 c.159C>T c.(157-159)atC>atT p.I53I NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 53 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GCAAAAAGATCGTAGCTGAGA 0.378000 79 190 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97127449 97127449 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr10:97127449G>A ENST00000371247.2 - 22 2102 c.1913C>T c.(1912-1914)gCc>gTc p.A638V SORBS1_ENST00000607232.1_Missense_Mutation_p.A405V|SORBS1_ENST00000371241.1_Missense_Mutation_p.A344V|SORBS1_ENST00000371245.3_Missense_Mutation_p.A489V|SORBS1_ENST00000347291.4_Missense_Mutation_p.A450V|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371227.4_Missense_Mutation_p.A592V|SORBS1_ENST00000393949.1_Missense_Mutation_p.A608V|SORBS1_ENST00000371246.2_Missense_Mutation_p.A660V|SORBS1_ENST00000371239.1_Missense_Mutation_p.A415V|SORBS1_ENST00000277982.5_Missense_Mutation_p.A660V|SORBS1_ENST00000361941.3_Missense_Mutation_p.A638V|SORBS1_ENST00000354106.3_Missense_Mutation_p.A608V|SORBS1_ENST00000306402.6_Missense_Mutation_p.A385V|SORBS1_ENST00000371249.2_Missense_Mutation_p.A476V|SORBS1_ENST00000353505.5_Missense_Mutation_p.A489V Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 638 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) AGGGCTGATGGCTGAGCTCTG 0.338000 6 18 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247587978 247587978 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:247587978C>T ENST00000366497.2 + 4 2013 c.1233C>T c.(1231-1233)atC>atT p.I411I NLRP3_ENST00000366496.2_Silent_p.I411I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.I411I|NLRP3_ENST00000336119.3_Silent_p.I411I|NLRP3_ENST00000348069.2_Silent_p.I411I|NLRP3_ENST00000391827.2_Silent_p.I411I NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 411 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TGTGCTTCATCCCCCTGGTCT 0.547000 35 85 0 0 1 0 0 MOSPD3 64598 broad.mit.edu 37 7 100212784 100212784 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:100212784C>T ENST00000393950.2 + 5 968 c.686C>T c.(685-687)aCc>aTc p.T229I MOSPD3_ENST00000424091.2_Missense_Mutation_p.T219I|MOSPD3_ENST00000379527.2_Missense_Mutation_p.T229I|MOSPD3_ENST00000223054.4_Missense_Mutation_p.T229I NM_023948.4 NP_076438.1 O75425 MSPD3_HUMAN motile sperm domain containing 3 229 integral to membrane structural molecule activity breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GGCCTCCTCACCATGGTGTTC 0.622000 73 99 0 0 1 0 0 WNT7B 7477 broad.mit.edu 37 22 46327050 46327050 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:46327050G>A ENST00000339464.4 - 3 872 c.498C>T c.(496-498)ttC>ttT p.F166F WNT7B_ENST00000410089.1_Silent_p.F150F|WNT7B_ENST00000410058.1_Silent_p.F166F|WNT7B_ENST00000409496.3_Silent_p.F170F NM_058238.2 NP_478679.1 P56706 WNT7B_HUMAN wingless-type MMTV integration site family, member 7B 166 activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 19 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247) GAGCGTCCACGAAGCGCCGGG 0.662000 42 105 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84510375 84510375 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chrX:84510375C>T ENST00000360700.4 + 4 1076 c.190C>T c.(190-192)Cat>Tat p.H64Y ZNF711_ENST00000395402.1_Missense_Mutation_p.H42Y|ZNF711_ENST00000276123.3_Missense_Mutation_p.H64Y|ZNF711_ENST00000373165.3_Missense_Mutation_p.H64Y Q9Y462 ZN711_HUMAN zinc finger protein 711 64 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 AACTCTTGATCATGGCCTTGC 0.438000 67 52 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48703949 48703949 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:48703949C>T ENST00000352832.5 + 34 6962 c.6590C>T c.(6589-6591)cCg>cTg p.P2197L CACNA1G_ENST00000358244.5_Missense_Mutation_p.P2118L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P2220L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P2268L|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P2197L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P2313L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P2261L|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P2245L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P2231L|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P2174L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P2141L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P2206L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P2186L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P2234L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P2190L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P2253L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P2224L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P2290L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P2238L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P2208L|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P2179L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P2279L|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P2324L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P2213L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P2152L 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 2324 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) CCTCGGACCCCGCCCAGCCCT 0.687000 OREG0024569 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 29 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152279710 152279710 + Missense_Mutation SNP T T G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:152279710T>G ENST00000368799.1 - 3 7687 c.7652A>C c.(7651-7653)cAg>cCg p.Q2551P FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2551 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) TGATTGTCCCTGGCCCACCTG 0.587000 Ichthyosis 157 504 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196438179 196438179 + Missense_Mutation SNP A A T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:196438179A>T ENST00000367433.5 - 6 505 c.404T>A c.(403-405)aTt>aAt p.I135N KCNT2_ENST00000367431.4_Missense_Mutation_p.I135N|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.I135N Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 135 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TATTCGTAAAATCTGTTCCCA 0.328000 8 31 0 0 1 0 0 TTC9 23508 broad.mit.edu 37 14 71137803 71137803 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:71137803G>A ENST00000256367.2 + 3 943 c.600G>A c.(598-600)gtG>gtA p.V200V NM_015351.1 NP_056166.1 Q92623 TTC9A_HUMAN tetratricopeptide repeat domain 9 200 binding skin(1) 1 all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538) ACACCAACGTGATTCGGTATA 0.498000 17 39 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49224966 49224966 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr20:49224966C>T ENST00000327979.2 - 11 1315 c.904G>A c.(904-906)Gag>Aag p.E302K FAM65C_ENST00000045083.2_Missense_Mutation_p.E302K|FAM65C_ENST00000535356.1_Missense_Mutation_p.E306K Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 302 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GTACCCAACTCCGTGATGTCC 0.667000 18 216 0 0 1 0 0 SYMPK 8189 broad.mit.edu 37 19 46318870 46318870 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:46318870G>A ENST00000245934.7 - 27 4017 c.3773C>T c.(3772-3774)cCc>cTc p.P1258L SYMPK_ENST00000598155.1_5'UTR NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 1258 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) AGCCGGGCTGGGAGTCTTCAT 0.692000 7 20 0 0 1 0 0 CDA 978 broad.mit.edu 37 1 20945011 20945011 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:20945011G>A ENST00000375071.3 + 4 573 c.391G>A c.(391-393)Gag>Aag p.E131K CDA_ENST00000461985.1_3'UTR NM_001785.2 NP_001776.1 P32320 CDD_HUMAN cytidine deaminase 131 cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage cytosol|extracellular region cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 7 Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199) Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441) GACGGTCCAGGAGCTGCTGCC 0.552000 31 57 0 0 1 0 0 TMEM222 84065 broad.mit.edu 37 1 27661929 27661929 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:27661929C>T ENST00000374076.4 + 6 637 c.599C>T c.(598-600)aCc>aTc p.T200I NM_032125.2 NP_115501.2 Q9H0R3 TM222_HUMAN transmembrane protein 222 200 integral to membrane protein binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 7 ATCATCCTCACCGTCAGCCTG 0.602000 43 131 0 0 1 0 0 GALNT9 50614 broad.mit.edu 37 12 132688178 132688178 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:132688178C>T ENST00000328957.8 - 7 1134 c.1135G>A c.(1135-1137)Gag>Aag p.E379K GALNT9_ENST00000397325.2_Missense_Mutation_p.E13K|GALNT9_ENST00000535228.1_Missense_Mutation_p.E130K|GALNT9_ENST00000541995.1_Missense_Mutation_p.E13K NM_001122636.1 NP_001116108.1 Q9HCQ5 GALT9_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) 379 Catalytic subdomain B. protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(1)|large_intestine(2)|lung(5) 9 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05) CTGGTGCGCTCGATGTGGGCC 0.657000 34 117 0 0 1 0 0 KIAA0355 9710 broad.mit.edu 37 19 34791575 34791575 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:34791575C>T ENST00000299505.6 + 2 1070 c.197C>T c.(196-198)gCc>gTc p.A66V NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 66 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) TGCCACCATGCCATGCCCCAC 0.627000 34 87 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67040682 67040682 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:67040682C>T ENST00000315962.4 + 2 685 c.312C>T c.(310-312)atC>atT p.I104I TRIM55_ENST00000353317.5_Silent_p.I104I|TRIM55_ENST00000276573.7_Silent_p.I104I|TRIM55_ENST00000350034.4_Silent_p.I104I NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 104 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) TGGAAAATATCATTGACATCT 0.458000 57 86 0 0 1 0 0 RND1 27289 broad.mit.edu 37 12 49258632 49258632 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:49258632C>T ENST00000309739.5 - 2 272 c.142G>A c.(142-144)Gaa>Aaa p.E48K NM_014470.3 NP_055285.1 Q92730 RND1_HUMAN Rho family GTPase 1 48 actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction adherens junction|cytoskeleton|cytosol GTP binding|GTPase activity|receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1) 10 GTGTAATTTTCGAACACGGTG 0.517000 75 153 0 0 1 0 0 IQGAP3 128239 broad.mit.edu 37 1 156509680 156509680 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:156509680C>T ENST00000361170.2 - 24 2852 c.2842G>A c.(2842-2844)Gag>Aag p.E948K NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 948 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGCCGTTTCTCTTTGCTCAGC 0.493000 15 133 0 0 1 0 0 ZSCAN30 100101467 broad.mit.edu 37 18 32844006 32844006 + Missense_Mutation SNP A A G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr18:32844006A>G ENST00000420878.3 - 3 766 c.311T>C c.(310-312)cTg>cCg p.L104P ZSCAN30_ENST00000589178.1_Missense_Mutation_p.L104P|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.L104P|ZSCAN30_ENST00000601405.1_Intron|ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000383091.2_Missense_Mutation_p.L104P|ZSCAN30_ENST00000592278.1_Missense_Mutation_p.L104P NM_001166012.1 NP_001159484.1 Q86W11 ZSC30_HUMAN zinc finger and SCAN domain containing 30 104 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(5)|lung(3)|urinary_tract(1) 9 CCAAGCTTGCAGCTCCTCAGG 0.567000 4 116 0 0 1 0 0 BPI 671 broad.mit.edu 37 20 36932735 36932735 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr20:36932735C>T ENST00000262865.4 + 1 211 c.122C>T c.(121-123)tCc>tTc p.S41F CTD-2308N23.2_ENST00000437016.1_RNA NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 41 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) GTCAGGATCTCCCAGAAGGGC 0.622000 54 76 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171083457 171083457 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:171083457C>T ENST00000367755.4 + 7 1249 c.1138C>T c.(1138-1140)Ccc>Tcc p.P380S FMO3_ENST00000538429.1_Missense_Mutation_p.P317S|FMO3_ENST00000392085.2_Missense_Mutation_p.P380S|FMO3_ENST00000542847.1_Missense_Mutation_p.P360S NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 380 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGCTGCCATTCCCACAGTTGA 0.443000 21 36 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 95791377 95791377 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr10:95791377G>A ENST00000260766.3 + 2 1208 c.574G>A c.(574-576)Gaa>Aaa p.E192K PLCE1_ENST00000371380.2_Missense_Mutation_p.E192K NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 192 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TTTTCATTATGAAGTTGACAG 0.423000 45 67 0 0 1 0 0 GBA 2629 broad.mit.edu 37 1 155204988 155204988 + Missense_Mutation SNP G G T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:155204988G>T ENST00000428024.2 - 9 1744 c.1242C>A c.(1240-1242)aaC>aaA p.N414K GBA_ENST00000327247.5_Missense_Mutation_p.N501K|GBA_ENST00000368373.3_Missense_Mutation_p.N501K|GBA_ENST00000536770.1_Missense_Mutation_p.N388K|GBA_ENST00000427500.2_Missense_Mutation_p.N452K NM_001171811.1 NP_001165282.1 P04062 GLCM_HUMAN glucosidase, beta, acid 501 V -> L (in GD; mild). carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) 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) Alglucerase(DB00088)|Imiglucerase(DB00053) GCCCTCACCGGTTTAGCACGA 0.607000 Gaucher disease type I 15 144 1.67942e-08 1.6955e-08 1 1 0 EPHB3 2049 broad.mit.edu 37 3 184295192 184295192 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:184295192C>T ENST00000330394.2 + 6 1868 c.1416C>T c.(1414-1416)tcC>tcT p.S472S EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 472 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) TCACCCTATCCTGGGCACCCC 0.632000 45 98 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90347591 90347591 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr15:90347591C>T ENST00000300060.6 - 6 1385 c.1072G>A c.(1072-1074)Gga>Aga p.G358R NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 358 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 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)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GTCACCAGTCCCCAGTTCTCC 0.617000 34 83 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 31010032 31010032 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:31010032C>T ENST00000295055.8 - 2 336 c.160G>A c.(160-162)Gaa>Aaa p.E54K CAPN13_ENST00000534090.2_Missense_Mutation_p.E54K|CAPN13_ENST00000465960.2_5'UTR NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 54 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) AGGCGTTTTTCCTGGAGCAGC 0.577000 3 14 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34148347 34148347 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chrX:34148347C>T ENST00000346193.3 - 1 2100 c.2049G>A c.(2047-2049)tcG>tcA p.S683S NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 683 p.S683S(1) 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 TATAAGAATTCGATGGCGTGT 0.443000 21 37 0 0 1 0 0 CRYBB2 1415 broad.mit.edu 37 22 25625439 25625439 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:25625439C>T ENST00000398215.2 + 5 514 c.343C>T c.(343-345)Ccc>Tcc p.P115S NM_000496.2 NP_000487.1 P43320 CRBB2_HUMAN crystallin, beta B2 115 Beta/gamma crystallin 'Greek key' 3. response to stimulus|visual perception structural constituent of eye lens endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 10 CTATGAAAACCCCAACTTCAC 0.557000 12 32 0 0 1 0 0 VNN3 55350 broad.mit.edu 37 6 133048119 133048119 + Missense_Mutation SNP A A T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:133048119A>T ENST00000367927.5 - 4 642 c.570T>A c.(568-570)gaT>gaA p.D190E VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000519686.2_Intron|VNN3_ENST00000414302.2_Missense_Mutation_p.I126N|VNN3_ENST00000509351.1_Intron|VNN3_ENST00000423615.2_Intron|VNN3_ENST00000417437.2_Intron|VNN3_ENST00000427187.2_Intron|VNN3_ENST00000450865.2_Intron|VNN3_ENST00000207771.3_Missense_Mutation_p.D190E|VNN3_ENST00000392393.3_Intron|VNN3_ENST00000275223.3_Intron vanin 3 cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168) CCTTGGGGAAATCAAACTGAA 0.353000 6 42 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108353762 108353762 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:108353762C>T ENST00000361582.3 + 10 1091 c.861C>T c.(859-861)ttC>ttT p.F287F DZIP3_ENST00000463306.1_Silent_p.F287F NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 287 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 GTGTTTATTTCCATAAAATTT 0.294000 39 89 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142650984 142650984 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:142650984G>A ENST00000355265.2 - 9 1458 c.984C>T c.(982-984)tcC>tcT p.S328S KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 328 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) AAGGGCTCAGGGACATCGGTG 0.532000 91 276 0 0 1 0 0 ADH1C 126 broad.mit.edu 37 4 100263983 100263983 + RNA SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:100263983G>A ENST00000515683.1 - 0 1148 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) GACTTCAAACGAAAAATCCAC 0.463000 88 299 0 0 1 0 0 FAM110C 642273 broad.mit.edu 37 2 45651 45651 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:45651G>A ENST00000327669.4 - 1 734 c.735C>T c.(733-735)acC>acT p.T245T NM_001077710.2 NP_001071178.2 Q1W6H9 F110C_HUMAN family with sequence similarity 110, member C 245 microtubule|microtubule organizing center|spindle pole central_nervous_system(1)|kidney(1)|lung(2) 4 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00221) all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232) GCACCTTGAGGGTCACACAGT 0.687000 17 32 0 0 1 0 0 BRD1 23774 broad.mit.edu 37 22 50216833 50216833 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:50216833G>A ENST00000216267.8 - 1 1619 c.1133C>T c.(1132-1134)tCc>tTc p.S378F BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000457780.2_Missense_Mutation_p.S378F|BRD1_ENST00000404760.1_Missense_Mutation_p.S378F|BRD1_ENST00000542442.1_Missense_Mutation_p.S17F|BRD1_ENST00000404034.1_Missense_Mutation_p.S378F NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 378 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) CTTTCTGACGGAGAAGGTGGT 0.542000 33 301 0 0 1 0 0 CMTM8 152189 broad.mit.edu 37 3 32411396 32411396 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:32411396C>T ENST00000307526.3 + 4 753 c.459C>T c.(457-459)acC>acT p.T153T CMTM8_ENST00000458535.2_Silent_p.T95T NM_178868.3 NP_849199.2 Q8IZV2 CKLF8_HUMAN CKLF-like MARVEL transmembrane domain containing 8 153 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|lung(1) 4 TCCTGGTCACCATCTGCTACG 0.363000 43 50 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579626 82579626 + Missense_Mutation SNP C C A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:82579626C>A ENST00000423517.2 - 6 10615 c.10278G>T c.(10276-10278)atG>atT p.M3426I PCLO_ENST00000437081.1_Missense_Mutation_p.M146I|PCLO_ENST00000333891.8_Missense_Mutation_p.M3426I NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3357 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 TATTTTCTCCCATGTCATCAT 0.413000 27 139 7.41945e-09 7.49847e-09 1 1 0 ZNF525 170958 broad.mit.edu 37 19 53884968 53884968 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:53884968G>A ENST00000467003.1 + 4 1229 c.1028G>A c.(1027-1029)gGa>gAa p.G343E ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000355326.3_Missense_Mutation_p.G97E|ZNF525_ENST00000474037.1_Missense_Mutation_p.G379E|ZNF525_ENST00000593918.1_Intron zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 ACTCATACTGGAGAGAAACCA 0.388000 28 64 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103354435 103354435 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:103354435G>A ENST00000358392.2 - 60 4858 c.4541C>T c.(4540-4542)cCt>cTt p.P1514L COL11A1_ENST00000353414.4_Missense_Mutation_p.P1463L|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1502L|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1386L NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1502 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) TAAACCTGGAGGACCAGGTGG 0.393000 30 83 0 0 1 0 0 USF2 7392 broad.mit.edu 37 19 35769649 35769649 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:35769649C>T ENST00000222305.3 + 8 813 c.776C>T c.(775-777)tCg>tTg p.S259L USF2_ENST00000595068.1_Missense_Mutation_p.S259L|USF2_ENST00000600341.1_3'UTR|USF2_ENST00000594064.1_Missense_Mutation_p.S257L|USF2_ENST00000379134.3_Missense_Mutation_p.S128L|USF2_ENST00000343550.5_Missense_Mutation_p.S192L NM_003367.2 NP_003358.1 Q15853 USF2_HUMAN upstream transcription factor 2, c-fos interacting 259 Helix-loop-helix motif. lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose nucleus bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1) 13 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) GTCCAGCTTTCGAAAATCATT 0.602000 57 261 0 0 1 0 0 AQP9 366 broad.mit.edu 37 15 58465385 58465385 + Silent SNP C C G rs148872883 byFrequency TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr15:58465385C>G ENST00000219919.4 + 3 727 c.357C>G c.(355-357)acC>acG p.T119T AQP9_ENST00000536493.1_Silent_p.T119T|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Silent_p.T54T NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 119 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity p.T119T(1) endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) GGGCTGCAACCGTCTTTGGCA 0.463000 71 181 0 0 1 0 0 OSBP2 23762 broad.mit.edu 37 22 31283578 31283578 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:31283578G>A ENST00000332585.6 + 4 1377 c.1273G>A c.(1273-1275)Gcc>Acc p.A425T OSBP2_ENST00000437268.2_Missense_Mutation_p.A167T|OSBP2_ENST00000407373.1_Missense_Mutation_p.A252T|OSBP2_ENST00000535268.1_5'UTR|OSBP2_ENST00000403222.3_Missense_Mutation_p.A260T|OSBP2_ENST00000382310.3_Missense_Mutation_p.A425T|OSBP2_ENST00000401475.1_Missense_Mutation_p.A59T|OSBP2_ENST00000446658.2_Missense_Mutation_p.A425T NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 425 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 TGGCCGGCCGGCCAACCCCTC 0.637000 7 24 0 0 1 0 0 CRIM1 51232 broad.mit.edu 37 2 36668569 36668569 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:36668569G>A ENST00000280527.2 + 3 1041 c.674G>A c.(673-675)gGa>gAa p.G225E NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 225 nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) TGCCAGCCGGGAAACCTGAAC 0.582000 47 160 0 0 1 0 0 UGGT2 55757 broad.mit.edu 37 13 96599411 96599411 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr13:96599411G>A ENST00000376747.3 - 15 1627 c.1557C>T c.(1555-1557)ttC>ttT p.F519F NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 519 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TATTAAGAATGAACACAAAAC 0.333000 50 77 0 0 1 0 0 IGHV1OR15-9 390531 broad.mit.edu 37 15 20170333 20170333 + RNA SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr15:20170333G>A ENST00000338912.5 - 0 21 ACCAAAAACAGGATCCTCCAA 0.532000 68 157 0 0 1 0 0 PSMB11 122706 broad.mit.edu 37 14 23511481 23511481 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:23511481G>A ENST00000408907.2 + 1 106 c.47G>A c.(46-48)gGa>gAa p.G16E NM_001099780.1 NP_001093250.1 A5LHX3 PSB11_HUMAN proteasome (prosome, macropain) subunit, beta type, 11 16 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|kidney(2)|lung(4) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00643) GACACCCAGGGACCATCACCT 0.627000 93 104 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711179 140711179 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:140711179G>A ENST00000517417.1 + 1 928 c.928G>A c.(928-930)Gaa>Aaa p.E310K PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E310K NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTAGATTTCGAAGAATACAA 0.373000 12 51 0 0 1 0 0 MS4A10 341116 broad.mit.edu 37 11 60561522 60561522 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:60561522C>T ENST00000308287.1 + 5 534 c.438C>T c.(436-438)ctC>ctT p.L146L NM_206893.3 NP_996776.2 Q96PG2 M4A10_HUMAN membrane-spanning 4-domains, subfamily A, member 10 146 integral to membrane receptor activity endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2) 21 CCAAGGATCTCTTTCTGGAGA 0.512000 55 72 0 0 1 0 0 GCSAML 148823 broad.mit.edu 37 1 247729254 247729254 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:247729254C>T ENST00000366491.2 + 6 598 c.101C>T c.(100-102)tCt>tTt p.S34F GCSAML_ENST00000463359.1_Missense_Mutation_p.S22F|GCSAML_ENST00000366489.1_Missense_Mutation_p.S34F|GCSAML_ENST00000366488.4_Missense_Mutation_p.S54F|GCSAML_ENST00000527541.1_Missense_Mutation_p.S22F|GCSAML_ENST00000527084.1_Missense_Mutation_p.S22F|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000536561.1_Missense_Mutation_p.S34F germinal center-associated, signaling and motility-like TCATCCACTTCTAATCAGGTA 0.308000 21 25 0 0 1 0 0 PDE9A 5152 broad.mit.edu 37 21 44152052 44152052 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr21:44152052C>T ENST00000291539.6 + 5 495 c.435C>T c.(433-435)atC>atT p.I145I PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000328862.6_Silent_p.I119I|PDE9A_ENST00000398225.3_Silent_p.I104I|PDE9A_ENST00000398232.3_Silent_p.I78I|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000335512.4_Intron|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000470987.1_Intron|PDE9A_ENST00000398227.3_Intron NM_002606.2 NP_002597.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 145 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 GCCAGCGCATCCCTCCAGGTA 0.632000 16 22 0 0 1 0 0 ZNF230 7773 broad.mit.edu 37 19 44515346 44515346 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:44515346C>T ENST00000429154.2 + 5 1383 c.1155C>T c.(1153-1155)gtC>gtT p.V385V NM_006300.3 NP_006291.2 Q9UIE0 ZN230_HUMAN zinc finger protein 230 385 QRV -> PEG (in Ref. 1; AAB62180). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) ACCAGAGGGTCCATACTGGAG 0.443000 54 99 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12973167 12973167 + Splice_Site SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:12973167C>T ENST00000276297.4 - 6 1758 c.e6-1 DLC1_ENST00000512044.2_Splice_Site|DLC1_ENST00000358919.2_Splice_Site|DLC1_ENST00000520226.1_Splice_Site NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GCTTCAATTTCTAGAACAGAA 0.403000 26 28 0 0 1 0 0 CDKL2 8999 broad.mit.edu 37 4 76523295 76523295 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:76523295G>A ENST00000429927.2 - 8 1689 c.986C>T c.(985-987)tCc>tTc p.S329F CDKL2_ENST00000307465.4_Missense_Mutation_p.S329F NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 329 sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TTCAACTAAGGAATCATCTTT 0.259000 14 81 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122001020 122001020 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:122001020G>A ENST00000498619.1 + 6 2137 c.1699G>A c.(1699-1701)Ggg>Agg p.G567R CASR_ENST00000490131.1_Missense_Mutation_p.G557R|CASR_ENST00000296154.5_Missense_Mutation_p.G557R NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 557 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GATCATTGAGGGGGAGCCCAC 0.577000 68 188 0 0 1 0 0 GABPB2 126626 broad.mit.edu 37 1 151070470 151070470 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:151070470C>T ENST00000368918.3 + 5 945 c.614C>T c.(613-615)aCa>aTa p.T205I GABPB2_ENST00000368917.1_Missense_Mutation_p.T205I|GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368916.1_Missense_Mutation_p.T205I NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 205 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) AACACCAAAACAACCTCAGGT 0.408000 7 94 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29994573 29994573 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:29994573C>T ENST00000308893.4 + 12 2223 c.1180C>T c.(1180-1182)Cct>Tct p.P394S TAOK2_ENST00000416441.2_Missense_Mutation_p.P221S|TAOK2_ENST00000543033.1_Missense_Mutation_p.P394S|TAOK2_ENST00000279394.3_Missense_Mutation_p.P394S NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 394 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 ggaagaAGGCCCTGAAGCCCG 0.617000 28 54 0 0 1 0 0 LVRN 206338 broad.mit.edu 37 5 115361802 115361802 + Missense_Mutation SNP G G T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:115361802G>T ENST00000357872.4 + 20 3084 c.2960G>T c.(2959-2961)aGg>aTg p.R987M CTD-2287O16.3_ENST00000600981.3_Intron NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 987 proteolysis integral to membrane metallopeptidase activity|zinc ion binding GCGTGGCTAAGGAGAAACACA 0.398000 8 57 0.000274275 0.000275436 1 1 0 NCAM1 4684 broad.mit.edu 37 11 113103967 113103967 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:113103967C>T ENST00000316851.7 + 12 1591 c.1591C>T c.(1591-1593)Ctc>Ttc p.L531F NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.L540F|NCAM1_ENST00000533760.1_Missense_Mutation_p.L413F NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 541 Fibronectin type-III 1. 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) GGTGCCCATCCTCAAATACAA 0.532000 11 15 0 0 1 0 0 PLTP 5360 broad.mit.edu 37 20 44538245 44538245 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr20:44538245G>A ENST00000477313.1 - 4 989 c.395C>T c.(394-396)tCc>tTc p.S132F PLTP_ENST00000354050.4_Intron|PLTP_ENST00000372420.1_Missense_Mutation_p.S44F|PLTP_ENST00000372431.3_Missense_Mutation_p.S132F|PLTP_ENST00000542937.1_Missense_Mutation_p.S152F|PLTP_ENST00000420868.2_Intron P55058 PLTP_HUMAN phospholipid transfer protein 132 cellular lipid metabolic process|lipid transport extracellular region lipid binding endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1) 21 Myeloproliferative disorder(115;0.0122) GGGATCCCGGGAGAGCTCCAG 0.592000 64 255 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951779 119951779 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:119951779C>T ENST00000307142.4 + 4 2045 c.1849C>T c.(1849-1851)Cct>Tct p.P617S SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P617S|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P617S NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 617 Pro-rich. 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 TGCTGACTTTCCTGCACCTCC 0.592000 50 134 0 0 1 0 0 OR7A5 26659 broad.mit.edu 37 19 14938302 14938302 + Missense_Mutation SNP A A T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:14938302A>T ENST00000322301.3 - 2 839 c.752T>A c.(751-753)tTt>tAt p.F251Y OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.F251Y Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 TGCACCATAAAATAAGGAGAC 0.473000 17 90 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 132051905 132051905 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:132051905C>T ENST00000286355.5 - 1 2767 c.675G>A c.(673-675)gtG>gtA p.V225V ADCY8_ENST00000377928.3_Silent_p.V225V NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 225 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GGGCGCAGATCACTACCTCAA 0.622000 HNSCC(32;0.087) 27 38 0 0 1 0 0 TRH 7200 broad.mit.edu 37 3 129694684 129694684 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:129694684G>A ENST00000302649.3 + 2 552 c.25G>A c.(25-27)Gct>Act p.A9T TRH_ENST00000507066.1_Missense_Mutation_p.A9T NM_007117.3 NP_009048.1 P20396 TRH_HUMAN thyrotropin-releasing hormone 9 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 14 GTTGCTGCTCGCTCTGGCTTT 0.697000 20 27 0 0 1 0 0 BTNL3 10917 broad.mit.edu 37 5 180424481 180424481 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:180424481G>A ENST00000342868.6 + 3 850 c.666G>A c.(664-666)ttG>ttA p.L222L NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 222 lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) CCAAGGTATTGATAGGAGGTG 0.493000 10 20 0 0 1 0 0 C17orf98 388381 broad.mit.edu 37 17 36997544 36997544 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:36997544C>T ENST00000398575.4 - 1 164 c.99G>A c.(97-99)agG>agA p.R33R NM_001080465.2 NP_001073934.1 A8MV24 CQ098_HUMAN chromosome 17 open reading frame 98 33 endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3) 14 ACAGCTTGGGCCTAGAGCGCC 0.627000 35 100 0 0 1 0 0 OR13C4 138804 broad.mit.edu 37 9 107289308 107289308 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:107289308G>A ENST00000277216.3 - 1 182 c.183C>T c.(181-183)ttC>ttT p.F61F NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 TGCCCAGGAAGAAGTACATGG 0.418000 41 117 0 0 1 0 0 TNNI3 7137 broad.mit.edu 37 19 55663286 55663286 + Splice_Site SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:55663286C>T ENST00000344887.5 - 8 692 c.e8-1 TNNI3_ENST00000588882.1_Splice_Site NM_000363.4 NP_000354.4 P19429 TNNI3_HUMAN troponin I type 3 (cardiac) cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) CCCGGTTTTCCTGGAGGATGG 0.562000 4 70 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139263157 139263157 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:139263157C>T ENST00000395297.1 - 6 639 c.469G>A c.(469-471)Gac>Aac p.D157N NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 157 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) TGGAAATAGTCGAACATGACC 0.592000 HNSCC(54;0.14) 72 182 0 0 1 0 0 ZNF165 7718 broad.mit.edu 37 6 28053558 28053558 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:28053558C>T ENST00000377325.1 + 2 856 c.300C>T c.(298-300)atC>atT p.I100I NM_003447.3 NP_003438.1 P49910 ZN165_HUMAN zinc finger protein 165 100 SCAN box. viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCCTGACCATCCTGCCAGGAG 0.537000 22 77 0 0 1 0 0 HEXB 3074 broad.mit.edu 37 5 74016474 74016474 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:74016474G>A ENST00000511181.1 + 13 1752 c.840G>A c.(838-840)cgG>cgA p.R280R HEXB_ENST00000261416.7_Silent_p.R505R|HEXB_ENST00000509579.1_5'UTR|HEXB_ENST00000513539.1_3'UTR P07686 HEXB_HUMAN hexosaminidase B (beta polypeptide) 505 cell death lysosome cation binding|protein heterodimerization activity|protein homodimerization activity endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.72e-57) TTAGGCCTCGGGCAAGTGCTG 0.458000 11 57 0 0 1 0 0 CHCHD3 54927 broad.mit.edu 37 7 132481316 132481316 + Missense_Mutation SNP A A T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:132481316A>T ENST00000262570.5 - 7 691 c.547T>A c.(547-549)Tgt>Agt p.C183S CHCHD3_ENST00000476546.1_5'UTR|CHCHD3_ENST00000448878.1_Missense_Mutation_p.C188S NM_017812.2 NP_060282.1 Q9NX63 CHCH3_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 3 183 CHCH. inner mitochondrial membrane organization|mitochondrial fusion mitochondrial inner membrane protein complex scaffold endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 7 AGATCAGCACAGACTGGATGA 0.458000 21 84 0 0 1 0 0 BMPR2 659 broad.mit.edu 37 2 203407041 203407041 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:203407041C>T ENST00000374580.4 + 10 1823 c.1284C>T c.(1282-1284)tcC>tcT p.S428S BMPR2_ENST00000374574.2_Silent_p.S428S NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 428 Protein kinase. anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 CAGGGGAATCCGTACCAGAGT 0.393000 31 61 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106824097 106824097 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:106824097C>T ENST00000228347.4 + 14 1532 c.1310C>T c.(1309-1311)aCc>aTc p.T437I POLR3B_ENST00000539066.1_Missense_Mutation_p.T379I NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 437 innate immune response|positive regulation of 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 nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 CAGGGTGTAACCCAAGTGCTG 0.438000 87 177 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41181595 41181595 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:41181595C>T ENST00000263413.3 - 7 1057 c.793G>A c.(793-795)Gaa>Aaa p.E265K C6_ENST00000337836.5_Missense_Mutation_p.E265K|C6_ENST00000475349.1_5'UTR NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 265 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.E265*(1) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGTTGATTTTCATTGTGTCCA 0.343000 16 55 0 0 1 0 0 PRRX1 5396 broad.mit.edu 37 1 170695443 170695443 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:170695443C>T ENST00000239461.6 + 3 813 c.500C>T c.(499-501)tCc>tTc p.S167F PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000367760.3_Missense_Mutation_p.S167F|PRRX1_ENST00000497230.2_Missense_Mutation_p.S167F NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 167 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTCCTCAAATCCTACTCAGGA 0.552000 15 77 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 117075198 117075198 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr10:117075198C>T ENST00000355044.3 + 18 3115 c.2989C>T c.(2989-2991)Ctt>Ttt p.L997F ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Missense_Mutation_p.L94F NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 997 PSI 5. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TGACACCAATCTTTGCCCCAA 0.408000 54 76 0 0 1 0 0 EXOC4 60412 broad.mit.edu 37 7 133041176 133041176 + Silent SNP T T C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:133041176T>C ENST00000253861.4 + 6 885 c.856T>C c.(856-858)Ttg>Ctg p.L286L EXOC4_ENST00000393161.2_Silent_p.L286L|EXOC4_ENST00000539845.1_Silent_p.L185L NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 286 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) CATTAAGGGCTTGGCGAAACT 0.448000 28 145 0 0 1 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49967936 49967936 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:49967936C>T ENST00000293350.4 + 12 1648 c.1485C>T c.(1483-1485)tcC>tcT p.S495S ALDH16A1_ENST00000540132.1_Silent_p.S332S|ALDH16A1_ENST00000433981.2_Silent_p.S330S|ALDH16A1_ENST00000455361.2_Silent_p.S444S|CTD-3148I10.9_ENST00000599536.1_3'UTR NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 495 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) CCCGGCTGTCCTGCCTCTCCA 0.642000 117 239 0 0 1 0 0 TMIGD1 388364 broad.mit.edu 37 17 28652084 28652084 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:28652084G>A ENST00000328886.4 - 4 462 c.390C>T c.(388-390)ttC>ttT p.F130F TMIGD1_ENST00000538566.2_Silent_p.F130F NM_206832.1 NP_996663.1 Q6UXZ0 TMIG1_HUMAN transmembrane and immunoglobulin domain containing 1 130 Ig-like C2-type 2. integral to membrane breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 12 CAACTGTTTGGAAGTCGTTTC 0.418000 21 148 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104123926 104123926 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:104123926C>T ENST00000388887.2 + 49 5319 c.5115C>T c.(5113-5115)atC>atT p.I1705I NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1705 FAS1 5. 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 AGGCTAAGATCATATCCAGTG 0.343000 43 169 0 0 1 0 0 NET1 10276 broad.mit.edu 37 10 5498608 5498608 + Missense_Mutation SNP T T A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr10:5498608T>A ENST00000355029.4 + 12 1584 c.1442T>A c.(1441-1443)cTg>cAg p.L481Q NET1_ENST00000380359.3_Missense_Mutation_p.L427Q|NET1_ENST00000542715.1_Missense_Mutation_p.L300Q NM_001047160.1 NP_001040625.1 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming 1 481 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1) 23 TCTCACACTCTGCAAGCCAAT 0.473000 75 112 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21235463 21235463 + Missense_Mutation SNP A A T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:21235463A>T ENST00000233242.1 - 26 4404 c.4277T>A c.(4276-4278)cTa>cAa p.L1426Q NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1426 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) TTTGTGGCGTAGAGACCCATC 0.338000 21 96 0 0 1 0 0 VNN2 8875 broad.mit.edu 37 6 133070914 133070914 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:133070914G>A ENST00000326499.6 - 6 1415 c.1291C>T c.(1291-1293)Ctc>Ttc p.L431F VNN2_ENST00000525289.1_Missense_Mutation_p.L210F|VNN2_ENST00000525270.1_Missense_Mutation_p.L378F NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 431 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) GTGCCACTGAGGGAGAACATT 0.403000 12 52 0 0 1 0 0 TMCC1 23023 broad.mit.edu 37 3 129370447 129370447 + Silent SNP G G C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:129370447G>C ENST00000393238.3 - 6 2179 c.1839C>G c.(1837-1839)ccC>ccG p.P613P TMCC1_ENST00000329333.5_Silent_p.P434P|TMCC1_ENST00000432054.2_Silent_p.P289P|TMCC1_ENST00000426664.2_Silent_p.P499P NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 613 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 TCTTCATGAGGGGGACCACAC 0.517000 5 203 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33905547 33905547 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr15:33905547C>T ENST00000389232.4 + 19 2398 c.2328C>T c.(2326-2328)ttC>ttT p.F776F RYR3_ENST00000415757.3_Silent_p.F776F NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 776 B30.2/SPRY 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) GGCTCTTCTTCCCTGTGATGA 0.557000 9 53 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 61 93 0 0 1 0 0 IGHA1 3493 broad.mit.edu 37 14 106174431 106174431 + RNA SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:106174431G>A ENST00000390547.2 - 0 357 CAGCATgagggagatggggta 0.612000 5 20 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156741465 156741465 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:156741465G>A ENST00000347377.6 + 12 1655 c.1224G>A c.(1222-1224)atG>atA p.M408I CYFIP2_ENST00000521420.1_Missense_Mutation_p.M382I|CYFIP2_ENST00000435847.2_Missense_Mutation_p.M82I|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.M408I|CYFIP2_ENST00000377576.3_Missense_Mutation_p.M408I|CYFIP2_ENST00000541131.1_Missense_Mutation_p.M333I|CYFIP2_ENST00000522463.1_Missense_Mutation_p.M212I NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 408 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCCACGTCATGGAGGTGGTAG 0.562000 10 60 0 0 1 0 0 MME 4311 broad.mit.edu 37 3 154889936 154889936 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:154889936G>A ENST00000460393.1 + 21 2131 c.2011G>A c.(2011-2013)Gaa>Aaa p.E671K MME-AS1_ENST00000484721.1_RNA|MME_ENST00000493237.1_Missense_Mutation_p.E671K|MME_ENST00000360490.2_Missense_Mutation_p.E671K|MME_ENST00000492661.1_Missense_Mutation_p.E671K|MME_ENST00000462745.1_Missense_Mutation_p.E671K NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 671 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) AAAGAATGGCGAAGAAAAATT 0.284000 27 62 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10403317 10403317 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:10403317C>T ENST00000377086.1 + 34 3862 c.3660C>T c.(3658-3660)ttC>ttT p.F1220F KIF1B_ENST00000263934.6_Silent_p.F1174F|KIF1B_ENST00000377081.1_Silent_p.F1220F O60333 KIF1B_HUMAN kinesin family member 1B 1220 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GCCGATTCTTCCCTCCACCCA 0.448000 6 70 0 0 1 0 0 IFT81 28981 broad.mit.edu 37 12 110641706 110641706 + Missense_Mutation SNP A A T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:110641706A>T ENST00000242591.5 + 15 2101 c.1595A>T c.(1594-1596)tAt>tTt p.Y532F IFT81_ENST00000552912.1_Missense_Mutation_p.Y532F NM_014055.3 NP_054774.2 Q8WYA0 IFT81_HUMAN intraflagellar transport 81 homolog (Chlamydomonas) 532 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1) 10 aaatcccagtatgatagctgt 0.378000 22 51 0 0 1 0 0 DDX23 9416 broad.mit.edu 37 12 49229976 49229976 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:49229976G>A ENST00000308025.3 - 11 1389 c.1310C>T c.(1309-1311)aCt>aTt p.T437I NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 437 Helicase ATP-binding. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 GCCACTGCCAGTCTCAGCCAC 0.522000 77 175 0 0 1 0 0 ZNF384 171017 broad.mit.edu 37 12 6782468 6782468 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:6782468G>A ENST00000396795.1 - 6 1322 c.825C>T c.(823-825)atC>atT p.I275I ZNF384_ENST00000396799.2_Silent_p.I275I|ZNF384_ENST00000361959.3_Silent_p.I275I|ZNF384_ENST00000355772.4_Silent_p.I220I|ZNF384_ENST00000319770.3_Silent_p.I259I|ZNF384_ENST00000396801.3_Silent_p.I275I Q8TF68 ZN384_HUMAN zinc finger protein 384 275 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 18 AGTGTATACGGATGTGCTGGG 0.557000 T """EWSR1, TAF15 """ ALL 24 44 0 0 1 0 0 TLR2 7097 broad.mit.edu 37 4 154626166 154626166 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:154626166C>T ENST00000260010.6 + 1 3515 c.2107C>T c.(2107-2109)Ctt>Ttt p.L703F NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 703 TIR. cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) TGTCTTTGTGCTTTCTGAAAA 0.408000 71 115 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120884255 120884255 + Splice_Site SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:120884255G>A ENST00000310396.5 + 18 2640 c.e18-1 CPED1_ENST00000423795.1_Splice_Site|CPED1_ENST00000450913.2_Splice_Site NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 ATCTATTCCAGGCCAGTGGAT 0.433000 42 140 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52540858 52540858 + Missense_Mutation SNP A A T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:52540858A>T ENST00000321725.6 + 18 2057 c.1981A>T c.(1981-1983)Att>Ttt p.I661F NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 661 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) GCAGCACAAGATTGTGGCGGT 0.642000 34 43 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7302200 7302200 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:7302200C>T ENST00000537408.1 + 13 2730 c.2192C>T c.(2191-2193)cCc>cTc p.P731L CLSTN3_ENST00000266546.6_Missense_Mutation_p.P719L Q9BQT9 CSTN3_HUMAN calsyntenin 3 719 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 GACCTGGATCCCGAGCGGGAA 0.577000 28 61 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140168101 140168101 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:140168101C>T ENST00000504120.2 + 1 2226 c.2226C>T c.(2224-2226)tcC>tcT p.S742S PCDHA1_ENST00000378133.3_Silent_p.S742S|PCDHA1_ENST00000394633.3_Intron NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTGTGCTCCAGCGCGTTGG 0.672000 13 62 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140967099 140967099 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chrX:140967099G>A ENST00000298296.1 + 3 397 c.397G>A c.(397-399)Gag>Aag p.E133K NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 133 NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) GCCACTCAACGAGAAGAGAAC 0.542000 4 4 0 0 1 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450931 105450931 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chrX:105450931G>A ENST00000337685.2 + 5 2291 c.1506G>A c.(1504-1506)agG>agA p.R502R MUM1L1_ENST00000372552.1_Silent_p.R502R|MUM1L1_ENST00000357175.2_Silent_p.R502R NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 502 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 ACCCAGTTAGGAAAGAAACAA 0.403000 17 17 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967294 41967294 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:41967294C>T ENST00000298919.7 + 10 2321 c.1933C>T c.(1933-1935)Ccc>Tcc p.P645S PDZRN4_ENST00000539469.2_Missense_Mutation_p.P647S|PDZRN4_ENST00000402685.2_Missense_Mutation_p.P905S Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 905 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) CACAAAGAGACCCGTGCGAGA 0.512000 24 193 0 0 1 0 0 ZFX 7543 broad.mit.edu 37 X 24229062 24229062 + Nonsense_Mutation SNP A A T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chrX:24229062A>T ENST00000379177.1 + 11 2414 c.1987A>T c.(1987-1989)Aag>Tag p.K663* ZFX_ENST00000540034.1_Nonsense_Mutation_p.K702*|ZFX_ENST00000539115.1_Nonsense_Mutation_p.K434*|ZFX_ENST00000379188.3_Nonsense_Mutation_p.K663*|ZFX_ENST00000304543.5_Nonsense_Mutation_p.K663*|ZFX_ENST00000338565.3_Nonsense_Mutation_p.K613* NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 663 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 CTACCCCCATAAGTGTGACAT 0.438000 34 47 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43815813 43815813 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr15:43815813G>A ENST00000382031.1 + 5 2887 c.2856G>A c.(2854-2856)gaG>gaA p.E952E MAP1A_ENST00000300231.5_Silent_p.E714E|MAP1A_ENST00000399453.1_Silent_p.E714E P78559 MAP1A_HUMAN microtubule-associated protein 1A 714 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) CTGAGAAGGAGACCTCGTTAT 0.547000 13 60 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57480770 57480770 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:57480770C>T ENST00000371236.2 - 12 1493 c.1230G>A c.(1228-1230)atG>atA p.M410I DAB1_ENST00000439789.2_Missense_Mutation_p.M324I|DAB1_ENST00000371231.1_Missense_Mutation_p.M443I|DAB1_ENST00000420954.2_Missense_Mutation_p.M408I|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Missense_Mutation_p.M392I|DAB1_ENST00000371234.4_Missense_Mutation_p.M410I O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 443 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 TTTCTTTGCCCATTTTCTGCC 0.612000 34 71 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179569015 179569015 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:179569015G>A ENST00000589042.1 - 106 30306 c.30082C>T c.(30082-30084)Ctt>Ttt p.L10028F TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L8784F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L9711F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9711 Glu-rich. 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) TGGGGTTTAAGGATTCTGCCA 0.423000 51 116 0 0 1 0 0 PSD 5662 broad.mit.edu 37 10 104172287 104172287 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr10:104172287C>T ENST00000020673.5 - 6 2125 c.1599G>A c.(1597-1599)ctG>ctA p.L533L PSD_ENST00000406432.1_Silent_p.L533L NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 533 SEC7. 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) CTGTGCTGTCCAGCTCTGAGT 0.647000 17 23 0 0 1 0 0 C2orf66 401027 broad.mit.edu 37 2 197674109 197674109 + Translation_Start_Site SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:197674109C>T ENST00000342506.2 - 1 891 c.3G>A c.(1-3)atG>atA p.M1I NM_213608.2 NP_998773.1 Q6UXQ4 CB066_HUMAN chromosome 2 open reading frame 66 1 extracellular region endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 TGTCAATGATCATTGAGAGAG 0.478000 17 113 0 0 1 0 0 GPR111 222611 broad.mit.edu 37 6 47649280 47649280 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:47649280G>A ENST00000398742.2 + 5 830 c.781G>A c.(781-783)Gaa>Aaa p.E261K GPR111_ENST00000296862.1_Missense_Mutation_p.E329K|GPR111_ENST00000507065.1_Missense_Mutation_p.E261K Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 329 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 CAGCAGAGATGAACTTCGGAA 0.398000 67 146 0 0 1 0 0 OR2AT4 341152 broad.mit.edu 37 11 74800002 74800002 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:74800002C>T ENST00000305159.3 - 1 797 c.757G>A c.(757-759)Gtg>Atg p.V253M NM_001005285.1 NP_001005285.1 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, member 4 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 12 TAGGTGCCCACGACCAGAAGG 0.542000 37 38 0 0 1 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938261 2938261 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:2938261C>T ENST00000378404.2 + 1 216 c.11C>T c.(10-12)cCg>cTg p.P4L NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 4 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) ATGTTTAATCCGCACGCTTTA 0.567000 29 105 0 0 1 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756286 94756286 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:94756286C>T ENST00000554723.1 - 2 1183 c.765G>A c.(763-765)ggG>ggA p.G255G SERPINA10_ENST00000261994.4_Silent_p.G215G|SERPINA10_ENST00000554173.1_Silent_p.G215G|SERPINA10_ENST00000393096.1_Silent_p.G215G Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 215 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.G215G(1) haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) TGGGAATTTTCCCCCGAGTCT 0.388000 31 51 0 0 1 0 0 RALGPS2 55103 broad.mit.edu 37 1 178848039 178848039 + Missense_Mutation SNP A A C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:178848039A>C ENST00000367635.3 + 10 1086 c.748A>C c.(748-750)Att>Ctt p.I250L RALGPS2_ENST00000324778.4_Missense_Mutation_p.I215L|RALGPS2_ENST00000367634.2_Missense_Mutation_p.I250L|RALGPS2_ENST00000477383.1_3'UTR NM_152663.3 NP_689876.2 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 250 Ras-GEF. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 TTGCCTAGATATTCCCATGTT 0.308000 9 42 0 0 1 0 0 POU2F2 5452 broad.mit.edu 37 19 42636553 42636553 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:42636553G>A ENST00000389341.5 - 1 77 c.11C>T c.(10-12)tCc>tTc p.S4F POU2F2_ENST00000560558.1_Missense_Mutation_p.S4F|POU2F2_ENST00000529952.1_Missense_Mutation_p.S4F|POU2F2_ENST00000560398.1_Missense_Mutation_p.S4F|POU2F2_ENST00000529067.1_Missense_Mutation_p.S4F|POU2F2_ENST00000526816.2_Missense_Mutation_p.S4F|POU2F2_ENST00000533720.1_Missense_Mutation_p.S4F|POU2F2_ENST00000524801.2_Intron|POU2F2_ENST00000342301.4_Missense_Mutation_p.S4F NM_001207025.2|NM_001247994.1|NM_002698.4 NP_001193954.1|NP_001234923.1|NP_002689.1 P09086 PO2F2_HUMAN POU class 2 homeobox 2 4 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) CCCCATGCTGGAGTGAACCAT 0.667000 11 39 0 0 1 0 0 TENC1 23371 broad.mit.edu 37 12 53457201 53457201 + Splice_Site SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:53457201G>A ENST00000314250.6 + 27 4351 c.4061_splice c.e27+1 p.R1354_splice TENC1_ENST00000451358.1_Splice_Site_p.R1344_splice|TENC1_ENST00000379902.3_Splice_Site_p.R1230_splice|TENC1_ENST00000546602.1_Splice_Site_p.R1257_splice|TENC1_ENST00000314276.3_Splice_Site_p.R1364_splice|TENC1_ENST00000552570.1_Splice_Site_p.R1352_splice|TENC1_ENST00000549700.1_Splice_Site_p.R1289_splice NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 1354 intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 CAAGACCGGAGGTGACTCTCC 0.632000 57 117 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196883754 196883754 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:196883754C>T ENST00000367416.2 + 8 1444 c.1307C>T c.(1306-1308)tCc>tTc p.S436F CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.S190F|CFHR4_ENST00000367418.1_Missense_Mutation_p.S190F 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 ACCACAGGTTCCATAGTGTGT 0.368000 27 70 0 0 1 0 0 KDM7A 80853 broad.mit.edu 37 7 139796474 139796474 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:139796474C>T ENST00000397560.2 - 17 2352 c.2255G>A c.(2254-2256)aGg>aAg p.R752K JHDM1D_ENST00000006967.5_Missense_Mutation_p.R752K NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 752 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) TTGTATTTGCCTTTGTAAACA 0.488000 95 89 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24775972 24775972 + Silent SNP T T G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:24775972T>G ENST00000221166.5 + 3 3386 c.2604T>G c.(2602-2604)ggT>ggG p.G868G NEFM_ENST00000437366.2_Silent_p.G829G|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Silent_p.G650G|NEFM_ENST00000433454.2_Silent_p.G492G P07197 NFM_HUMAN neurofilament, medium polypeptide 868 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) GGGGAGATGGTGCTACCAAAT 0.433000 46 69 0 0 1 0 0 MYOZ2 51778 broad.mit.edu 37 4 120072152 120072152 + Missense_Mutation SNP T T A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:120072152T>A ENST00000307128.5 + 3 415 c.202T>A c.(202-204)Tac>Aac p.Y68N NM_016599.4 NP_057683.1 Q9NPC6 MYOZ2_HUMAN myozenin 2 68 protein phosphatase 2B binding endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 ATCTGACAAATACACATTTGA 0.368000 37 76 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160753430 160753430 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:160753430G>A ENST00000274547.2 - 10 1353 c.1136C>T c.(1135-1137)aCt>aTt p.T379I GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000520240.1_Intron|GABRB2_ENST00000393959.1_Missense_Mutation_p.T379I|GABRB2_ENST00000353437.6_Intron|GABRB2_ENST00000517547.1_Intron NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 379 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) gaggtttccagtagggtccca 0.368000 28 79 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25374621 25374621 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr13:25374621C>T ENST00000255324.5 + 13 1759 c.1707C>T c.(1705-1707)atC>atT p.I569I RNF17_ENST00000381921.1_Silent_p.I569I|RNF17_ENST00000255325.5_Silent_p.I570I NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 569 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TAAAAGACATCCAGCCATTAG 0.358000 19 68 0 0 1 0 0 MATR3 9782 broad.mit.edu 37 5 138653389 138653389 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:138653389G>A ENST00000394800.2 + 11 1836 c.1287G>A c.(1285-1287)ctG>ctA p.L429L MATR3_ENST00000502929.1_Silent_p.L429L|MATR3_ENST00000361059.2_Silent_p.L429L|MATR3_ENST00000504203.1_Silent_p.L91L|MATR3_ENST00000394805.3_Silent_p.L429L|MATR3_ENST00000510056.1_Silent_p.L429L|MATR3_ENST00000509990.1_Silent_p.L429L|MATR3_ENST00000503811.1_Silent_p.L141L|MATR3_ENST00000502499.1_Silent_p.L91L P43243 MATR3_HUMAN matrin 3 429 RRM 1. nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CAAATCATCTGATTCTAAATA 0.303000 5 24 0 0 1 0 0 PROM2 150696 broad.mit.edu 37 2 95945693 95945693 + Missense_Mutation SNP G G A rs144977181 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:95945693G>A ENST00000317620.9 + 11 1508 c.1375G>A c.(1375-1377)Gac>Aac p.D459N PROM2_ENST00000317668.4_Missense_Mutation_p.D459N|PROM2_ENST00000542147.1_Missense_Mutation_p.D459N|PROM2_ENST00000403131.2_Missense_Mutation_p.D459N NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 459 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 TGCCAGGGACGACCCCAGCCA 0.647000 23 67 0 0 1 0 0 CSF1R 1436 broad.mit.edu 37 5 149449540 149449540 + Missense_Mutation SNP T T A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:149449540T>A ENST00000286301.3 - 10 1697 c.1406A>T c.(1405-1407)cAg>cTg p.Q469L NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 469 Ig-like C2-type 5. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) CAGCAGGCTCTGCACCGTCAC 0.587000 22 92 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13727678 13727678 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:13727678G>A ENST00000265104.4 - 70 12075 c.11971C>T c.(11971-11973)Ctt>Ttt p.L3991F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3991 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) AAGCAGTCAAGAGATTTATCA 0.383000 Kartagener syndrome 10 63 0 0 1 0 0 PLD3 23646 broad.mit.edu 37 19 40872586 40872586 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:40872586G>A ENST00000409587.1 + 4 494 c.97G>A c.(97-99)Gaa>Aaa p.E33K PLD3_ENST00000409419.1_Missense_Mutation_p.E33K|PLD3_ENST00000409735.4_Missense_Mutation_p.E33K|PLD3_ENST00000409281.1_Missense_Mutation_p.E33K|PLD3_ENST00000356508.5_Missense_Mutation_p.E33K Q8IV08 PLD3_HUMAN phospholipase D family, member 3 33 lipid catabolic process endoplasmic reticulum membrane|integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248) GAAGGCTGCGGAAAAGGTAGG 0.647000 20 97 0 0 1 0 0 ZNF597 146434 broad.mit.edu 37 16 3487533 3487533 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:3487533C>T ENST00000301744.4 - 4 401 c.166G>A c.(166-168)Gaa>Aaa p.E56K LA16c-306E5.2_ENST00000575785.1_RNA NM_152457.1 NP_689670.1 Q96LX8 ZN597_HUMAN zinc finger protein 597 56 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 13 GGCTTGCCTTCCTCTCCTGTT 0.423000 14 72 0 0 1 0 0 MRC1 4360 broad.mit.edu 37 10 17891694 17891694 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr10:17891694G>A ENST00000331429.2 + 7 1278 c.1175G>A c.(1174-1176)aGg>aAg p.R392K MRC1L1_ENST00000457317.1_Missense_Mutation_p.R392K breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 ACCACCTGCAGGAAGGAAGGC 0.463000 32 104 0 0 1 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49303951 49303951 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr15:49303951G>A ENST00000559471.1 - 13 2104 c.1841C>T c.(1840-1842)cCa>cTa p.P614L SECISBP2L_ENST00000261847.3_Missense_Mutation_p.P569L NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 614 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 AATCTCCTGTGGCAAGTCATC 0.418000 36 61 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25543412 25543412 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr18:25543412C>T ENST00000269141.3 - 15 2846 c.2423G>A c.(2422-2424)cGa>cAa p.R808Q AC015933.2_ENST00000423367.1_RNA|CDH2_ENST00000399380.3_Missense_Mutation_p.R777Q NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 808 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding p.R808Q(1) NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TTCATCCATTCGTCGGATTCC 0.532000 22 64 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30099986 30099986 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:30099986G>A ENST00000331968.5 - 10 1863 c.1634C>T c.(1633-1635)cCc>cTc p.P545L PRKD1_ENST00000415220.2_Missense_Mutation_p.P553L NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 545 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) GGAGCCCTTGGGAATGACGGG 0.532000 43 70 0 0 1 0 0 HNRNPDL 9987 broad.mit.edu 37 4 83349429 83349429 + Splice_Site SNP A A C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:83349429A>C ENST00000295470.5 - 2 788 c.e2+1 HNRNPDL_ENST00000502762.1_Splice_Site|HNRNPDL_ENST00000514511.1_Intron|HNRNPDL_ENST00000349655.4_Splice_Site|HNRNPDL_ENST00000602300.1_Splice_Site NM_001207000.1|NM_031372.3 NP_001193929.1|NP_112740.1 heterogeneous nuclear ribonucleoprotein D-like CATAGTTCCTACCTTATCAAC 0.388000 36 99 0 0 1 0 0 SLC1A1 6505 broad.mit.edu 37 9 4567723 4567723 + Missense_Mutation SNP A A T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:4567723A>T ENST00000262352.3 + 6 774 c.538A>T c.(538-540)Aca>Tca p.T180S NM_004170.5 NP_004161.4 P43005 EAA3_HUMAN solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 180 D-aspartate import|L-glutamate import|synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1) 15 Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457) GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183) L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142) GATGAACATGACAGAAGAGTC 0.433000 7 37 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178541139 178541139 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:178541139G>A ENST00000251582.7 - 22 3466 c.3365C>T c.(3364-3366)aCc>aTc p.T1122I NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 1122 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CACTGGGAGGGTAGGCATGAA 0.587000 19 95 0 0 1 0 0 MKNK2 2872 broad.mit.edu 37 19 2037813 2037813 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:2037813G>A ENST00000309340.7 - 14 1394 c.1170C>T c.(1168-1170)ttC>ttT p.F390F MKNK2_ENST00000591601.1_3'UTR|MKNK2_ENST00000591142.1_Silent_p.F134F|MKNK2_ENST00000250896.3_3'UTR NM_017572.3 NP_060042.2 Q9HBH9 MKNK2_HUMAN MAP kinase interacting serine/threonine kinase 2 0 cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|kidney(3)|large_intestine(3)|lung(3) 10 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAGGGAGGAGGAAGTGACTGT 0.547000 4 21 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119134553 119134553 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:119134553G>A ENST00000264245.4 + 12 4309 c.3777G>A c.(3775-3777)aaG>aaA p.K1259K NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 1259 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 AAAGCTCAAAGGAAGAAAAAC 0.552000 25 42 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56321383 56321383 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:56321383C>T ENST00000443188.1 - 5 1303 c.593G>A c.(592-594)aGc>aAc p.S198N NLRP11_ENST00000589824.2_Missense_Mutation_p.S198N|NLRP11_ENST00000592953.1_Missense_Mutation_p.S99N|NLRP11_ENST00000360133.3_Missense_Mutation_p.S198N|NLRP11_ENST00000589093.1_Missense_Mutation_p.S198N NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 198 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) CTCAGCCAAGCTGCTGTTGGT 0.527000 27 53 0 0 1 0 0 OLFM4 10562 broad.mit.edu 37 13 53624248 53624248 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr13:53624248C>T ENST00000219022.2 + 5 953 c.875C>T c.(874-876)cCa>cTa p.P292L NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 292 Olfactomedin-like. cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) TGGGTGGCGCCATTGAATACA 0.443000 37 51 0 0 1 0 0 RORB 6096 broad.mit.edu 37 9 77112897 77112897 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:77112897G>A ENST00000376896.2 + 1 617 c.5G>A c.(4-6)cGa>cAa p.R2Q RP11-171A24.3_ENST00000417576.2_RNA NM_006914.3 NP_008845.2 Q92753 RORB_HUMAN RAR-related orphan receptor B 0 eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 CACACCATGCGAGGTAAGCGA 0.652000 5 30 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7632474 7632474 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:7632474C>T ENST00000359156.4 - 16 3664 c.3462G>A c.(3460-3462)ggG>ggA p.G1154G CD163_ENST00000432237.2_3'UTR|CD163_ENST00000396620.3_3'UTR|CD163_ENST00000541972.1_3'UTR NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 1154 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GTTATAAATTCCCATTTTCCT 0.393000 22 74 0 0 1 0 0 CCDC40 55036 broad.mit.edu 37 17 78032415 78032415 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:78032415G>A ENST00000397545.4 + 8 1309 c.1282G>A c.(1282-1284)Gag>Aag p.E428K CCDC40_ENST00000374877.3_Missense_Mutation_p.E428K|CCDC40_ENST00000374876.4_Missense_Mutation_p.E428K|CCDC40_ENST00000269318.5_Missense_Mutation_p.E428K NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 428 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) GGCCGAGACGGAGAGGATCCG 0.507000 24 57 0 0 1 0 0 FOXRED2 80020 broad.mit.edu 37 22 36889817 36889817 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:36889817G>A ENST00000397224.4 - 8 1751 c.1658C>T c.(1657-1659)cCc>cTc p.P553L FOXRED2_ENST00000216187.6_Missense_Mutation_p.P553L|FOXRED2_ENST00000397223.4_Missense_Mutation_p.P553L|FOXRED2_ENST00000366463.3_Missense_Mutation_p.P105L NM_001102371.1 NP_001095841.1 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 553 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CCGAGGCAGGGGCCAGTGTGC 0.642000 22 64 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10908843 10908843 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr21:10908843G>A ENST00000298232.7 - 22 1815 c.1448C>T c.(1447-1449)tCt>tTt p.S483F TPTE_ENST00000342420.5_Missense_Mutation_p.S463F|TPTE_ENST00000361285.4_Missense_Mutation_p.S501F|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 501 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.S501F(1)|p.S483F(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTCAATAAAAGATGTGTGCAA 0.299000 13 62 0 0 1 0 0 CFAP221 200373 broad.mit.edu 37 2 120395918 120395918 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:120395918C>T ENST00000602047.1 + 21 2312 c.1200C>T c.(1198-1200)ccC>ccT p.P400P PCDP1_ENST00000413369.3_Silent_p.P686P Q4G0U5 PCDP1_HUMAN 686 cilium calmodulin binding Colorectal(110;0.196) GCTCTCACCCCAAGTACAAAT 0.488000 29 157 0 0 1 0 0 TUBAL3 79861 broad.mit.edu 37 10 5435701 5435701 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr10:5435701C>T ENST00000380419.3 - 4 1157 c.1120G>A c.(1120-1122)Gac>Aac p.D374N TUBAL3_ENST00000479328.1_Missense_Mutation_p.D334N NM_024803.2 NP_079079.1 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 374 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 TTGGCCAGGTCCCCACCCGGC 0.592000 30 31 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60884836 60884836 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr20:60884836G>A ENST00000252999.3 - 79 10950 c.10884C>T c.(10882-10884)acC>acT p.T3628T NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3628 Laminin G-like 5. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGGGGCCCACGGTGTGGTTGC 0.677000 17 63 0 0 1 0 0 TRPM5 29850 broad.mit.edu 37 11 2436581 2436581 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:2436581C>T ENST00000452833.1 - 9 1263 c.1255G>A c.(1255-1257)Gag>Aag p.E419K TRPM5_ENST00000528453.1_Missense_Mutation_p.E417K|TRPM5_ENST00000533060.1_Missense_Mutation_p.E417K|TRPM5_ENST00000155858.6_Missense_Mutation_p.E417K Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 417 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) CGGTAGAGCTCCTGCAGCCGC 0.662000 13 14 0 0 1 0 0 BLVRA 644 broad.mit.edu 37 7 43827525 43827525 + Missense_Mutation SNP T T C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:43827525T>C ENST00000402924.1 + 4 198 c.35T>C c.(34-36)gTg>gCg p.V12A BLVRA_ENST00000265523.4_Missense_Mutation_p.V12A NM_001253823.1 NP_001240752.1 P53004 BIEA_HUMAN biliverdin reductase A 12 Poly-Val. heme catabolic process cytosol biliverdin reductase activity|zinc ion binding endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2) 12 NADH(DB00157) TTTGGCGTGGTGGTGGTTGGT 0.562000 50 127 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1807569 1807569 + Missense_Mutation SNP G G C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:1807569G>C ENST00000340107.4 + 13 2000 c.1744G>C c.(1744-1746)Gac>Cac p.D582H FGFR3_ENST00000412135.2_Missense_Mutation_p.D468H|FGFR3_ENST00000440486.2_Missense_Mutation_p.D580H|FGFR3_ENST00000260795.2_Missense_Mutation_p.D580H|FGFR3_ENST00000352904.1_Missense_Mutation_p.D468H|FGFR3_ENST00000481110.2_Missense_Mutation_p.D581H NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 580 Protein kinase. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CTACTCCTTCGACACCTGCAA 0.677000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 29 232 0 0 1 0 0 SMTN 6525 broad.mit.edu 37 22 31484557 31484557 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:31484557G>A ENST00000333137.7 + 4 477 c.259G>A c.(259-261)Gag>Aag p.E87K SMTN_ENST00000475548.1_3'UTR|SMTN_ENST00000347557.2_Missense_Mutation_p.E87K|SMTN_ENST00000358743.1_Missense_Mutation_p.E87K NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 87 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 AGGGCAGCTGGAGTCCATGAA 0.637000 61 115 0 0 1 0 0 OR6C75 390323 broad.mit.edu 37 12 55759766 55759766 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:55759766G>A ENST00000343399.3 + 1 872 c.872G>A c.(871-873)aGa>aAa p.R291K NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 TACACACTGAGAAATAAGCAA 0.393000 27 71 0 0 1 0 0 CRYL1 51084 broad.mit.edu 37 13 21006353 21006353 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr13:21006353G>A ENST00000382812.1 - 6 683 c.455C>T c.(454-456)gCc>gTc p.A152V CRYL1_ENST00000298248.7_Missense_Mutation_p.A174V|CRYL1_ENST00000480748.1_5'UTR Q9Y2S2 CRYL1_HUMAN crystallin, lambda 1 174 fatty acid metabolic process cytosol 3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244) all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061) CTTCATCAGGGCGTGGGTTCT 0.587000 27 47 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201046051 201046051 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:201046051G>A ENST00000362061.3 - 12 2050 c.1824C>T c.(1822-1824)ttC>ttT p.F608F CACNA1S_ENST00000367338.3_Silent_p.F608F NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 608 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) agcctacctggaagacgctga 0.542000 28 117 0 0 1 0 0 SYTL3 94120 broad.mit.edu 37 6 159181711 159181711 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:159181711G>A ENST00000297239.9 + 14 1542 c.1348G>A c.(1348-1350)Gag>Aag p.E450K SYTL3_ENST00000360448.3_Missense_Mutation_p.E382K|SYTL3_ENST00000367081.3_Missense_Mutation_p.E176K Q4VX76 SYTL3_HUMAN synaptotagmin-like 3 450 intracellular protein transport endomembrane system|membrane Rab GTPase binding endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1) 20 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) GAGTAATGGAGAGCTCACAGT 0.552000 41 126 0 0 1 0 0 STK40 83931 broad.mit.edu 37 1 36809543 36809543 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:36809543G>A ENST00000359297.2 - 8 929 c.922C>T c.(922-924)Cgg>Tgg p.R308W STK40_ENST00000373132.3_Missense_Mutation_p.R308W|STK40_ENST00000373130.3_Missense_Mutation_p.R313W|STK40_ENST00000373129.3_Missense_Mutation_p.R308W Q8N2I9 STK40_HUMAN serine/threonine kinase 40 308 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1) 13 Myeloproliferative disorder(586;0.0393) AGCAGCTTCCGGATGAGACAC 0.637000 17 49 0 0 1 0 0 DPEP2 64174 broad.mit.edu 37 16 68026971 68026971 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:68026971G>A ENST00000412757.2 - 3 810 c.145C>T c.(145-147)Ccc>Tcc p.P49S DPEP2_ENST00000393847.1_Missense_Mutation_p.P49S|DPEP2_ENST00000572888.1_Missense_Mutation_p.P49S Q9H4A9 DPEP2_HUMAN dipeptidase 2 49 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) TGGGCTCTGGGGGCGCCCAGC 0.687000 5 22 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153038712 153038712 + Silent SNP C C T rs139989610 byFrequency TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chrX:153038712C>T ENST00000538966.1 + 19 3274 c.3003C>T c.(3001-3003)atC>atT p.I1001I PLXNB3_ENST00000361971.5_Silent_p.I978I|PLXNB3_ENST00000538776.1_Silent_p.I631I|PLXNB3_ENST00000538282.1_Silent_p.I588I NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 978 IPT/TIG 2. axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CGGAGGCCATCGTGTGCCGTA 0.667000 9 24 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5848517 5848517 + Missense_Mutation SNP T T A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:5848517T>A ENST00000327087.8 - 13 1459 c.1388A>T c.(1387-1389)tAc>tTc p.Y463F ANO2_ENST00000356134.5_Missense_Mutation_p.Y464F|ANO2_ENST00000546188.1_Missense_Mutation_p.Y464F|ANO2_ENST00000538154.1_5'UTR Q9NQ90 ANO2_HUMAN anoctamin 2 468 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 GTCCCAAAAGTAGCCCAGTCG 0.413000 3 13 0 0 1 0 0 SUPT5H 6829 broad.mit.edu 37 19 39949493 39949493 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:39949493C>T ENST00000599117.1 + 7 722 c.355C>T c.(355-357)Cgt>Tgt p.R119C SUPT5H_ENST00000432763.2_Missense_Mutation_p.R119C|SUPT5H_ENST00000598725.1_Missense_Mutation_p.R119C|SUPT5H_ENST00000402194.2_Missense_Mutation_p.R115C|SUPT5H_ENST00000359191.6_Missense_Mutation_p.R115C O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 119 cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGATGAAGATCGTTCTGGGGC 0.562000 21 72 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17696727 17696727 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:17696727C>T ENST00000399080.2 - 1 2979 c.2956G>A c.(2956-2958)Gaa>Aaa p.E986K NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 986 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTTAGAAGTTCATTTTCCCTA 0.313000 44 79 0 0 1 0 0 VMAC 400673 broad.mit.edu 37 19 5904923 5904923 + Nonsense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:5904923C>T ENST00000339485.3 + 1 55 c.22C>T c.(22-24)Cag>Tag p.Q8* AC104532.2_ENST00000588891.1_Nonsense_Mutation_p.Q8* NM_001017921.3 NP_001017921.1 Q2NL98 VMAC_HUMAN vimentin-type intermediate filament associated coiled-coil protein 8 cytoplasm lung(1) 1 GCCGGCCCTGCAGATCCGGGA 0.786000 3 6 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558604 140558604 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:140558604G>A ENST00000239444.2 + 1 1234 c.989G>A c.(988-990)gGa>gAa p.G330E NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 330 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCTTTTCTGGAAAATGCACC 0.428000 45 388 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61736465 61736465 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:61736465G>A ENST00000423902.2 + 13 3747 c.3268G>A c.(3268-3270)Gat>Aat p.D1090N CHD7_ENST00000525508.1_Missense_Mutation_p.D1090N|CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1090 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) GATTTTGACTGATTGTCCTGA 0.423000 28 77 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11575526 11575526 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:11575526G>A ENST00000294484.6 + 5 1692 c.1554G>A c.(1552-1554)ctG>ctA p.L518L PTCHD2_ENST00000389575.3_Silent_p.L518L NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 518 SSD. cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) TGGGCATCCTGAATGGGGTGG 0.577000 20 112 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141752115 141752115 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:141752115G>A ENST00000475668.2 + 25 2881 c.2827G>A c.(2827-2829)Gat>Aat p.D943N MGAM_ENST00000549489.2_Missense_Mutation_p.D943N O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 943 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) CACAGATATTGATCTTCTCCT 0.398000 8 13 0 0 1 0 0 OR7A5 26659 broad.mit.edu 37 19 14938300 14938300 + Missense_Mutation SNP A A T rs62122651 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:14938300A>T ENST00000322301.3 - 2 841 c.754T>A c.(754-756)Tat>Aat p.Y252N OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.Y252N Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 ATTGCACCATAAAATAAGGAG 0.478000 16 89 0 0 1 0 0 CYP11B2 1585 broad.mit.edu 37 8 143996574 143996574 + Silent SNP C C A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:143996574C>A ENST00000323110.2 - 3 485 c.483G>T c.(481-483)gtG>gtT p.V161V NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 161 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) CCACTGCATCCACCATCGGGA 0.627000 Familial Hyperaldosteronism type I 7 52 0.000442599 0.000444003 1 1 0 FAM118B 79607 broad.mit.edu 37 11 126110778 126110778 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:126110778C>T ENST00000533050.1 + 4 671 c.178C>T c.(178-180)Cca>Tca p.P60S FAM118B_ENST00000360194.4_Missense_Mutation_p.P60S|FAM118B_ENST00000525728.1_3'UTR NM_024556.3 NP_078832.1 Q9BPY3 F118B_HUMAN family with sequence similarity 118, member B 60 breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1) 13 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784) GCCCCAAGTTCCAGCCCTCAA 0.438000 136 174 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82834175 82834175 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:82834175G>A ENST00000265077.3 + 8 5918 c.5353G>A c.(5353-5355)Gaa>Aaa p.E1785K VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E798K|VCAN_ENST00000502527.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1785 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.E1785*(1) NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GTCTGAAAGGGAAATGACAGA 0.403000 18 86 0 0 1 0 0 GDF3 9573 broad.mit.edu 37 12 7848075 7848075 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:7848075G>A ENST00000329913.3 - 1 297 c.250C>T c.(250-252)Cgc>Tgc p.R84C NM_020634.1 NP_065685.1 Q9NR23 GDF3_HUMAN growth differentiation factor 3 84 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 GGGAGAAAGCGAAGTACATTC 0.483000 40 125 0 0 1 0 0 CYP7B1 9420 broad.mit.edu 37 8 65537031 65537031 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:65537031C>T ENST00000310193.3 - 2 361 c.188G>A c.(187-189)cGa>cAa p.R63Q NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 63 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) GGGGTCTTTTCGTAAGTTCAG 0.383000 56 68 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46896340 46896340 + Missense_Mutation SNP G G A rs138471288 by1000genomes TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr21:46896340G>A ENST00000359759.4 + 5 2140 c.2119G>A c.(2119-2121)Gaa>Aaa p.E707K COL18A1_ENST00000400337.2_Missense_Mutation_p.E292K|COL18A1_ENST00000355480.5_Missense_Mutation_p.E472K P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 707 Nonhelical region 1 (NC1). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CAGCAGCACGGAAGATTCCAG 0.632000 17 46 0 0 1 0 0 TMED9 54732 broad.mit.edu 37 5 177022285 177022285 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:177022285C>T ENST00000332598.6 + 5 633 c.576C>T c.(574-576)ttC>ttT p.F192F NM_017510.4 NP_059980.2 Q9BVK6 TMED9_HUMAN transmembrane emp24 protein transport domain containing 9 192 transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2) 10 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) 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) AGGAGCGCTTCCGGCAGACCA 0.602000 21 82 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82585116 82585116 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:82585116G>A ENST00000423517.2 - 5 5490 c.5153C>T c.(5152-5154)tCg>tTg p.S1718L PCLO_ENST00000333891.8_Missense_Mutation_p.S1718L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1649 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 ATGCAGACTCGAAGATCCCTC 0.458000 22 168 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33559928 33559928 + Silent SNP A A C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:33559928A>C ENST00000228567.3 - 3 1169 c.873T>G c.(871-873)acT>acG p.T291T SYT10_ENST00000535526.1_Silent_p.T110T NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 291 C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GAGGATTTAAAGTCTTTCTGT 0.363000 21 63 0 0 1 0 0 MKNK1 8569 broad.mit.edu 37 1 47046283 47046283 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:47046283G>A ENST00000371946.4 - 4 316 c.153C>T c.(151-153)acC>acT p.T51T MKNK1_ENST00000545730.1_Silent_p.T51T|MKNK1_ENST00000341183.5_Silent_p.T51T|MKNK1_ENST00000428112.2_Silent_p.T51T|MKNK1_ENST00000371945.4_Silent_p.T51T|MKNK1_ENST00000465783.1_Silent_p.T51T|MKNK1_ENST00000371944.4_5'UTR NM_003684.5 NP_003675.2 Q9BUB5 MKNK1_HUMAN MAP kinase interacting serine/threonine kinase 1 51 Protein kinase. intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 13 Acute lymphoblastic leukemia(166;0.155) GCAATTCAGAGGTCAGCTTGT 0.468000 22 62 0 0 1 0 0 RAX 30062 broad.mit.edu 37 18 56939713 56939713 + Silent SNP C C A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr18:56939713C>A ENST00000334889.3 - 2 609 c.423G>T c.(421-423)acG>acT p.T141T RAX_ENST00000256852.7_Intron NM_013435.2 NP_038463.2 Q9Y2V3 RX_HUMAN retina and anterior neural fold homeobox 141 visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.T141T(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 Lung NSC(161;0.0804)|Colorectal(73;0.0946) STAD - Stomach adenocarcinoma(84;0.18) TGGTGAAAGTCGTGCGGTTCC 0.652000 75 168 7.14593e-30 7.30763e-30 1 1 0 PDPN 10630 broad.mit.edu 37 1 13940211 13940211 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:13940211G>A ENST00000294489.6 + 4 930 c.589G>A c.(589-591)Gtt>Att p.V197I PDPN_ENST00000513143.1_Missense_Mutation_p.V79I|PDPN_ENST00000475043.1_Missense_Mutation_p.V79I|PDPN_ENST00000376061.4_Missense_Mutation_p.V79I|PDPN_ENST00000376057.4_Missense_Mutation_p.V197I|PDPN_ENST00000487038.1_Missense_Mutation_p.V79I|PDPN_ENST00000509009.1_Missense_Mutation_p.V116I Q86YL7 PDPN_HUMAN podoplanin 121 cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) ACAGACAACAGTTGAGAAAGG 0.318000 10 50 0 0 1 0 0 C10orf68 79741 broad.mit.edu 37 10 33137621 33137621 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr10:33137621C>T ENST00000375030.2 + 20 2094 c.1476C>T c.(1474-1476)atC>atT p.I492I C10orf68_ENST00000375028.3_Silent_p.I537I|C10orf68_ENST00000375025.4_Silent_p.I597I Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 533 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 CAAAAGTGATCAATTTATCAC 0.284000 31 60 0 0 1 0 0 COLEC12 81035 broad.mit.edu 37 18 335158 335158 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr18:335158C>T ENST00000400256.3 - 6 1607 c.1400G>A c.(1399-1401)gGa>gAa p.G467E NM_130386.2 NP_569057.1 Q5KU26 COL12_HUMAN collectin sub-family member 12 467 Collagen-like 1. carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) TCCTTTCTGTCCCTTGTTGCC 0.622000 7 114 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64469451 64469451 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:64469451C>T ENST00000358025.3 + 30 4030 c.3800C>T c.(3799-3801)tCc>tTc p.S1267F SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.S1267F|SYNE2_ENST00000554584.1_Missense_Mutation_p.S1267F NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1267 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATCCAAGATTCCATAGCAAAA 0.363000 23 49 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9063836 9063836 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:9063836G>A ENST00000397910.4 - 3 23813 c.23610C>T c.(23608-23610)tcC>tcT p.S7870S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7872 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 GACCTGGGATGGAGGTGACGT 0.522000 15 88 0 0 1 0 0 NDUFAF3 25915 broad.mit.edu 37 3 49060173 49060173 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:49060173C>T ENST00000326925.6 + 3 1443 c.309C>T c.(307-309)tcC>tcT p.S103S NDUFAF3_ENST00000395458.2_Silent_p.S46S|NDUFAF3_ENST00000326912.4_Silent_p.S46S|NDUFAF3_ENST00000451378.2_Silent_p.S46S NM_199069.1 NP_951032.1 Q9BU61 NDUF3_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 3 103 mitochondrial respiratory chain complex I assembly mitochondrial inner membrane|nucleus protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4) 8 ACAGCTTTTCCCTCTTCTGGT 0.592000 94 136 0 0 1 0 0 SAMD15 161394 broad.mit.edu 37 14 77844277 77844277 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:77844277G>A ENST00000216471.4 + 1 802 c.516G>A c.(514-516)tcG>tcA p.S172S SAMD15_ENST00000533095.2_Intron NM_001010860.1 NP_001010860.1 Q9P1V8 SAM15_HUMAN sterile alpha motif domain containing 15 172 breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTGAGGTTTCGGGGGCCACAG 0.483000 73 75 0 0 1 0 0 PGD 5226 broad.mit.edu 37 1 10479790 10479790 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:10479790C>T ENST00000538557.1 + 13 1641 c.1397C>T c.(1396-1398)tCg>tTg p.S466L PGD_ENST00000498356.1_3'UTR|PGD_ENST00000541529.1_Missense_Mutation_p.S457L|PGD_ENST00000270776.8_Missense_Mutation_p.S479L P52209 6PGD_HUMAN phosphogluconate dehydrogenase 479 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 14 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) GTGTCATCCTCGTCATACAAT 0.567000 30 216 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120823587 120823587 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:120823587C>T ENST00000527524.2 + 15 1901 c.1614C>T c.(1612-1614)tcC>tcT p.S538S GRIK4_ENST00000438375.2_Silent_p.S538S Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 538 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.S538S(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) GCTATTTCTCCTTCCTGGACC 0.547000 OREG0021429 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 130 0 0 1 0 0 PRPSAP2 5636 broad.mit.edu 37 17 18832139 18832139 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:18832139G>A ENST00000268835.2 + 11 1103 c.820G>A c.(820-822)Gat>Aat p.D274N PRPSAP2_ENST00000536323.1_Missense_Mutation_p.D188N|PRPSAP2_ENST00000419071.2_Missense_Mutation_p.D234N|PRPSAP2_ENST00000542013.1_Intron NM_002767.3 NP_002758.1 O60256 KPRB_HUMAN phosphoribosyl pyrophosphate synthetase-associated protein 2 274 nucleotide biosynthetic process enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 CATCATTGATGATGTTGACAG 0.433000 50 79 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3887871 3887871 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:3887871G>A ENST00000319331.3 + 2 2307 c.1546G>A c.(1546-1548)Gtt>Att p.V516I SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 516 integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) AACAATTAAGGTTAATGGGAC 0.428000 52 84 0 0 1 0 0 SLC7A10 56301 broad.mit.edu 37 19 33703484 33703484 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:33703484G>A ENST00000253188.3 - 4 716 c.570C>T c.(568-570)ttC>ttT p.F190F NM_019849.2 NP_062823.1 Q9NS82 AAA1_HUMAN solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 190 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) TCCCGCCTGTGAACATGTCCT 0.677000 20 76 0 0 1 0 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112999875 112999875 + Silent SNP T T C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:112999875T>C ENST00000271277.6 + 6 1986 c.1761T>C c.(1759-1761)ccT>ccC p.P587P CTTNBP2NL_ENST00000607039.1_3'UTR|RP4-671G15.3_ENST00000508462.1_RNA NM_018704.2 NP_061174.1 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 587 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) CCAAGAAACCTGGCCTCACCC 0.567000 35 112 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74042590 74042590 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:74042590G>A ENST00000409561.1 + 3 1361 c.1240G>A c.(1240-1242)Gaa>Aaa p.E414K NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 414 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 GCCTGGTTCTGAAAATGCCAA 0.458000 23 53 0 0 1 0 0 UBXN10 127733 broad.mit.edu 37 1 20517502 20517502 + Nonsense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:20517502C>T ENST00000375099.3 + 2 532 c.448C>T c.(448-450)Caa>Taa p.Q150* NM_152376.3 NP_689589.1 Q96LJ8 UBX10_HUMAN UBX domain protein 10 150 endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2) 14 GGCTCTTTACCAAGACGAGAC 0.527000 31 60 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77377635 77377635 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:77377635C>T ENST00000451710.3 - 26 4189 c.3952G>A c.(3952-3954)Gaa>Aaa p.E1318K TRPM6_ENST00000376864.4_Missense_Mutation_p.E1318K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.E1313K|TRPM6_ENST00000361255.3_Missense_Mutation_p.E1313K|TRPM6_ENST00000360774.1_Missense_Mutation_p.E1318K Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1318 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TCTTGCCTTTCCTGGTCATTT 0.488000 100 272 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228860234 228860234 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:228860234C>T ENST00000392056.3 - 8 4671 c.4625G>A c.(4624-4626)cGa>cAa p.R1542Q SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1542Q NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1542 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) CCTCATGGATCGCTCACTGAG 0.498000 103 206 0 0 1 0 0 ARMC9 80210 broad.mit.edu 37 2 232079626 232079626 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:232079626G>A ENST00000349938.4 + 4 454 c.260G>A c.(259-261)cGa>cAa p.R87Q ARMC9_ENST00000483477.1_3'UTR NM_001271466.1|NM_025139.3 NP_001258395.1|NP_079415.3 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 87 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) AGTTCCATCCGAGATGGGGAC 0.488000 33 61 0 0 1 0 0 SNAI1 6615 broad.mit.edu 37 20 48600606 48600606 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr20:48600606C>T ENST00000244050.2 + 2 389 c.328C>T c.(328-330)Cct>Tct p.P110S NM_005985.3 NP_005976.2 O95863 SNAI1_HUMAN snail family zinc finger 1 110 epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2) 17 BRCA - Breast invasive adenocarcinoma(9;4.03e-06) CTCACCGGCTCCTTCGTCCTT 0.642000 152 179 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120823586 120823586 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:120823586C>T ENST00000527524.2 + 15 1900 c.1613C>T c.(1612-1614)tCc>tTc p.S538F GRIK4_ENST00000438375.2_Missense_Mutation_p.S538F Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 538 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) GGCTATTTCTCCTTCCTGGAC 0.547000 OREG0021429 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 130 0 0 1 0 0 AMPD3 272 broad.mit.edu 37 11 10516501 10516501 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:10516501G>A ENST00000444303.2 + 7 1185 c.713G>A c.(712-714)gGg>gAg p.G238E AMPD3_ENST00000396554.3_Missense_Mutation_p.G406E NM_001172431.1 NP_001165902.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 397 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) AACCCTGTGGGGGCCAGTGAG 0.532000 46 161 0 0 1 0 0 CYTH2 9266 broad.mit.edu 37 19 48978196 48978196 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:48978196C>T ENST00000427476.1 + 8 1098 c.798C>T c.(796-798)ctC>ctT p.L266L CYTH2_ENST00000452733.2_Silent_p.L266L NM_004228.6|NM_017457.5 NP_004219.3|NP_059431.1 Q99418 CYH2_HUMAN cytohesin 2 266 PH. actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|membrane fraction|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 AGGGCTGGCTCCTGAAGCTGG 0.627000 28 74 0 0 1 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159818952 159818952 + RNA SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:159818952C>T ENST00000497452.1 - 0 517 AAAAAGACCTCCAGTGTCACG 0.488000 68 171 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20620574 20620574 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:20620574C>T ENST00000504154.1 + 37 4784 c.4532C>T c.(4531-4533)tCc>tTc p.S1511F SLIT2_ENST00000273739.5_Missense_Mutation_p.S1524F|SLIT2_ENST00000503837.1_Missense_Mutation_p.S1507F|SLIT2_ENST00000503823.1_Missense_Mutation_p.S1503F NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1511 CTCK. 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 GACGGCTCCTCCTTTGTGGAC 0.547000 29 66 0 0 1 0 0 HEXB 3074 broad.mit.edu 37 5 74016473 74016473 + Missense_Mutation SNP G G A rs121907983 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:74016473G>A ENST00000511181.1 + 13 1751 c.839G>A c.(838-840)cGg>cAg p.R280Q HEXB_ENST00000261416.7_Missense_Mutation_p.R505Q|HEXB_ENST00000509579.1_5'UTR|HEXB_ENST00000513539.1_3'UTR P07686 HEXB_HUMAN hexosaminidase B (beta polypeptide) 505 cell death lysosome cation binding|protein heterodimerization activity|protein homodimerization activity endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.72e-57) TTTAGGCCTCGGGCAAGTGCT 0.458000 11 59 0 0 1 0 0 SP100 6672 broad.mit.edu 37 2 231404082 231404082 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:231404082C>T ENST00000340126.4 + 25 2226 c.2195C>T c.(2194-2196)tCc>tTc p.S732F AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA NM_001080391.1 NP_001073860.1 P23497 SP100_HUMAN SP100 nuclear antigen 480 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CACATCCCATCCGTGGAAGCT 0.507000 26 54 0 0 1 0 0 GCG 2641 broad.mit.edu 37 2 163003868 163003868 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:163003868C>T ENST00000418842.2 - 3 503 c.249G>A c.(247-249)agG>agA p.R83R GCG_ENST00000375497.3_Silent_p.R83R NM_002054.4 NP_002045.1 P01275 GLUC_HUMAN glucagon 83 Cleavage; by PCSK1 and PCSK2. cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity p.R83S(2) breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9) 14 Exenatide(DB01276)|Phentolamine(DB00692) CTTACCTGTTCCTCTTGGTAT 0.408000 47 219 0 0 1 0 0 MCM8 84515 broad.mit.edu 37 20 5933142 5933142 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr20:5933142C>T ENST00000378896.3 + 3 598 c.221C>T c.(220-222)cCa>cTa p.P74L MCM8_ENST00000265187.4_Missense_Mutation_p.P74L|MCM8_ENST00000378883.1_Missense_Mutation_p.P74L|MCM8_ENST00000378886.2_Missense_Mutation_p.P74L NM_032485.4|NM_182802.1 NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 74 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 CGATTCATACCATATAAAGGC 0.338000 72 85 0 0 1 0 0 PLOD1 5351 broad.mit.edu 37 1 12034841 12034841 + Silent SNP C C T rs140513387 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:12034841C>T ENST00000196061.4 + 19 2187 c.2160C>T c.(2158-2160)atC>atT p.I720I PLOD1_ENST00000376369.3_Silent_p.I767I NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 720 Fe2OG dioxygenase. epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane 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-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) CCCGCTACATCGCAGTCTCCT 0.622000 42 111 0 0 1 0 0 TRBV2 28620 broad.mit.edu 37 7 142001122 142001122 + RNA SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:142001122G>A ENST00000455382.2 + 0 288 TTATAATAATGAAATCTCAGA 0.398000 21 32 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133152347 133152347 + Missense_Mutation SNP A A C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:133152347A>C ENST00000388996.4 - 11 1964 c.1544T>G c.(1543-1545)cTg>cGg p.L515R KCNQ3_ENST00000521134.1_Missense_Mutation_p.L395R|KCNQ3_ENST00000519445.1_Missense_Mutation_p.L515R NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 515 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GGCGGCCTTCAGGGTGGGGAT 0.617000 41 46 0 0 1 0 0 ATP6V0E2 155066 broad.mit.edu 37 7 149575855 149575855 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:149575855G>A ENST00000456496.2 + 3 1339 c.388G>A c.(388-390)Gag>Aag p.E130K ATP6V0E2_ENST00000425642.2_Missense_Mutation_p.E81K|ATP6V0E2_ENST00000479613.1_Intron|ATP6V0E2_ENST00000606024.1_Intron|ATP6V0E2_ENST00000421974.2_Intron|ATP6V0E2_ENST00000495408.1_3'UTR|ATP6V0E2_ENST00000464662.1_Missense_Mutation_p.E81K NM_145230.2 NP_660265.2 Q8NHE4 VA0E2_HUMAN ATPase, H+ transporting V0 subunit e2 81 ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.00256) CTTCCTGTGGGAGTGACCCGC 0.657000 32 120 0 0 1 0 0 HPR 3250 broad.mit.edu 37 16 72107825 72107825 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:72107825G>A ENST00000540303.2 + 2 72 c.40G>A c.(40-42)Gga>Aga p.G14R HPR_ENST00000356967.5_Missense_Mutation_p.G14R|HPR_ENST00000561690.1_Missense_Mutation_p.G14R|HPR_ENST00000228226.8_Missense_Mutation_p.G51R NM_020995.3 NP_066275.3 P00739 HPTR_HUMAN haptoglobin-related protein 14 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) CCTGCTCTGGGGACGACAGCT 0.527000 82 203 0 0 1 0 0 DCX 1641 broad.mit.edu 37 X 110576366 110576366 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chrX:110576366C>T ENST00000338081.3 - 4 1135 c.964G>A c.(964-966)Gat>Aat p.D322N DCX_ENST00000488120.1_Missense_Mutation_p.D241N|DCX_ENST00000356915.2_Missense_Mutation_p.D241N|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Missense_Mutation_p.D241N|DCX_ENST00000371993.2_Missense_Mutation_p.D241N NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 322 Doublecortin 2. 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 CCAAAGAAATCATGGAGACAA 0.398000 12 11 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 76975930 76975930 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:76975930G>A ENST00000409911.1 - 3 1890 c.1667C>T c.(1666-1668)cCa>cTa p.P556L LRRTM4_ENST00000409093.1_Missense_Mutation_p.P555L|LRRTM4_ENST00000409884.1_Missense_Mutation_p.P555L NM_001134745.1 NP_001128217.1 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 555 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) GTCCTGCTCTGGAGACACTGT 0.592000 33 123 0 0 1 0 0 FLVCR1 28982 broad.mit.edu 37 1 213032220 213032220 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:213032220C>T ENST00000366971.4 + 1 624 c.426C>T c.(424-426)acC>acT p.T142T NM_014053.3 NP_054772.1 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular receptor 1 142 cell death|cellular iron ion homeostasis|heme export|transmembrane transport integral to plasma membrane heme transporter activity|protein binding|receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2) 12 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) ACGGTGTCACCTTGCTGCACA 0.582000 22 115 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76499049 76499049 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:76499049G>A ENST00000389840.5 - 32 5113 c.4989C>T c.(4987-4989)acC>acT p.T1663T DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000585328.1_Silent_p.T1664T dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CGTGCCGGAGGGTAGAGCACA 0.622000 21 35 0 0 1 0 0 NOMO1 23420 broad.mit.edu 37 16 14972641 14972641 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:14972641C>T ENST00000287667.7 + 23 2878 c.2707C>T c.(2707-2709)Cgt>Tgt p.R903C NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 903 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 TGGCCTGTTTCGTTCCAACCT 0.532000 42 257 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101381342 101381342 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:101381342C>T ENST00000392979.3 + 7 884 c.523C>T c.(523-525)Cgg>Tgg p.R175W ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.R210W NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 210 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 AAGCAGGTTTCGGAGATGGTT 0.507000 HNSCC(74;0.22) OREG0022059 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 161 404 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114057944 114057944 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:114057944C>T ENST00000462705.1 - 12 2736 c.1915G>A c.(1915-1917)Ggg>Agg p.G639R ZBTB20_ENST00000393785.2_Missense_Mutation_p.G639R|ZBTB20_ENST00000481632.1_Missense_Mutation_p.G639R|ZBTB20_ENST00000471418.1_Missense_Mutation_p.G639R|ZBTB20_ENST00000357258.3_Missense_Mutation_p.G639R|ZBTB20_ENST00000474710.1_Missense_Mutation_p.G712R|ZBTB20_ENST00000464560.1_Missense_Mutation_p.G639R NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 712 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) TAAGTGGTCCCCTCCGTGCAG 0.627000 44 93 0 0 1 0 0 MCHR2 84539 broad.mit.edu 37 6 100382375 100382375 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:100382375C>T ENST00000281806.2 - 5 920 c.606G>A c.(604-606)acG>acA p.T202T MCHR2_ENST00000445970.1_Silent_p.T202T|MCHR2_ENST00000369212.1_Silent_p.T202T NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 202 integral to membrane|plasma membrane G-protein coupled receptor activity p.T202T(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) AAGTTGTTATCGTCAAATAAA 0.333000 24 77 0 0 1 0 0 NDN 4692 broad.mit.edu 37 15 23932116 23932116 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr15:23932116C>T ENST00000331837.4 - 1 334 c.249G>A c.(247-249)ccG>ccA p.P83P NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 83 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding p.P83P(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GGGCCGCGCTCGGGGCCTGGT 0.756000 Prader-Willi syndrome 21 40 0 0 1 0 0 NOMO2 283820 broad.mit.edu 37 16 18555041 18555041 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:18555041G>A ENST00000330537.6 - 7 803 c.633C>T c.(631-633)ccC>ccT p.P211P NOMO2_ENST00000543392.1_Silent_p.P44P|NOMO2_ENST00000381474.3_Silent_p.P211P NM_173614.2 NP_775885.1 Q5JPE7 NOMO2_HUMAN NODAL modulator 2 211 endoplasmic reticulum membrane|integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1) 20 CAACTATGAGGGGACTGGCCG 0.438000 19 127 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25593679 25593679 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr18:25593679G>A ENST00000269141.3 - 3 790 c.367C>T c.(367-369)Ctg>Ttg p.L123L CDH2_ENST00000399380.3_Silent_p.L92L NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 123 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GTTGGCTTCAGGCTCAATTTT 0.418000 5 353 0 0 1 0 0 LMF2 91289 broad.mit.edu 37 22 50941845 50941845 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:50941845G>A ENST00000216080.5 - 14 2192 c.2024C>T c.(2023-2025)tCg>tTg p.S675L LMF2_ENST00000380796.3_Missense_Mutation_p.S587L|LMF2_ENST00000474879.2_Missense_Mutation_p.S700L Q9BU23 LMF2_HUMAN lipase maturation factor 2 700 endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGTGGTCCTCGAACTACTGGA 0.672000 29 38 0 0 1 0 0 CAD 790 broad.mit.edu 37 2 27449086 27449086 + Nonsense_Mutation SNP G G T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:27449086G>T ENST00000264705.4 + 13 2092 c.1930G>T c.(1930-1932)Gag>Tag p.E644* CAD_ENST00000403525.1_Intron NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 644 ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GAATGACAGGGAGTATCAGCT 0.552000 44 72 3.76604e-16 3.83473e-16 1 1 0 TBX15 6913 broad.mit.edu 37 1 119474373 119474373 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:119474373G>A ENST00000369429.3 - 2 297 c.288C>T c.(286-288)gcC>gcT p.A96A TBX15_ENST00000207157.3_5'UTR Q96SF7 TBX15_HUMAN T-box 15 96 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) CAGCACCAGAGGCCAGGTCAG 0.527000 18 45 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238259780 238259780 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:238259780C>T ENST00000295550.4 - 27 7261 c.6809G>A c.(6808-6810)gGa>gAa p.G2270E COL6A3_ENST00000472056.1_Missense_Mutation_p.G1663E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2069E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2064E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2070E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2064E NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2270 Collagen-like 4.|Triple-helical region. 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) AACCTTTCTTCCCAGTGGACC 0.587000 7 92 0 0 1 0 0 ST8SIA2 8128 broad.mit.edu 37 15 92988086 92988086 + Missense_Mutation SNP G G A rs147607028 byFrequency TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr15:92988086G>A ENST00000268164.3 + 5 1006 c.769G>A c.(769-771)Gag>Aag p.E257K ST8SIA2_ENST00000539113.1_Missense_Mutation_p.E236K NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 257 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) GTGGGTCAACGAGCTTATCCT 0.642000 51 115 0 0 1 0 0 NGEF 25791 broad.mit.edu 37 2 233756082 233756082 + Nonsense_Mutation SNP T T A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:233756082T>A ENST00000264051.3 - 8 1536 c.1258A>T c.(1258-1260)Aag>Tag p.K420* NGEF_ENST00000373552.4_Nonsense_Mutation_p.K328*|NGEF_ENST00000539537.1_Nonsense_Mutation_p.K143* NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 420 DH. apoptosis|cell differentiation|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 cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) ACCAACAGCTTGAGGCGTGTG 0.612000 42 80 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141130601 141130601 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:141130601C>T ENST00000389484.3 - 69 11715 c.10744G>A c.(10744-10746)Gaa>Aaa p.E3582K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3582 LDL-receptor class A 27. 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) TTCTCATCTTCCCCATATTTG 0.363000 TSP Lung(27;0.18) 24 175 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129070703 129070703 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:129070703G>A ENST00000274487.4 + 22 3518 c.3373G>A c.(3373-3375)Gaa>Aaa p.E1125K CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 1125 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) ACATGGAAATGAATGTTTTTC 0.418000 27 86 0 0 1 0 0 CALCRL 10203 broad.mit.edu 37 2 188223969 188223969 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:188223969G>A ENST00000409998.1 - 12 1593 c.812C>T c.(811-813)gCc>gTc p.A271V CALCRL_ENST00000410068.1_Missense_Mutation_p.A271V|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.A271V Q16602 CALRL_HUMAN calcitonin receptor-like 271 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) TCTAGCAATGGCATGTATACA 0.239000 4 12 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413034 105413034 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:105413034G>A ENST00000333244.5 - 7 8873 c.8754C>T c.(8752-8754)gtC>gtT p.V2918V AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2918 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGGGGCCCTTGACGTCTATCT 0.652000 207 219 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3164368 3164368 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr18:3164368G>A ENST00000400569.3 - 10 1742 c.1409C>T c.(1408-1410)tCc>tTc p.S470F MYOM1_ENST00000261606.7_Missense_Mutation_p.S470F|MYOM1_ENST00000356443.4_Missense_Mutation_p.S470F P52179 MYOM1_HUMAN myomesin 1 470 Ig-like C2-type 2. striated muscle myosin thick filament structural constituent of muscle 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 GTTGAGATGGGAAAATGTCAG 0.398000 4 32 0 0 1 0 0 CRYBB1 1414 broad.mit.edu 37 22 26997985 26997985 + Splice_Site SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:26997985C>T ENST00000215939.2 - 5 563 c.432_splice c.e5-1 p.D145_splice NM_001887.3 NP_001878.1 P53674 CRBB1_HUMAN crystallin, beta B1 145 Connecting peptide. visual perception structural constituent of eye lens breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4) 31 TCCTGGGCATCCTGGGGAAAG 0.562000 21 69 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92733606 92733606 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:92733606G>A ENST00000379958.2 - 3 2074 c.1805C>T c.(1804-1806)tCa>tTa p.S602L NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 602 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) ACATTGGCTTGAAATTTCATC 0.343000 50 139 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52323836 52323836 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:52323836C>T ENST00000356297.4 - 16 2136 c.2036G>A c.(2035-2037)gGg>gAg p.G679E PXDNL_ENST00000543296.1_Missense_Mutation_p.G679E NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 679 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CACAGTGAGCCCCTGCTTCAC 0.507000 8 9 0 0 1 0 0 RPL3L 6123 broad.mit.edu 37 16 1995507 1995507 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:1995507G>A ENST00000268661.7 - 9 1254 c.1160C>T c.(1159-1161)gCc>gTc p.A387V NM_005061.2 NP_005052.1 Q92901 RL3L_HUMAN ribosomal protein L3-like 387 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 17 CACCATGAAGGCCCTCTTCTC 0.597000 21 45 0 0 1 0 0 CASP3 836 broad.mit.edu 37 4 185550514 185550514 + Missense_Mutation SNP G G A rs79348369 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:185550514G>A ENST00000308394.4 - 8 1008 c.746C>T c.(745-747)tCc>tTc p.S249F CASP3_ENST00000523916.1_Missense_Mutation_p.S249F|CASP3_ENST00000517513.1_3'UTR|CASP3_ENST00000393585.2_3'UTR NM_004346.3 NP_004337.2 P42574 CASP3_HUMAN caspase 3, apoptosis-related cysteine peptidase 249 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor cytosol|mitochondrion|nucleoplasm|plasma membrane cysteine-type endopeptidase activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592) all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161) Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641) AAAGGAAAAGGACTCAAATTC 0.398000 65 92 0 0 1 0 0 CCDC153 283152 broad.mit.edu 37 11 119063924 119063924 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:119063924C>T ENST00000503566.2 - 4 285 c.286G>A c.(286-288)Gag>Aag p.E96K CCDC153_ENST00000415318.1_Missense_Mutation_p.E96K Q494R4 CC153_HUMAN coiled-coil domain containing 153 96 lung(3)|stomach(1) 4 TGCATATCCTCCTGCAGGGCA 0.597000 47 43 0 0 1 0 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31854531 31854531 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:31854531G>A ENST00000397525.1 - 7 1116 c.893C>T c.(892-894)cCt>cTt p.P298L EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.P298L|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.P135L|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.P298L NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 298 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 GGACTGCTCAGGCAAGACAGC 0.507000 39 70 0 0 1 0 0 VAPA 9218 broad.mit.edu 37 18 9936135 9936135 + Silent SNP G G T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr18:9936135G>T ENST00000400000.2 + 3 516 c.261G>T c.(259-261)ccG>ccT p.P87P VAPA_ENST00000340541.4_Silent_p.P87P|VAPA_ENST00000584796.1_3'UTR NM_003574.5|NM_194434.2 NP_003565.4|NP_919415.2 Q9P0L0 VAPA_HUMAN VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa 87 MSP. cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle protein heterodimerization activity|signal transducer activity|structural molecule activity breast(1)|lung(2)|prostate(1) 4 ACTATGATCCGAATGAAAAGA 0.333000 58 121 5.5144e-22 5.62706e-22 1 1 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159819839 159819839 + RNA SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:159819839C>T ENST00000497452.1 - 0 517 ATTATGGGCCCTACGGTTCTT 0.408000 33 84 0 0 1 0 0 PHACTR3 116154 broad.mit.edu 37 20 58342363 58342363 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr20:58342363G>A ENST00000371015.1 + 5 1131 c.664G>A c.(664-666)Gag>Aag p.E222K PHACTR3_ENST00000355648.4_Missense_Mutation_p.E181K|PHACTR3_ENST00000359926.3_Missense_Mutation_p.E219K|PHACTR3_ENST00000395636.2_Missense_Mutation_p.E181K|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000541461.1_Missense_Mutation_p.E181K|PHACTR3_ENST00000361300.4_Intron NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 222 Pro-rich. nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) CAGACCTCTGGAGAGATCCGT 0.617000 15 111 0 0 1 0 0 CABS1 85438 broad.mit.edu 37 4 71201164 71201164 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:71201164C>T ENST00000273936.4 + 1 467 c.408C>T c.(406-408)tcC>tcT p.S136S NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 136 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TAGATTTTTCCACTGACATAG 0.383000 28 76 0 0 1 0 0 GIGYF1 64599 broad.mit.edu 37 7 100281485 100281485 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:100281485G>A ENST00000275732.5 - 16 3134 c.1925C>T c.(1924-1926)tCg>tTg p.S642L NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 642 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GAGGCGGCCCGAATCTGGCAC 0.597000 4 12 0 0 1 0 0 ALPP 250 broad.mit.edu 37 2 233245457 233245457 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:233245457C>T ENST00000392027.2 + 8 1259 c.990C>T c.(988-990)ctC>ctT p.L330L AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 330 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GCTTCTTCCTCTTCGTGGAGG 0.662000 31 87 0 0 1 0 0 UPF1 5976 broad.mit.edu 37 19 18943063 18943063 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:18943063C>T ENST00000262803.5 + 1 317 c.45C>T c.(43-45)ttC>ttT p.F15F UPF1_ENST00000599848.1_Silent_p.F15F NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 15 Sufficient for interaction with RENT2. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 CTCTCACTTTCCTGGACACGG 0.687000 8 75 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28610986 28610986 + Missense_Mutation SNP T T C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr18:28610986T>C ENST00000434452.1 - 3 461 c.307A>G c.(307-309)Aaa>Gaa p.K103E DSC3_ENST00000360428.4_Missense_Mutation_p.K103E NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 103 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) TGTGTCTGTTTCCTTTTGTCA 0.353000 34 73 0 0 1 0 0 SPG21 51324 broad.mit.edu 37 15 65273318 65273318 + Missense_Mutation SNP C C A rs142452716 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr15:65273318C>A ENST00000204566.2 - 3 404 c.109G>T c.(109-111)Gcg>Tcg p.A37S SPG21_ENST00000433215.2_Missense_Mutation_p.A37S|SPG21_ENST00000416889.2_Missense_Mutation_p.A37S|SPG21_ENST00000560564.1_5'UTR|SPG21_ENST00000559199.1_5'UTR NM_016630.3 NP_057714.1 Q9NZD8 SPG21_HUMAN spastic paraplegia 21 (autosomal recessive, Mast syndrome) 37 cell death cytosol|endosome membrane|trans-Golgi network transport vesicle CD4 receptor binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1) 10 CGGGGGCCCGCGTCATAGAGC 0.453000 39 97 1.23713e-20 1.26105e-20 1 1 0 DENND3 22898 broad.mit.edu 37 8 142146802 142146802 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:142146802C>T ENST00000519811.1 + 2 367 c.297C>T c.(295-297)ctC>ctT p.L99L DENND3_ENST00000262585.2_Silent_p.L19L|DENND3_ENST00000518347.1_Silent_p.L99L|DENND3_ENST00000424248.1_Silent_p.L19L A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 19 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GGAAGGGCCTCCCGGGGCCCC 0.647000 9 29 0 0 1 0 0 RIMS3 9783 broad.mit.edu 37 1 41107390 41107390 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:41107390G>A ENST00000372684.3 - 3 677 c.208C>T c.(208-210)Ccg>Tcg p.P70S RIMS3_ENST00000372683.1_Missense_Mutation_p.P70S NM_014747.2 NP_055562.2 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 70 neurotransmitter transport cell junction|synapse NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) CCAGGCTGCGGAAGCTGGAGT 0.642000 25 81 0 0 1 0 0 RAMP1 10267 broad.mit.edu 37 2 238785922 238785922 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:238785922C>T ENST00000254661.4 + 2 241 c.109C>T c.(109-111)Cgg>Tgg p.R37W RAMP1_ENST00000403885.1_Missense_Mutation_p.R15W|RAMP1_ENST00000404910.2_Missense_Mutation_p.R15W|RAMP1_ENST00000409726.1_Missense_Mutation_p.R15W NM_005855.2 NP_005846.1 O60894 RAMP1_HUMAN receptor (G protein-coupled) activity modifying protein 1 37 intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane protein transporter activity kidney(1)|large_intestine(1)|lung(2) 4 Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288) Pramlintide(DB01278) TGCCCTCCTCCGGGAGCTCTG 0.627000 58 111 0 0 1 0 0 ITGAE 3682 broad.mit.edu 37 17 3655127 3655127 + Silent SNP G G A rs144011498 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:3655127G>A ENST00000263087.4 - 15 1808 c.1710C>T c.(1708-1710)ccC>ccT p.P570P NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 570 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) TGGTGAACCCGGGGTGCCCAC 0.572000 36 98 0 0 1 0 0 BAAT 570 broad.mit.edu 37 9 104130565 104130565 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:104130565C>T ENST00000259407.2 - 3 614 c.506G>A c.(505-507)gGt>gAt p.G169D BAAT_ENST00000395051.3_Missense_Mutation_p.G169D NM_001127610.1|NM_001701.3 NP_001121082.1|NP_001692.1 Q14032 BAAT_HUMAN bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) 169 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) CCCACCCAAACCACCAAACAA 0.473000 16 40 0 0 1 0 0 TRAV10 28676 broad.mit.edu 37 14 22294209 22294209 + RNA SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:22294209G>A ENST00000390432.2 + 0 349 CCAGCTCAGCGATTCAGCCTC 0.512000 9 63 0 0 1 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947751 57947751 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:57947751G>A ENST00000335397.3 + 3 1151 c.835G>A c.(835-837)Gag>Aag p.E279K NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) GCTTTACACAGAGGTCATCCC 0.468000 52 72 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157504315 157504315 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:157504315G>A ENST00000368189.3 - 8 1862 c.1770C>T c.(1768-1770)ttC>ttT p.F590F FCRL5_ENST00000356953.4_Intron|FCRL5_ENST00000361835.3_Intron|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368190.3_Intron Q96RD9 FCRL5_HUMAN Fc receptor-like 5 0 Ig-like C2-type 6. 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) ATTAGGGGAGGAAACTGGACA 0.483000 10 40 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111134961 111134961 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr13:111134961G>A ENST00000360467.5 + 32 3163 c.2857G>A c.(2857-2859)Gga>Aga p.G953R NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 953 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) TGGATTTTTCGGAATACCCGG 0.542000 62 75 0 0 1 0 0 SOWAHB 345079 broad.mit.edu 37 4 77817420 77817420 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:77817420C>T ENST00000334306.2 - 1 1582 c.1583G>A c.(1582-1584)cGa>cAa p.R528Q NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 528 CTTCCTGGATCGAGGTGGGCG 0.572000 24 54 0 0 1 0 0 DCAF5 8816 broad.mit.edu 37 14 69522176 69522176 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:69522176G>A ENST00000341516.5 - 9 1374 c.1227C>T c.(1225-1227)gtC>gtT p.V409V DCAF5_ENST00000557386.1_Silent_p.V408V|DCAF5_ENST00000554215.1_Silent_p.V327V|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000556847.1_Silent_p.V327V NM_003861.2 NP_003852.1 Q96JK2 DCAF5_HUMAN DDB1 and CUL4 associated factor 5 409 CUL4 RING ubiquitin ligase complex breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 GGTCTTCCTGGACCGACTGGT 0.557000 37 155 0 0 1 0 0 GPR111 222611 broad.mit.edu 37 6 47650309 47650309 + Missense_Mutation SNP G G A rs144129468 by1000genomes TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:47650309G>A ENST00000398742.2 + 5 1859 c.1810G>A c.(1810-1812)Gat>Aat p.D604N GPR111_ENST00000296862.1_Missense_Mutation_p.D672N|GPR111_ENST00000507065.1_Missense_Mutation_p.D604N Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 672 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 CACTGTCATCGATGACAGATC 0.493000 11 71 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247004266 247004266 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:247004266G>A ENST00000366508.1 - 36 6884 c.6748C>T c.(6748-6750)Ccc>Tcc p.P2250S AHCTF1_ENST00000391829.2_Missense_Mutation_p.P2215S|AHCTF1_ENST00000326225.3_Missense_Mutation_p.P2224S|AHCTF1_ENST00000470300.1_5'UTR Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 2215 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) ATTTCTATGGGAGGAGGTGAC 0.403000 21 40 0 0 1 0 0 AKR1D1 6718 broad.mit.edu 37 7 137792215 137792215 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:137792215G>A ENST00000242375.3 + 7 786 c.744G>A c.(742-744)ggG>ggA p.G248G AKR1D1_ENST00000411726.2_Silent_p.G207G|AKR1D1_ENST00000432161.1_Silent_p.G248G|AKR1D1_ENST00000468877.2_3'UTR NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 248 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 ACTCATTGGGGAAAAGGTACA 0.363000 88 113 0 0 1 0 0 BCL2L11 10018 broad.mit.edu 37 2 111921785 111921785 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:111921785C>T ENST00000393256.3 + 4 847 c.574C>T c.(574-576)Cgc>Tgc p.R192C BCL2L11_ENST00000308659.8_Missense_Mutation_p.R132C 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) 192 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 p.R192S(1) endometrium(4)|large_intestine(3)|lung(2)|prostate(2) 11 TTACATTGTCCGCCTGGTGTG 0.463000 36 74 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61623020 61623020 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:61623020C>T ENST00000583023.1 + 14 2753 c.2742C>T c.(2740-2742)tcC>tcT p.S914S KCNH6_ENST00000314672.5_Silent_p.S878S|KCNH6_ENST00000581784.1_Silent_p.S825S|KCNH6_ENST00000456941.2_Silent_p.S825S NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 914 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) ACAGGAACTCCTCCCCCAGGA 0.592000 10 105 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70948979 70948979 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:70948979C>T ENST00000357250.6 - 33 2248 c.2090G>A c.(2089-2091)gGa>gAa p.G697E COL9A1_ENST00000370499.4_Missense_Mutation_p.G454E|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000320755.7_Missense_Mutation_p.G454E|COL9A1_ENST00000489611.1_5'UTR NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 697 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 GCCAGGTAATCCTATATCTCC 0.259000 17 115 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1093298 1093298 + Missense_Mutation SNP C C T rs147438840 by1000genomes TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:1093298C>T ENST00000441003.2 + 30 5144 c.5117C>T c.(5116-5118)aCg>aTg p.T1706M MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1673M NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1698 Approximate repeats. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) accaccactacggtgacccca 0.637000 5 12 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123965057 123965057 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:123965057C>T ENST00000314393.4 + 3 2142 c.1307C>T c.(1306-1308)cCc>cTc p.P436L NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 436 Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) GTGGCCAACCCCCCGCTCACA 0.612000 32 34 0 0 1 0 0 AHRR 57491 broad.mit.edu 37 5 434558 434558 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:434558C>T ENST00000316418.5 + 12 1813 c.1769C>T c.(1768-1770)aCc>aTc p.T590I AHRR_ENST00000506456.1_Missense_Mutation_p.T428I|AHRR_ENST00000512529.1_Missense_Mutation_p.T418I|AHRR_ENST00000505113.1_Missense_Mutation_p.T572I NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 572 Needed for transcriptional repression (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) ACCTTCCCTACCAGGATGCAC 0.652000 10 49 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 121929400 121929400 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:121929400G>A ENST00000265922.3 - 8 2709 c.2248C>T c.(2248-2250)Ctc>Ttc p.L750F DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 750 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 GACTGTTTGAGGATCTCCGTG 0.502000 95 131 0 0 1 0 0 R3HDM1 23518 broad.mit.edu 37 2 136479565 136479565 + Missense_Mutation SNP C C A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:136479565C>A ENST00000264160.4 + 24 3218 c.2848C>A c.(2848-2850)Cca>Aca p.P950T R3HDM1_ENST00000329971.3_Missense_Mutation_p.P821T|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P951T|R3HDM1_ENST00000409478.1_Missense_Mutation_p.P822T|R3HDM1_ENST00000410054.1_Missense_Mutation_p.P895T NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 950 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) CGGACACATTCCAAACCAACA 0.458000 25 39 4.22769e-11 4.28641e-11 1 1 0 TNRC18 84629 broad.mit.edu 37 7 5391507 5391507 + Nonsense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:5391507G>A ENST00000399537.4 - 17 5761 c.5413C>T c.(5413-5415)Cga>Tga p.R1805* TNRC18_ENST00000430969.1_Nonsense_Mutation_p.R1805* O15417 TNC18_HUMAN trinucleotide repeat containing 18 1805 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) TCGGCCTCTCGAAGCAGCAGA 0.597000 6 42 0 0 1 0 0 ZNF502 91392 broad.mit.edu 37 3 44763673 44763673 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:44763673G>A ENST00000296091.4 + 4 1620 c.1364G>A c.(1363-1365)aGa>aAa p.R455K ZNF502_ENST00000449836.1_Missense_Mutation_p.R455K|ZNF502_ENST00000436624.2_Missense_Mutation_p.R455K NM_001134440.1|NM_033210.4 NP_001127912.1|NP_149987.2 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 455 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) CAGCATATGAGAATTCATACT 0.418000 12 61 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12736670 12736670 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chrX:12736670C>T ENST00000380682.1 + 16 4231 c.3725C>T c.(3724-3726)tCc>tTc p.S1242F NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 1242 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 CTCTGCCCCTCCCTGGGGAAG 0.607000 43 56 0 0 1 0 0 HIRA 7290 broad.mit.edu 37 22 19393353 19393353 + Missense_Mutation SNP A A T rs34074246 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:19393353A>T ENST00000263208.5 - 5 609 c.353T>A c.(352-354)gTg>gAg p.V118E HIRA_ENST00000340170.4_Missense_Mutation_p.V118E|HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000546308.1_Missense_Mutation_p.V74E|HIRA_ENST00000541063.1_Missense_Mutation_p.V74E NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 118 chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) CCACTGCTCCACATTGGCAAG 0.602000 43 83 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138447651 138447651 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:138447651G>A ENST00000310018.2 - 6 693 c.411C>T c.(409-411)ttC>ttT p.F137F ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000353492.4_Silent_p.F137F|ATP6V0A4_ENST00000393054.1_Silent_p.F137F NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 137 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 CCACCTCAAAGAAGTCTTGGG 0.468000 173 183 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70639578 70639578 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:70639578G>A ENST00000322773.4 + 6 754 c.652G>A c.(652-654)Ggc>Agc p.G218S NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 218 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 AGCTTCAGATGGCAAGCCTGT 0.348000 25 113 0 0 1 0 0 SLC13A4 26266 broad.mit.edu 37 7 135378950 135378950 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:135378950C>T ENST00000354042.4 - 10 1742 c.1053G>A c.(1051-1053)aaG>aaA p.K351K NM_012450.2 NP_036582.2 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 4 351 integral to plasma membrane sodium:sulfate symporter activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 CCCTTTTGGTCTTCTTCTTCT 0.408000 8 188 0 0 1 0 0 INPP4B 8821 broad.mit.edu 37 4 143033749 143033749 + Missense_Mutation SNP A A G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:143033749A>G ENST00000513000.1 - 23 2655 c.2222T>C c.(2221-2223)gTg>gCg p.V741A INPP4B_ENST00000262992.4_Missense_Mutation_p.V741A|INPP4B_ENST00000508116.1_Missense_Mutation_p.V741A|INPP4B_ENST00000308502.4_Missense_Mutation_p.V741A|INPP4B_ENST00000509777.1_Missense_Mutation_p.V741A NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 741 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) TACTGGATACACATGAAGCAA 0.403000 25 91 0 0 1 0 0 MLF2 8079 broad.mit.edu 37 12 6859119 6859119 + Missense_Mutation SNP A A T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:6859119A>T ENST00000203630.5 - 7 1098 c.454T>A c.(454-456)Tcc>Acc p.S152T MLF2_ENST00000435120.1_Missense_Mutation_p.S152T|MLF2_ENST00000539187.1_Missense_Mutation_p.S152T|MLF2_ENST00000542154.1_Missense_Mutation_p.S152T Q15773 MLF2_HUMAN myeloid leukemia factor 2 152 defense response cytoplasm|nucleus protein binding kidney(2)|large_intestine(3)|lung(4) 9 TGCCCAATGGACATCTGCTCC 0.607000 38 74 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13776635 13776635 + Nonsense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:13776635G>A ENST00000265104.4 - 55 9390 c.9286C>T c.(9286-9288)Cga>Tga p.R3096* NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3096 AAA 4 (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) GCTCTGTTTCGAAATTTCTCC 0.483000 Kartagener syndrome 26 108 0 0 1 0 0 RHAG 6005 broad.mit.edu 37 6 49574607 49574607 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:49574607C>T ENST00000371175.4 - 9 1192 c.1166G>A c.(1165-1167)gGa>gAa p.G389E RHAG_ENST00000229810.7_Silent_p.G348G NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh-associated glycoprotein 389 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) AGATGGCTGTCCCCAGAGAGG 0.403000 9 56 0 0 1 0 0 KLK3 354 broad.mit.edu 37 19 51361469 51361469 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:51361469G>A ENST00000360617.3 + 3 391 c.391G>A c.(391-393)Gag>Aag p.E131K KLK3_ENST00000595952.1_Missense_Mutation_p.E88K|KLK3_ENST00000326003.2_Missense_Mutation_p.E131K|KLK3_ENST00000597483.1_Missense_Mutation_p.E88K|KLK3_ENST00000593997.1_Missense_Mutation_p.E131K P07288 KLK3_HUMAN kallikrein-related peptidase 3 131 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) AGAGCCTGCCGAGCTCACGGA 0.612000 31 70 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18301532 18301532 + Nonsense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:18301532G>A ENST00000441493.2 - 26 4247 c.3895C>T c.(3895-3897)Caa>Taa p.Q1299* NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1299 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) CTTTGGCTTTGGACAGGGAGA 0.632000 21 162 0 0 1 0 0 KIF17 57576 broad.mit.edu 37 1 21011497 21011497 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:21011497G>A ENST00000247986.2 - 10 2346 c.2036C>T c.(2035-2037)tCg>tTg p.S679L KIF17_ENST00000400463.3_Missense_Mutation_p.S679L|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Missense_Mutation_p.S579L Q9P2E2 KIF17_HUMAN kinesin family member 17 679 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) GGCCACTTCCGAGGCCAGATC 0.677000 6 22 0 0 1 0 0 CCNDBP1 23582 broad.mit.edu 37 15 43484963 43484963 + Missense_Mutation SNP A A T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr15:43484963A>T ENST00000300213.4 + 9 1125 c.883A>T c.(883-885)Ata>Tta p.I295L EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_Missense_Mutation_p.I134L NM_012142.4 NP_036274.3 O95273 CCDB1_HUMAN cyclin D-type binding-protein 1 295 Interaction with RPLP0.|Interaction with TCF3. 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) GGCTCTGAGCATATATCCACC 0.398000 36 108 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111134963 111134963 + Silent SNP A A G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr13:111134963A>G ENST00000360467.5 + 32 3165 c.2859A>G c.(2857-2859)ggA>ggG p.G953G NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 953 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GATTTTTCGGAATACCCGGTC 0.542000 60 75 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558729 129558729 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:129558729G>A ENST00000422113.2 - 9 3317 c.2991C>T c.(2989-2991)ttC>ttT p.F997F TMEM132D_ENST00000389441.4_Silent_p.F535F NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 997 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) TACTTTCCTCGAAATCCATGC 0.468000 46 130 0 0 1 0 0 RHBDL3 162494 broad.mit.edu 37 17 30615924 30615924 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:30615924C>T ENST00000269051.4 + 4 422 c.408C>T c.(406-408)atC>atT p.I136I RHBDL3_ENST00000536287.1_Silent_p.I38I|RHBDL3_ENST00000538145.1_Silent_p.I128I NM_138328.2 NP_612201.1 P58872 RHBL3_HUMAN rhomboid, veinlet-like 3 (Drosophila) 136 proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Breast(31;0.116)|Ovarian(249;0.182) AGCGACTTATCCGCCATGTGG 0.602000 38 57 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70891749 70891749 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:70891749G>A ENST00000393567.2 - 72 12304 c.12154C>T c.(12154-12156)Cat>Tat p.H4052Y NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4052 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ATGCCCAGATGGAAAGGTGTG 0.468000 19 45 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18490237 18490237 + Missense_Mutation SNP G G A rs149616744 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:18490237G>A ENST00000440756.2 - 11 2404 c.2302C>T c.(2302-2304)Cgt>Tgt p.R768C PSD3_ENST00000428502.2_Missense_Mutation_p.R95C|PSD3_ENST00000523619.1_Missense_Mutation_p.R701C|PSD3_ENST00000286485.8_Missense_Mutation_p.R232C|PSD3_ENST00000327040.8_Missense_Mutation_p.R766C Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 767 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) CTTCCAATACGACTGATGGTC 0.398000 31 58 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110246110 110246110 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:110246110C>T ENST00000418703.2 - 2 644 c.550G>A c.(550-552)Gag>Aag p.E184K TRPV4_ENST00000544971.1_Missense_Mutation_p.E184K|TRPV4_ENST00000541794.1_Missense_Mutation_p.E184K|TRPV4_ENST00000537083.1_Missense_Mutation_p.E184K|TRPV4_ENST00000346520.2_Missense_Mutation_p.E184K|TRPV4_ENST00000536838.1_Missense_Mutation_p.E150K|TRPV4_ENST00000261740.2_Missense_Mutation_p.E184K|TRPV4_ENST00000392719.2_Missense_Mutation_p.E184K NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 184 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 CCTCGAAACTCCTCATCAGTT 0.612000 25 46 0 0 1 0 0 DPPA3P2 400206 broad.mit.edu 37 14 36841194 36841194 + RNA SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:36841194G>A ENST00000557188.1 + 0 825 CAATAATTTTGATAATGAGTT 0.289000 3 25 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136699632 136699632 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:136699632C>T ENST00000445907.2 + 3 548 c.20C>T c.(19-21)tCc>tTc p.S7F AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.S7F|CHRM2_ENST00000402486.3_Missense_Mutation_p.S7F|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.S7F|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.S7F|CHRM2_ENST00000401861.1_Missense_Mutation_p.S7F NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 7 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) TCAACAAACTCCTCTAACAAT 0.368000 21 106 0 0 1 0 0 ZNF300 91975 broad.mit.edu 37 5 150276384 150276384 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:150276384C>T ENST00000446148.2 - 7 892 c.465G>A c.(463-465)gaG>gaA p.E155E ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Silent_p.E139E|ZNF300_ENST00000394226.2_Silent_p.E139E|ZNF300_ENST00000418587.2_Silent_p.E103E NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGTCTTGATTCTCTAGAAATC 0.408000 23 124 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106927045 106927045 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr10:106927045C>T ENST00000369701.3 + 13 2066 c.1839C>T c.(1837-1839)ttC>ttT p.F613F NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 613 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) ATGTCTGGTTCCTAGACTGGG 0.448000 23 36 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76753956 76753956 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr18:76753956G>A ENST00000536229.3 + 1 2275 c.1566G>A c.(1564-1566)tcG>tcA p.S522S SALL3_ENST00000537592.2_Silent_p.S655S|SALL3_ENST00000575389.2_Silent_p.S655S Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 655 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TGCTAGACTCGATGCAAACGT 0.642000 6 47 0 0 1 0 0 CCDC181 57821 broad.mit.edu 37 1 169391536 169391536 + Missense_Mutation SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:169391536C>T ENST00000545005.1 - 4 640 c.133G>A c.(133-135)Gaa>Aaa p.E45K CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.E45K|CCDC181_ENST00000367806.3_Missense_Mutation_p.E45K coiled-coil domain containing 181 ATATTCTCTTCCTTCTCACAA 0.353000 11 57 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1559139 1559139 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr20:1559139G>A ENST00000381605.4 - 2 342 c.278C>T c.(277-279)tCa>tTa p.S93L SIRPB1_ENST00000262929.5_Missense_Mutation_p.S92L|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.S93L|SIRPB1_ENST00000381603.3_Missense_Mutation_p.S93L NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 93 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 TGTGAGTTCTGAAACAGTTGT 0.507000 35 165 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158325852 158325852 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:158325852G>A ENST00000444681.2 + 3 857 c.564G>A c.(562-564)gtG>gtA p.V188V CD1E_ENST00000368160.3_Silent_p.V287V|CD1E_ENST00000434258.1_Silent_p.V285V|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368156.1_Silent_p.V197V|CD1E_ENST00000368166.3_Silent_p.V98V|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368165.3_Silent_p.V197V|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368167.3_Silent_p.V287V|CD1E_ENST00000452291.2_Silent_p.V98V NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 287 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) CCTGTCGGGTGAAACACAGCA 0.562000 12 104 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144943440 144943440 + Missense_Mutation SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:144943440G>A ENST00000525985.1 - 2 4053 c.3982C>T c.(3982-3984)Cca>Tca p.P1328S P58107 EPIPL_HUMAN epiplakin 1 1328 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) TAGGGATCTGGGTACCCGGCC 0.672000 36 111 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89981652 89981652 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:89981652C>T ENST00000405460.2 + 29 6426 c.6330C>T c.(6328-6330)atC>atT p.I2110I NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2110 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) AACTAATTATCATTGCCAATG 0.413000 7 36 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139915144 139915144 + Splice_Site SNP A A G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:139915144A>G ENST00000265662.5 - 9 1413 c.e9+1 ABCA2_ENST00000492260.1_Splice_Site|ABCA2_ENST00000341511.6_Splice_Site|ABCA2_ENST00000371605.3_Splice_Site Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CCGCCCACCTACCGGTTGTTG 0.667000 15 35 0 0 1 0 0 STK40 83931 broad.mit.edu 37 1 36821017 36821017 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:36821017G>A ENST00000359297.2 - 4 367 c.360C>T c.(358-360)atC>atT p.I120I STK40_ENST00000373132.3_Silent_p.I120I|STK40_ENST00000373130.3_Silent_p.I125I|STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373129.3_Silent_p.I120I Q8N2I9 STK40_HUMAN serine/threonine kinase 40 120 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1) 13 Myeloproliferative disorder(586;0.0393) TGTCCTCAACGATTTCACAGG 0.592000 115 255 0 0 1 0 0 ZCCHC13 389874 broad.mit.edu 37 X 73524122 73524122 + Silent SNP C C T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chrX:73524122C>T ENST00000339534.2 + 1 98 c.21C>T c.(19-21)ttC>ttT p.F7F NM_203303.2 NP_976048.1 Q8WW36 ZCH13_HUMAN zinc finger, CCHC domain containing 13 7 nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 8 AGGATTTCTTCGCGTGTGGAC 0.627000 15 6 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37346257 37346257 + Silent SNP G G A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:37346257G>A ENST00000373091.3 - 3 544 c.528C>T c.(526-528)acC>acT p.T176T GRIK3_ENST00000373093.4_Silent_p.T176T NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 176 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CATAGACCACGGTGGCTGACC 0.607000 148 370 0 0 1 0 0 RP11-431K24.1 0 broad.mit.edu 37 1 8114345 8114346 + RNA INS - - T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:8114345_8114346insT ENST00000445300.1 + 0 815 ACTAGTCtttcttttttttttt 0.386 4 3 --- --- --- --- ESPNP 284729 broad.mit.edu 37 1 17038327 17038327 + RNA DEL A A - rs59855586 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:17038327delA ENST00000492551.1 - 0 194 NR_026567.1 tgaggcacagagagctaagat 0.507 5 5 --- --- --- --- RP5-930J4.2 0 broad.mit.edu 37 1 21059405 21059405 + RNA DEL A A - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:21059405delA ENST00000436642.1 + 0 33 TGACATCTGCAGGAAACCCCC 0.662 2 4 --- --- --- --- RP11-417J8.1 0 broad.mit.edu 37 1 142553422 142553423 + RNA INS - - A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:142553422_142553423insA ENST00000445662.1 + 0 130_131 tattaagatggaaaaaaataag 0.361 3 6 --- --- --- --- RP11-417J8.2 0 broad.mit.edu 37 1 142583243 142583243 + RNA DEL C C - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:142583243delC ENST00000415979.2 - 0 167 aaatctaaaacaagagagcaa 0.294 2 4 --- --- --- --- LOC101927209 101927209 broad.mit.edu 37 1 142657355 142657356 + RNA INS - - T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:142657355_142657356insT ENST00000369381.2 - 0 2507 RP11-417J8.3_ENST00000426408.1_lincRNA TGCCTGTTCCCTGGCCCCCTCC 0.589 4 5 --- --- --- --- LOC101927209 101927209 broad.mit.edu 37 1 142680819 142680820 + RNA INS - - A rs150990366 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:142680819_142680820insA ENST00000369381.2 - 0 2507 GTGAAGCTAtgaaatgccttca 0.396 3 3 --- --- --- --- RP11-423O2.5 0 broad.mit.edu 37 1 142809179 142809180 + RNA INS - - T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:142809179_142809180insT ENST00000423385.1 - 0 88 gatgatgagcattttttcatgt 0.366 4 6 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143163583 143163583 + RNA DEL G G - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:143163583delG ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA|RP11-782C8.4_ENST00000424474.2_lincRNA atttcagaaagccagttttca 0.413 2 4 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145109975 145109976 + RNA INS - - C rs67257307 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:145109975_145109976insC ENST00000453618.1 + 0 673 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CAGGAACTTTGCTAAAGATCTA 0.386 8 7 --- --- --- --- LOC101928650 101928650 broad.mit.edu 37 1 170463673 170463673 + RNA DEL C C - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:170463673delC ENST00000416416.1 - 0 113 RP11-576I22.2_ENST00000446102.1_RNA|RP11-576I22.2_ENST00000456083.1_RNA TGGCTCCCATCCCACAGCCTC 0.463 2 4 --- --- --- --- RGS16 6004 broad.mit.edu 37 1 182569449 182569451 + In_Frame_Del DEL AGG AGG - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr1:182569449_182569451delAGG ENST00000367558.5 - 5 733_735 c.585_587delCCT c.(583-588)agg>ag p.SL195del NM_002928.3 NP_002919.3 O15492 RGS16_HUMAN regulator of G-protein signaling 16 195 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1) 11 GGGCTCGTCCAGGCTGCAGCTGG 0.640 9 217 --- --- --- --- AC068490.2 0 broad.mit.edu 37 2 22633010 22633011 + RNA INS - - G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:22633010_22633011insG ENST00000450551.1 - 0 70 AC096570.2_ENST00000419013.1_lincRNA AAGAAAAAAAAAATGCTTCGAG 0.302 2 4 --- --- --- --- LOC101929418 101929418 broad.mit.edu 37 2 30321643 30321643 + RNA DEL G G - rs11315651 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:30321643delG ENST00000453606.1 - 0 109 AGCAGGATGTGGACCATAATA 0.438 4 2 --- --- --- --- LOC728730 728730 broad.mit.edu 37 2 39723158 39723161 + RNA DEL TTCT TTCT - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:39723158_39723161delTTCT ENST00000449569.1 + 0 282 AC007246.3_ENST00000422128.1_RNA|AC007246.3_ENST00000426083.1_RNA|AC007246.3_ENST00000446698.1_RNA|AC007246.3_ENST00000443038.1_RNA NR_037875.1 ctttcttcccttctttctttcttt 0.466 2 4 --- --- --- --- LOC101927043 101927043 broad.mit.edu 37 2 47557000 47557000 + RNA DEL A A - rs79926354 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:47557000delA ENST00000419035.1 - 0 66 p.0?(2)|p.?(1) AGCAAATGCTAAAAAAAATAG 0.498 3 4 --- --- --- --- AC079807.4 0 broad.mit.edu 37 2 48293911 48293912 + RNA INS - - G rs34809857 by1000genomes TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:48293911_48293912insG ENST00000447571.1 - 0 240 p.0?(2) ctgctccccccccccaaactta 0.436 4 2 --- --- --- --- LOC730100 730100 broad.mit.edu 37 2 51970390 51970393 + RNA DEL AGAG AGAG - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:51970390_51970393delAGAG ENST00000440698.1 + 0 753 ACACAGGCACagagagagagagag 0.353 2 4 --- --- --- --- LINC01185 400957 broad.mit.edu 37 2 61103580 61103580 + RNA DEL A A - rs75940647 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:61103580delA ENST00000452343.1 - 0 83 NR_033980.1 cgtctcttctaaaaaaaaaaa 0.532 2 4 --- --- --- --- LINC01087 101927994 broad.mit.edu 37 2 132405729 132405730 + RNA INS - - G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:132405729_132405730insG ENST00000431979.1 + 0 2154 TTCCCGCACACGTGGTGGCAAA 0.535 3 5 --- --- --- --- LOC101928273 101928273 broad.mit.edu 37 2 138649472 138649472 + RNA DEL A A - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:138649472delA ENST00000458351.1 - 0 171 ctgtaatcccagcactttggg 0.493 2 4 --- --- --- --- AC092684.1 0 broad.mit.edu 37 2 165096054 165096054 + RNA DEL T T - rs35683644 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr2:165096054delT ENST00000429636.1 - 0 196 gggttttttatttttttttcc 0.343 2 4 --- --- --- --- SUCLG2-AS1 101927111 broad.mit.edu 37 3 67923879 67923879 + RNA DEL T T - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:67923879delT ENST00000482677.1 + 0 1553 tagaaataacttagttatttc 0.308 2 4 --- --- --- --- LINC00971 440970 broad.mit.edu 37 3 84740332 84740332 + RNA DEL G G - rs60613380 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:84740332delG ENST00000484892.1 - 0 2354 NR_033860.1 ctccatctcagaaaaaaaaaa 0.418 2 4 --- --- --- --- LINC00971 440970 broad.mit.edu 37 3 84910988 84910988 + RNA DEL G G - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:84910988delG ENST00000484892.1 - 0 1111 NR_033860.1 TAAAGATAATGGCACATATCT 0.368 2 4 --- --- --- --- LOC101927056 101927056 broad.mit.edu 37 3 125603729 125603729 + RNA DEL A A - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:125603729delA ENST00000468859.1 - 0 1456 ccttggtgctaaaaaaaaatt 0.408 2 4 --- --- --- --- FAM86JP 100125556 broad.mit.edu 37 3 125639090 125639090 + RNA DEL C C - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:125639090delC ENST00000485843.1 + 0 251 NR_024251.1 ctcctgttttcccaccgtccc 0.637 2 4 --- --- --- --- SDHAP1 255812 broad.mit.edu 37 3 195690462 195690463 + RNA INS - - G TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr3:195690462_195690463insG ENST00000427841.1 - 0 2203 NR_003264.2 catgcgcaacaggggactgtaa 0.366 3 3 --- --- --- --- RP11-548L20.1 0 broad.mit.edu 37 4 34220059 34220060 + RNA INS - - A TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:34220059_34220060insA ENST00000514877.1 - 0 265 aaatcagtaagaaaaaaaaaag 0.337 4 4 --- --- --- --- RP11-25H12.1 0 broad.mit.edu 37 4 66888943 66888943 + RNA DEL A A - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:66888943delA ENST00000508572.1 + 0 463 aatggccattaaaaaaaaaaa 0.353 2 4 --- --- --- --- LOC256880 256880 broad.mit.edu 37 4 100950974 100950974 + RNA DEL G G - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:100950974delG ENST00000507494.1 + 0 567 RP11-15B17.1_ENST00000501976.2_RNA|RP11-15B17.1_ENST00000515026.1_RNA gttcatgataggcagttcagg 0.408 2 4 --- --- --- --- LOC101929468 101929468 broad.mit.edu 37 4 105416094 105416095 + RNA DEL CT CT - rs62329623 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:105416094_105416095delCT ENST00000500179.1 + 0 96 tctctctcccctctctctctct 0.634 2 4 --- --- --- --- SPATA5 166378 broad.mit.edu 37 4 123854603 123854625 + Frame_Shift_Del DEL TATGGAAATTAATGAAGAAGAAC TATGGAAATTAATGAAGAAGAAC - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:123854603_123854625delTATGGAAATTAATGAAGAAGAAC ENST00000274008.3 + 4 525_547 c.456_478delTATGGAAATTAATGAAGAAGAAC c.(454-480)gatgfs p.DMEINEEEL152fs SPATA5_ENST00000422835.2_3'UTR NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 152 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity p.E154D(1) endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 GTGACAAAGATATGGAAATTAATGAAGAAGAACTGACTGGTTG 0.318 10 56 --- --- --- --- LINC01256 104355285 broad.mit.edu 37 4 133570941 133570942 + RNA DEL TG TG - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:133570941_133570942delTG ENST00000513270.1 + 0 323 tgtgcatgtctgtgtgtgtgtg 0.332 2 4 --- --- --- --- RP11-285C1.2 0 broad.mit.edu 37 4 153959513 153959513 + RNA DEL A A - rs113513345 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:153959513delA ENST00000515232.1 + 0 218 agactccgtcaaaaaaaaaaa 0.408 2 4 --- --- --- --- LOC728339 728339 broad.mit.edu 37 4 190827125 190827126 + RNA INS - - TA rs148029614 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr4:190827125_190827126insTA ENST00000511785.1 - 0 231 aaacatataagtatattttttt 0.213 2 4 --- --- --- --- GUSBP1 728411 broad.mit.edu 37 5 21534424 21534425 + RNA INS - - AG rs139770873 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:21534424_21534425insAG ENST00000607545.1 + 0 314 NR_027026.1 ACCCAACGCGAAGAGACTCCTT 0.485 3 3 --- --- --- --- GUSBP1 728411 broad.mit.edu 37 5 21549600 21549600 + RNA DEL T T - rs35527164 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr5:21549600delT ENST00000607545.1 + 0 314 NR_027026.1 ATTTAAAAGATTTTTAAGATA 0.274 5 1 --- --- --- --- XXbac-BPG299F13.17 0 broad.mit.edu 37 6 31164361 31164364 + RNA DEL AAAC AAAC - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:31164361_31164364delAAAC ENST00000606367.1 - 0 1450_1453 ccaccgggagaaacaaacaactcc 0.510 7 2 --- --- --- --- LOC101927640 101927640 broad.mit.edu 37 6 112594572 112594573 + RNA DEL TG TG - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr6:112594572_112594573delTG ENST00000587816.1 + 0 111 RP11-506B6.6_ENST00000433684.2_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000590584.1_RNA|RP11-506B6.6_ENST00000590293.1_RNA|RP11-506B6.6_ENST00000585450.1_RNA|RP11-506B6.6_ENST00000588837.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000590804.1_RNA tgtgtgtgtctgtgtgtgtgtg 0.569 2 4 --- --- --- --- AC093627.12 0 broad.mit.edu 37 7 186863 186864 + RNA INS - - GC rs58426881 by1000genomes TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:186863_186864insGC ENST00000467050.1 - 0 233 GCAGGTGCCAGGCCTGAGCTGG 0.644 5 5 --- --- --- --- COL26A1 136227 broad.mit.edu 37 7 101186468 101186469 + RNA INS - - C rs28674048 by1000genomes TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:101186468_101186469insC ENST00000313669.7 + 0 796 COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 tttttttttttctgagacggtc 0.535 OREG0018224 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- KCP 375616 broad.mit.edu 37 7 128523822 128523822 + RNA DEL C C - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:128523822delC ENST00000476647.2 - 0 3287 Q6ZWJ8 KCP_HUMAN kielin/chordin-like protein extracellular region central_nervous_system(1)|endometrium(3) 4 CCCTGCAGCGCCACCTGCTGG 0.617 OREG0009869|OREG0018301 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model 2 4 --- --- --- --- RBM33 155435 broad.mit.edu 37 7 155531073 155531074 + Frame_Shift_Del DEL CA CA - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:155531073_155531074delCA ENST00000401878.3 + 11 1911_1912 c.1713_1714delCA c.(1711-1716)cccafs p.PT571fs NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 571 Pro-rich. nucleotide binding|RNA binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) CGTTTCTGCCCACACACACACA 0.530 7 176 --- --- --- --- AC006372.6 0 broad.mit.edu 37 7 157309323 157309323 + RNA DEL C C - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr7:157309323delC ENST00000433660.1 + 0 246 GCCAACCCCACCTGGCTTGGG 0.562 2 4 --- --- --- --- RP11-13N12.1 0 broad.mit.edu 37 8 16565426 16565427 + RNA INS - - AT TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:16565426_16565427insAT ENST00000521411.2 - 0 373 tatatacgtgcatatacacaca 0.317 2 4 --- --- --- --- KB-1930G5.4 0 broad.mit.edu 37 8 102453311 102453312 + RNA DEL TC TC - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:102453311_102453312delTC ENST00000519793.1 - 0 242 tccttagccatctctctctctc 0.500 3 4 --- --- --- --- RP11-706C16.8 0 broad.mit.edu 37 8 143873045 143873046 + RNA INS - - ATCC rs58639895 by1000genomes TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr8:143873045_143873046insATCC ENST00000510610.2 + 0 216 ttcattcacttatccatccatc 0.446 4 3 --- --- --- --- LINC01410 103352539 broad.mit.edu 37 9 66460027 66460027 + RNA DEL T T - rs112286776 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:66460027delT ENST00000424345.1 + 0 224 ttgggaaggcttttcacatat 0.343 4 7 --- --- --- --- LINC01410 103352539 broad.mit.edu 37 9 66466327 66466327 + RNA DEL G G - rs58593495 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:66466327delG ENST00000424345.1 + 0 960 agcaggtccaggaatgcactt 0.483 4 8 --- --- --- --- CTSL3P 392360 broad.mit.edu 37 9 90392422 90392424 + RNA DEL AGA AGA - rs150419979 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:90392422_90392424delAGA ENST00000354530.2 + 0 425 NR_027917.1 TTTCTCTAGCAGAAGATTTCCCC 0.517 2 4 --- --- --- --- RP11-535M15.1 0 broad.mit.edu 37 9 99450300 99450301 + RNA INS - - A rs34694487 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:99450300_99450301insA ENST00000423924.1 + 0 269 gactccgtctcaaaaaaaaaaa 0.470 3 4 --- --- --- --- RP11-308N19.1 0 broad.mit.edu 37 9 109344766 109344767 + RNA DEL GT GT - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:109344766_109344767delGT ENST00000435485.1 + 0 558 TATCAGAGGCgtgtgtgtgtgt 0.376 2 4 --- --- --- --- RP11-65J3.3 0 broad.mit.edu 37 9 132195280 132195280 + RNA DEL G G - rs78423522 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:132195280delG ENST00000436510.1 - 0 487 GGCACAGAGAGCCTGGGAACA 0.642 3 4 --- --- --- --- TPRN 286262 broad.mit.edu 37 9 140087025 140087027 + In_Frame_Del DEL TCC TCC - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr9:140087025_140087027delTCC ENST00000409012.4 - 2 1928_1930 c.1842_1844delGGA c.(1840-1845)gaa>ga p.EE620del TPRN_ENST00000321773.2_In_Frame_Del_p.EE559del NM_001128228.2 NP_001121700.2 Q4KMQ1 TPRN_HUMAN taperin 620 Glu-rich. sensory perception of sound stereocilium p.E315delE(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 ctcttcctcttcctcctcctcct 0.596 8 61 --- --- --- --- RP11-57C13.3 0 broad.mit.edu 37 10 89418848 89418848 + RNA DEL C C - rs34944103 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr10:89418848delC ENST00000354527.2 - 0 146 RP11-57C13.6_ENST00000438082.1_lincRNA TGTAACCTGACGATACTGTTG 0.542 3 4 --- --- --- --- CCDC34 91057 broad.mit.edu 37 11 27363050 27363050 + Frame_Shift_Del DEL T T - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr11:27363050delT ENST00000328697.6 - 4 1327 c.654delA c.(652-654)aafs p.K218fs CCDC34_ENST00000529615.1_5'UTR NM_030771.1 NP_110398.1 Q96HJ3 CCD34_HUMAN coiled-coil domain containing 34 218 endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1) 9 cctttgctgctttttcctcca 0.264 2 4 --- --- --- --- RP4-601P9.2 0 broad.mit.edu 37 12 115174857 115174858 + RNA DEL GT GT - rs147888391 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:115174857_115174858delGT ENST00000551875.1 + 0 541 gtgtgtgtgcgtgtgtgtgtgt 0.564 3 4 --- --- --- --- RP11-148B3.2 0 broad.mit.edu 37 12 116823082 116823082 + RNA DEL T T - rs112282059 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr12:116823082delT ENST00000548506.1 + 0 403 tattattATCTTTTTTTTTTT 0.408 3 4 --- --- --- --- RP11-146E13.4 0 broad.mit.edu 37 14 19812974 19812974 + RNA DEL A A - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:19812974delA ENST00000548109.1 + 0 72 TTGTATGCTGAAAAAGCCTTG 0.428 2 4 --- --- --- --- RP11-597A11.2 0 broad.mit.edu 37 14 20150834 20150835 + RNA INS - - A rs144333397 by1000genomes TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:20150834_20150835insA ENST00000547175.1 + 0 279 ATGTAGAGTTTAAAAAAAAATT 0.262 3 3 --- --- --- --- RP11-589M4.3 0 broad.mit.edu 37 14 53265504 53265504 + RNA DEL T T - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr14:53265504delT ENST00000554548.1 - 0 110 AACCAGGTCCTAATTTCAACG 0.463 2 4 --- --- --- --- SCAND2P 54581 broad.mit.edu 37 15 85184755 85184755 + RNA DEL T T - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr15:85184755delT ENST00000348993.5 + 0 3021 NR_003654.2 ctttattttattttttttgag 0.408 2 4 --- --- --- --- RP11-279O17.3 0 broad.mit.edu 37 16 8383951 8383951 + RNA DEL T T - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:8383951delT ENST00000564185.1 + 0 223 tcctgccaccttgtgaagaaa 0.478 2 4 --- --- --- --- U95743.1 0 broad.mit.edu 37 16 13850448 13850448 + RNA DEL C C - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:13850448delC ENST00000573369.1 - 0 701 CCAGCCTCAGCCCCCCATTGT 0.507 3 4 --- --- --- --- HERC2P4 100289574 broad.mit.edu 37 16 32181394 32181395 + RNA DEL CT CT - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:32181394_32181395delCT ENST00000564730.1 - 0 1021_1022 CTTTTCTGTACTCTTACACAGC 0.272 3 4 --- --- --- --- RP11-410D17.2 0 broad.mit.edu 37 16 58856607 58856607 + RNA DEL A A - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:58856607delA ENST00000500117.1 + 0 679 ctaccctgccaaaaggccccg 0.478 3 3 --- --- --- --- RP11-410D17.2 0 broad.mit.edu 37 16 59073422 59073422 + RNA DEL A A - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr16:59073422delA ENST00000500117.1 + 0 679 TGAAATTGTGAAAAAAAAAAA 0.413 3 4 --- --- --- --- MRPL45 84311 broad.mit.edu 37 17 36462576 36462576 + Frame_Shift_Del DEL G G - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:36462576delG ENST00000312513.5 + 4 600 c.439delG c.(439-441)aafs p.E147fs NM_032351.4 NP_115727.4 Q9BRJ2 RM45_HUMAN mitochondrial ribosomal protein L45 147 intracellular protein transport|translation mitochondrial inner membrane presequence translocase complex|ribosome P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 13 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TATCTTTATTGAAGCTCACCT 0.333 39 120 --- --- --- --- LINC00854 100874261 broad.mit.edu 37 17 41383176 41383177 + RNA INS - - A rs113021295 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:41383176_41383177insA ENST00000433702.2 - 0 14 NR_047479.1 ggagaaaccccatctgtactaa 0.535 4 6 --- --- --- --- AC002117.1 0 broad.mit.edu 37 17 43234364 43234367 + RNA DEL AAAC AAAC - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr17:43234364_43234367delAAAC ENST00000589950.1 - 0 50 AC002117.1_ENST00000452741.1_RNA agactctcaaaaacaaacaaacaa 0.515 2 4 --- --- --- --- LINC00470 56651 broad.mit.edu 37 18 1294223 1294224 + RNA DEL GA GA - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr18:1294223_1294224delGA ENST00000412816.3 - 0 307 pancreas(1) 1 tgtatgtgtggagagagagaga 0.426 2 4 --- --- --- --- TXNDC2 84203 broad.mit.edu 37 18 9886019 9886019 + Frame_Shift_Del DEL T T - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr18:9886019delT ENST00000584255.1 + 2 171 c.104delT c.(103-105)ccfs p.L35fs TXNDC2_ENST00000357775.4_5'UTR|TXNDC2_ENST00000536353.2_5'UTR|TXNDC2_ENST00000306084.6_5'UTR|TXNDC2_ENST00000426718.3_5'UTR Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 0 cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 CTTGAAGCTCTCAAATATCAC 0.438 2 4 --- --- --- --- RP11-403A21.1 0 broad.mit.edu 37 18 21550940 21550941 + RNA INS - - T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr18:21550940_21550941insT ENST00000582300.1 - 0 183 tctccagctaattttttttttc 0.500 2 4 --- --- --- --- WDR7-UA1 0 broad.mit.edu 37 18 54706020 54706021 + RNA INS - - T TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr18:54706020_54706021insT ENST00000592032.1 + 0 527 GATTTCATTCCTTTTTTTTCCT 0.545 2 4 --- --- --- --- TYK2 7297 broad.mit.edu 37 19 10473031 10473031 + Frame_Shift_Del DEL A A - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:10473031delA ENST00000525621.1 - 11 2059 c.1578delT c.(1576-1578)gtfs p.V526fs TYK2_ENST00000529370.1_Frame_Shift_Del_p.V526fs|TYK2_ENST00000524462.1_Frame_Shift_Del_p.V341fs|TYK2_ENST00000264818.6_Frame_Shift_Del_p.V526fs NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 526 SH2; atypical. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) CAAGTTCCCGAACGCTGGGGA 0.652 15 46 --- --- --- --- AC007204.2 0 broad.mit.edu 37 19 20069796 20069797 + RNA DEL AG AG - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr19:20069796_20069797delAG ENST00000592245.1 + 0 417 cagccaaggcagagagagagag 0.470 2 4 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29588147 29588148 + RNA INS - - T rs73621635 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr20:29588147_29588148insT ENST00000432067.1 - 0 152 attttgatgccttttttttctc 0.356 5 3 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29588801 29588801 + RNA DEL A A - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr20:29588801delA ENST00000432067.1 - 0 152 ctttgttgggaaatttttgat 0.343 3 6 --- --- --- --- RP4-614C15.3 0 broad.mit.edu 37 20 57939712 57939712 + RNA DEL C C - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr20:57939712delC ENST00000440889.1 - 0 116 ATGTGCTCTTCCAGCCCTGCA 0.532 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11050605 11050606 + RNA INS - - A rs150695624 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr21:11050605_11050606insA ENST00000470054.1 - 0 487 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCTTTGATAATATATATAAATA 0.292 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11051168 11051168 + RNA DEL T T - rs59377780 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr21:11051168delT ENST00000470054.1 - 0 487 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) agaccttttgtttttatttac 0.393 4 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11092162 11092164 + RNA DEL TTG TTG - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr21:11092162_11092164delTTG ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCTAGGTTTTTTGTTGTTGtttg 0.404 4 4 --- --- --- --- LOC101927973 101927973 broad.mit.edu 37 21 29591541 29591541 + RNA DEL C C - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr21:29591541delC ENST00000453420.1 - 0 414 tgagcatgggcccactgccat 0.448 2 4 --- --- --- --- CLIC6 54102 broad.mit.edu 37 21 36042463 36042492 + In_Frame_Del DEL GCGTAGAAGCGGGGGTCCCGGCGGGGGACA GCGTAGAAGCGGGGGTCCCGGCGGGGGACA - rs62213790 by1000genomes TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr21:36042463_36042492delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA ENST00000360731.3 + 1 776_805 c.776_805delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA c.(775-807)ggc>g p.GVEAGVPAGDS259del CLIC6_ENST00000349499.2_In_Frame_Del_p.GVEAGVPAGDS259del Q96NY7 CLIC6_HUMAN chloride intracellular channel 6 259 13 X 10 AA tandem repeat of G-D-[SNG]- [VIM]-[DEQ]-A-[EAG]-[GDVE]-[PRG]-[LAVP]. chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity p.S269G(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 GCGGGGGACGGCGTAGAAGCGGGGGTCCCGGCGGGGGACAGCGTAGAAGC 0.761 4 4 --- --- --- --- BMS1P20 96610 broad.mit.edu 37 22 22674617 22674617 + RNA DEL T T - rs112532259 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:22674617delT ENST00000426066.1 + 0 1300 NR_027293.1 gcccggctaattttttttttt 0.527 2 4 --- --- --- --- ZDHHC8P1 150244 broad.mit.edu 37 22 23741229 23741229 + RNA DEL T T - rs35996657 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:23741229delT ENST00000255890.4 - 0 1263 CAGTCCTCAGTTTCCCCACTA 0.637 2 4 --- --- --- --- LOC100506679 100506679 broad.mit.edu 37 22 43435162 43435162 + RNA DEL C C - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:43435162delC ENST00000443063.1 + 0 572 ccaacatggtcaaaaccccat 0.532 2 4 --- --- --- --- LOC100506679 100506679 broad.mit.edu 37 22 43435341 43435342 + RNA INS - - A rs60147462 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:43435341_43435342insA ENST00000443063.1 + 0 751_752 tctgtctcgggaaaaaaaaaaa 0.465 2 4 --- --- --- --- LOC284930 284930 broad.mit.edu 37 22 48077422 48077422 + RNA DEL A A - TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chr22:48077422delA ENST00000423737.1 + 0 387 GTGATGGGAGAAGGGCCATAG 0.448 2 4 --- --- --- --- FTX 100302692 broad.mit.edu 37 X 73506653 73506654 + RNA INS - - A rs149262205 TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chrX:73506653_73506654insA ENST00000429124.1 - 0 174 acctgtcccttaaaaaaaaaaa 0.455 5 2 --- --- --- --- RAP2C-AS1 101928578 broad.mit.edu 37 X 131383954 131383955 + RNA INS - - C TCGA-EB-A6QY-01A-12D-A32N-08 TCGA-EB-A6QY-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9 f30d008b-2bde-41f5-b2fe-15a2f52ca84a g.chrX:131383954_131383955insC ENST00000441399.1 + 0 424 RP5-842K24.2_ENST00000421483.1_RNA gccgtctgtcacccctttcttt 0.574 2 4 --- --- --- ---